{"id":15433,"date":"2018-11-14T12:22:04","date_gmt":"2018-11-14T03:22:04","guid":{"rendered":"https:\/\/nipt.hiro-clinic.or.jp\/nipt\/partialdeletions\/"},"modified":"2026-07-09T14:39:23","modified_gmt":"2026-07-09T05:39:23","slug":"partialdeletions","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/nipt\/partialdeletions\/","title":{"rendered":"\u5168\u5e38\u67d3\u8272\u4f53\u5168\u57df\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u75be\u75c5\u662f\u4ec0\u4e48"},"content":{"rendered":"\n<div class=\"nipt-img-04\" style=\"max-width:600px;\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/comic-partialdeletions.jpg\" alt=\"\u77e5\u7684\u969c\u304c\u3044\u3068\u67d3\u8272\u4f53\u691c\u67fb\" class=\"nipt-img-04\">\n<\/div>\n<div class=\"nipt-img-04\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/nipt_partialdeletions-zh-hans.webp\" alt=\"\u77e5\u7684\u969c\u304c\u3044\u3068\u67d3\u8272\u4f53\u691c\u67fb\" class=\"nipt-img-04\">\n<\/div>\n\n<style>\n.nipt-img-04{\n  text-align: center;\n}\n.nipt-img-04 img{\n  width: 100%;\n  margin: 0 0 20px;\n}\n@media screen and (max-width:770px){\n .nipt-img-04 img{\n   width: 100%;\n }\n}\n<\/style>\n\n\n\n<div class=\"pink-special-bordered\">\n<h2 class=\"bordered-ttl\">\u4ec0\u4e48\u662f NIPTy Standard\uff1f<\/h2>\n<p class=\"bordered-highlight\">NIPTy Standard \u53ef\u4ee5\u68c0\u6d4b\u51fa 44 \u6761\u5e38\u67d3\u8272\u4f53\u4e0a\u4efb\u4f55\u90e8\u4f4d\u7684\u7f3a\u5931\u6216\u91cd\u590d\uff0c\u5176\u7ec4\u5408\u65b9\u5f0f\u662f\u65e0\u9650\u7684\u3002<\/p>\n<p>\u8fd9\u9879\u68c0\u67e5\u80fd\u591f\u7cbe\u51c6\u5b9a\u4f4d\u7f3a\u5931\u6216\u91cd\u590d\u7684\u5177\u4f53\u90e8\u4f4d\uff0c\u4ece\u800c\u8bc4\u4f30\u76f8\u5173\u75be\u75c5\u7684\u53ef\u80fd\u6027\u3002\u867d\u7136\u4e0b\u65b9\u5217\u51fa\u4e86\u4e00\u4e9b\u4ee3\u8868\u6027\u7684\u7ec4\u5408\uff0c\u4f46\u5b9e\u9645\u4e0a\u7684\u7f3a\u5931\u548c\u91cd\u590d\u7ec4\u5408\u6570\u91cf\u662f\u65e0\u7a77\u65e0\u5c3d\u7684\u3002\u5728 HIRO \u8bca\u6240\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\uff0c\u6211\u4eec\u80fd\u591f\u51c6\u786e\u9501\u5b9a\u7f3a\u5931\u6216\u91cd\u590d\u7684\u90e8\u4f4d\uff0c\u5e76\u652f\u6301\u5728\u7f8a\u6c34\u68c0\u67e5\u4e2d\u5bf9\u540c\u4e00\u90e8\u4f4d\u8fdb\u884c\u9488\u5bf9\u6027\u7684\u590d\u67e5\u3002<\/p>\n<\/div>\n\n\n\n<!---<div class=\"pink-special-group\">\n<h3 class=\"bordered-ttl\">\u691c\u67fb\u30c7\u30fc\u30bf<\/h3>\n<p>\u30a4\u30eb\u30df\u30ca\u3067\u691c\u67fb\u3092\u53d7\u3051\u305f\u4eba\u306f\u5168\u90e8\u306744984\u4eba\u3001\u305d\u306e\u3046\u30611234\u4eba\u304c\u967d\u6027\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u306e\u4e2d\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3092\u53d7\u3051\u305f\u306e\u306f205\u4eba\u3067\u3001143\u4eba\u304c\u5b9f\u969b\u306b\u967d\u6027\u3068\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7d50\u679c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u306e\u967d\u6027\u7684\u4e2d\u7387\u306f69%\u3067\u3059\u3002<\/p>\n<p>\u7279\u306b\u6ce8\u76ee\u3059\u3079\u304d\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u3067\u3059\u3002<span><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75c5\u6c17<\/span>\u3067\u3059\u304c\u3001\u3053\u306e\u691c\u67fb\u3067\u306f157\u4eba\u304c\u967d\u6027\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3057\u305f\u3002<br>\n\u305d\u306e\u4e2d\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3092\u53d7\u3051\u305f23\u4eba\u306e\u3046\u3061\u3001\u5b9f\u969b\u306b\u967d\u6027\u3068\u78ba\u8a8d\u3055\u308c\u305f\u306e\u306f4\u4eba\u3067\u3057\u305f\u3002\u3053\u306e\u5834\u5408\u3001<span>\u967d\u6027\u7684\u4e2d\u7387\u306f17%<\/span>\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u306e\u3088\u3046\u306a\u5e0c\u5c11\u306a\u75c5\u6c17\u3067\u3082\u3001\u9ad8\u3044\u7cbe\u5ea6\u3067\u7d50\u679c\u3092\u793a\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u307e\u3059\u3002\n<\/p>\n<\/div>--->\n\n\n\n<!---<div class=\"pink-special-group\">\n<table>\n<thead>\n<tr>\n<th>\u9805\u76ee<\/th>\n<th>\u4ef6\u6570<\/th>\n<th>\u967d\u6027\u78ba\u8a8d\u4ef6\u6570<\/th>\n<th>\u967d\u6027\u7684\u4e2d\u7387<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u30a4\u30eb\u30df\u30ca\u3092\u7528\u3044\u305fNIPT\u691c\u67fb\u7dcf\u4ef6\u6570<\/td>\n<td>44,984\u4ef6<\/td>\n<td>1,234\u4ef6<\/td>\n<td>\u30fc<\/td>\n<\/tr>\n<tr>\n<td>NIPT\u967d\u6027\u5f8c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u5b9f\u65bd\u4ef6\u6570<\/td>\n<td>205\u4ef6<\/td>\n<td>143\u4ef6<\/td>\n<td>69%<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u691c\u67fb\u967d\u6027\u4ef6\u6570<\/td>\n<td>157\u4ef6<\/td>\n<td>\u30fc<\/td>\n<td>\u30fc<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u967d\u6027\u5f8c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u967d\u6027\u4ef6\u6570<\/td>\n<td>23\u4ef6<\/td>\n<td>4\u4ef6<\/td>\n<td>17\u4ef6<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>--->\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<!---<div class=\"pink-pointbox\">\n<p><span class=\"pink-pointmoji\">\u5168\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u306f\u3001\u67d3\u8272\u4f53\u306e\u7570\u5e38\u306e\u4e00\u7a2e\u3067\u3059\u3002<\/span><br>\n\u901a\u5e38\u3001\u4eba\u9593\u306f23\u5bfe\u306e\u67d3\u8272\u4f53\u3092\u6301\u3061\u307e\u3059\u304c\u3001<span class=\"pink-pointmoji\">\u3053\u306e\u7570\u5e38\u3067\u306f\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\uff08deletion\uff1a\u5931\u308f\u308c\u3066\u3044\u308b\uff09\u307e\u305f\u306f\u91cd\u8907\uff08duplication\uff1a\u4f59\u5206\u306b\u5b58\u5728\uff09\u3057\u3066\u3044\u307e\u3059\u3002<\/span>\u3053\u308c\u306b\u3088\u308a\u3001<span class=\"pink-pointmoji\">\u907a\u4f1d\u5b50\u69cb\u6210\u306b\u5909\u5316\u304c\u751f\u3058\u3001\u8eab\u4f53\u3084\u77e5\u7684\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/span>\u4f8b\u3048\u3070\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306e\u7570\u5e38\u3001\u767a\u9054\u9045\u5ef6\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5148\u5929\u6027\u5fc3\u81d3\u75c5\u306a\u3069\u3067\u3059\u3002<\/p>\n<\/div>\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u304c\u691c\u67fb\u4f9d\u983c\u3092\u3057\u3066\u3044\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u306e\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3067\u306f<span class=\"pink-pointmoji\">500\u4e07\u5869\u57fa\uff08\u5168\u4f53\u306e0.23%\uff09\u4ee5\u4e0a\u306e\u6b20\u5931\u3001\u91cd\u8907\u304c\u3042\u3063\u305f\u5834\u5408\u306b\u691c\u67fb\u7d50\u679c\u3068\u3057\u3066\u3054\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u3002<\/span><br>\n\u4e0b\u8a18\u306b\u8a73\u3057\u304f\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u5177\u4f53\u7684\u306a\u75c7\u4f8b\u3084\u75be\u60a3\u4f8b\u3092\u77e5\u308a\u3001NIPT\u691c\u67fb\u3092\u53d7\u3051\u308b\u6e96\u5099\u3092\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75be\u60a3\u306f100\u4e07\u5869\u57fa\u304b\u3089500\u4e07\u5869\u57fa\u7a0b\u5ea6\u306e\u6b20\u5931\u3067\u3082\u75c7\u72b6\u3092\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u5f53\u8a72\u907a\u4f1d\u5b50\u3092\u542b\u3093\u3067500\u4e07\u5869\u57fa\u4ee5\u4e0a\u306e\u6b20\u640d\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u75be\u60a3\u7279\u6709\u90e8\u4f4d\u306e\u907a\u4f1d\u5b50\u6b20\u640d\u3092\u8d85\u3048\u308b\u5927\u304d\u306a\u6b20\u5931\u304c\u3042\u3063\u305f\u5834\u5408\u3082\u3001\u8a72\u5f53\u907a\u4f1d\u5b50\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u305f\u3081\u306b\u540c\u69d8\u306e\u75c7\u72b6\u307e\u305f\u306f\u3088\u308a\u91cd\u5ea6\u306e\u75be\u60a3\u3092\u4f34\u3046\u3053\u3068\u304c\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8a72\u5f53\u6b20\u640d\u90e8\u4f4d\u304c\u75be\u60a3\u7279\u7570\u7684\u90e8\u4f4d\u306b\u3075\u304f\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u6b20\u640d\u7bc4\u56f2\u304c\u5927\u304d\u3044\u5834\u5408\u3067\u3082\u540c\u3058\u8a3a\u65ad\u540d\u3092\u3064\u3051\u308b\u306e\u304c\u59a5\u5f53\u3068\u6211\u3005\u306f\u8003\u3048\u3066\u304a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3068\u547c\u3076\u3068\u8aa4\u89e3\u3092\u62db\u304f\u305f\u3081\u3001\u5f53\u30b5\u30a4\u30c8\u3067\u306f\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u75be\u60a3\u300d\u3068\u3057\u3066\u8a18\u8f09\u3055\u305b\u3066\u3044\u305f\u3060\u304d\u307e\u3059\u3002<\/p>\n\n<p>\u6b20\u5931\u3084\u91cd\u8907\u306f\u3001\u305d\u306e\u90e8\u5206\u306b\u5b58\u5728\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u304c\u3069\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u69d8\u3005\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u3042\u308b\u7a2e\u306e\u9175\u7d20\u3092\u4f5c\u308a\u51fa\u3059\u907a\u4f1d\u5b50\u3092\u542b\u3080\u67d3\u8272\u4f53\u304c\u6b20\u640d\u3057\u305f\u5834\u5408\u306f\u9175\u7d20\u306e\u6b20\u640d\u75c7\u304c\u898b\u3089\u308c\u3001\u9aa8\u306e\u5f62\u6210\u3092\u53f8\u308b\u907a\u4f1d\u5b50\u3092\u542b\u3080\u67d3\u8272\u4f53\u304c\u91cd\u8907\u3057\u305f\u5834\u5408\u306f\u9aa8\u5f62\u6210\u306e\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n<p>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u3084\u91cd\u8907\u306f\u5f93\u6765\u3001\u67d3\u8272\u4f53\u3092\u6a2a\u7e1e\u306e\u7e1e\u6a21\u69d8\u306b\u67d3\u3081\u5206\u3051\u3066\u9855\u5fae\u93e1\u4e0b\u3067\u691c\u51fa\u3059\u308b\u65b9\u6cd5\u3067\u884c\u3063\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u3053\u306e\u65b9\u6cd5\u3067\u306f\u6b20\u5931\u3084\u91cd\u8907\u304c\u304a\u3088\u305d1,000\u4e07\u5869\u57fa\uff0810Mb\uff09\u4ee5\u4e0a\u3067\u306a\u3044\u3068\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u8fd1\u5e74\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u3092\u7528\u3044\u308b\u3053\u3068\u3067\u3001\u3055\u3089\u306b\u7cbe\u5ea6\u306e\u9ad8\u3044\u691c\u67fb\u304c\u5b9f\u65bd\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u305d\u306e\u7d50\u679c\u3001\u6b20\u5931\u3084\u91cd\u8907\u306f\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u306e\u307f\u306b\u8d77\u3053\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u67d3\u8272\u4f53\u5168\u4f53\u3067\u8a8d\u3081\u3089\u308c\u3001\u7570\u5e38\u306e\u751f\u3058\u308b\u90e8\u4f4d\u3054\u3068\u306e\u75c7\u72b6\u3082\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3053\u306e\u3088\u3046\u306b\u3057\u3066\u6b20\u5931\u3084\u91cd\u8907\u3068\u3001\u305d\u308c\u306b\u4f34\u3046\u81e8\u5e8a\u7684\u6240\u898b\u3068\u306e\u95a2\u9023\u304c\u5831\u544a\u3055\u308c\u3001\u7570\u5e38\u306e\u8a8d\u3081\u3089\u308c\u305f\u907a\u4f1d\u60c5\u5831\u306f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u5316\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u4e2d\u306b\u306f\u5171\u901a\u3059\u308b\u7570\u5e38\u9818\u57df\u3068\u7279\u5fb4\u7684\u306a\u6240\u898b\u304b\u3089\u8907\u6570\u4f8b\u304c\u5831\u544a\u3055\u308c\u3001\u72ec\u7acb\u3057\u305f\u75be\u60a3\u306b\u4f4d\u7f6e\u4ed8\u3051\u3055\u308c\u3066\u3044\u308b\u3082\u306e\u304b\u3089\u3001\u7a00\u306a\u3001\u3082\u3057\u304f\u306f\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u4f8b\u306e\u306a\u3044\u3082\u306e\u307e\u3067\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u5f93\u3063\u3066\u3001\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u306e\u95a2\u9023\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u3044\u6b20\u5931\u3084\u91cd\u8907\u304c\u3042\u3063\u305f\u5834\u5408\u3001\u75c7\u4f8b\u5831\u544a\u3084\u30b2\u30ce\u30e0\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u691c\u7d22\u3057\u3066\u3001\u51fa\u73fe\u3059\u308b\u75c7\u72b6\u306a\u3069\u3092\u500b\u3005\u306b\u8abf\u3079\u3066\u3044\u304f\u5fc5\u8981\u304c\u3042\u308b\u306e\u3067\u3059\u3002\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u306f\u3001\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u30fb\u6b20\u5931\u304c\u691c\u51fa\u3055\u308c\u305f\u969b\u306b\u306f\u3001\u56fd\u5185\u5916\u306e\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u8907\u6570\u691c\u7d22\u3057\u3001\u3042\u3063\u305f\u5834\u5408\u306b\u306f\u691c\u51fa\u3055\u308c\u305f\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u75be\u60a3\u60c5\u5831\u3092\u62c5\u5f53\u533b\u5e2b\u306b\u8fd4\u5374\u3057\u307e\u3059\u3002<\/p>\n\n<p>\u5168\u3066\u306e\u91cd\u8907\u9818\u57df\u306b\u3042\u308b\u907a\u4f1d\u5b50\u3068\u81e8\u5e8a\u6240\u898b\u3068\u306e\u95a2\u9023\u6027\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u6b20\u5931\u3084\u91cd\u8907\u304c\u8a8d\u3081\u3089\u308c\u3066\u3082\u3001\u4f55\u306e\u75c7\u72b6\u3082\u793a\u3055\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u6b20\u5931\u3084\u91cd\u8907\u3059\u308b\u90e8\u4f4d\u306b\u751f\u547d\u6d3b\u52d5\u3084\u8eab\u4f53\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u3066\u3044\u306a\u3044\u5834\u5408\u3001\u3082\u3057\u304f\u306f\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u3066\u3044\u3066\u3082\u75c5\u7684\u6240\u898b\u3092\u793a\u3055\u306a\u3044\u30bf\u30a4\u30d7\u306e\u907a\u4f1d\u5b50\u306e\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3067\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u4f8b\u3068\u3057\u3066\u30018\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff088p23.2\uff09\u306e\u91cd\u8907\u306f250\u4e07\u5869\u57fa\uff082.5Mb\uff09\u306b\u53ca\u3076\u3082\u306e\u3067\u3042\u308a\u306a\u304c\u3089\u3001\u305d\u3053\u306b\u306f\uff11\u500b\u306e\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50\u3057\u304b\u5c40\u5728\u3057\u306a\u3044\u305f\u3081\u3001\u7570\u5e38\u6240\u898b\u306f\u8a8d\u3081\u305a\u3001\u6b63\u5e38\u5909\u7570\u3068\u7406\u89e3\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u6b20\u640d\u3084\u91cd\u8907\u304c\u8a8d\u3081\u3089\u308c\u305f\u5834\u5408\u3001\u75c5\u7684\u306a\u3082\u306e\u304b\u3069\u3046\u304b\u3092\u9451\u5225\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u4f8b\u306e\u7121\u3044\u3082\u306e\u306b\u3064\u3044\u3066\u306f\u3001\u305d\u306e\u5224\u65ad\u304c\u3067\u304d\u306a\u3044\u3053\u3068\u3001\u307e\u305f\u6b20\u5931\u3084\u91cd\u8907\u3068\u306e\u95a2\u9023\u304c\u4e0d\u660e\u306e\u5834\u5408\uff08variant of unknown significance: VUF = \u610f\u7fa9\u4e0d\u660e\u5909\u7570\uff09\u3082\u3042\u308b\u3053\u3068\u3092\u3054\u7406\u89e3\u3044\u305f\u3060\u304d\u305f\u3044\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n--->\n\n<style>\n  .pink-pointbox {\n    background-color: #fff9fb;\n    border-radius: 6px;\n    border: 3px dashed #fdb0bc;\n    font-size: 100%;\n    padding: 10px;\n    margin-bottom: 1rem;\n}\n  .pink-pointbox p {\n    margin-bottom: 0!important;\n}\n  .pink-pointmoji {\n   color: red;\n}\n\n#info {\n padding-top: 30px;\n}\n<\/style>\n<\/div><\/div>\n\n\n\n<div class=\"pink-special-images\">\n <div class=\"pink-special-imgrow\">\n  <div class=\"special-imgbox\">\n   <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/img-nipt-pd-list-zh.webp\" alt=\"\u68c0\u6d4b\u9879\u76ee\u5217\u8868\">\n  <\/div>\n <\/div>\n<\/div>\n\n<div class=\"pink-special-group\">\n <h3 class=\"bordered-ttl\">\u53ef\u68c0\u6d4b\u65b9\u6848<\/h3>\n <div class=\"special-btnrow\">\n\n  <div class=\"special-btn type-01\">\n   <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/premium\/\">\n    <span class=\"btn-maintext\">NIPTy<br>\u539a\u751f\u52b3\u52a8\u7701\u6307\u5b9a\u7f55\u89c1\u75c5\u65b9\u6848<br>\u300a\u81f3\u5c0a\u7248\u300b<\/span>\n   <\/a>\n  <\/div>\n\n  <div class=\"special-btn type-02\">\n   <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/standard\/\">\n    <span class=\"btn-maintext\">NIPTy<br>\u539a\u751f\u52b3\u52a8\u7701\u6307\u5b9a\u7f55\u89c1\u75c5\u65b9\u6848<\/span>\n   <\/a>\n  <\/div>\n\n  <div class=\"special-btn type-03\">\n   <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/mini\/\">\n    <span class=\"btn-maintext\">NIPTy<br>\u57fa\u7840\u65b9\u6848<\/span>\n   <\/a>\n  <\/div>\n <\/div>\n<\/div>\n\n\n<p><!--\n<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n\n\n<\/p>\n\n\n\n\n\n\n<\/p>\n\n\n\n\n<\/p>\n\n\n<\/p>\n\n\n<div class=\"pink-special-group\">\n <h3 class=\"bordered-ttl\">\u70b9\u51fb\u67e5\u770b\u4ef7\u76ee\u8868<\/h3>\n\n <div class=\"toggle-wrap\">\n <input type=\"checkbox\" id=\"toggle-checkbox\" class=\"toggle-checkbox\" hidden \/>\n <label class=\"special-btn btn-toggle\" for=\"toggle-checkbox\">\n  <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/img-nipt-pd-pricebtn-1.webp\" alt=\"\u67e5\u770b\u4ef7\u683c\">\n <\/label>\n\n <div class=\"toggle-content\">\n\n\n\n<h3 class=\"t-f\">\u667a\u529b\u969c\u788d\u5168\u9762\u7b5b\u67e5<\/h3>\n<div class=\"plan-table p-full\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/premium\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/08\/f-f116-box.webp\" alt=\"f116\"><\/a>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/premium\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/08\/f-g116-box.webp\" alt=\"g116\"><\/a>\n<\/div>\n\n\n\n<h3 class=\"t-s\">\u667a\u529b\u969c\u788d\u6807\u51c6\u7b5b\u67e5<\/h3>\n<div class=\"plan-table p-standard\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/premium\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/s-am-box-1.webp\" alt=\"am\"><\/a>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/standard\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/s-oms-box-1.webp\" alt=\"oms\"><\/a>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/standard\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/s-hms-box-1.webp\" alt=\"hms\"><\/a>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/standard\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/s-om-box-1.webp\" alt=\"om\"><\/a>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/standard\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/s-hm-box-1.webp\" alt=\"hm\"><\/a>\n<\/div>\n\n\n\n<h3 class=\"t-w\">\u667a\u529b\u969c\u788d\u6269\u5c55\u7b5b\u67e5<\/h3>\n<div class=\"plan-table p-wide\">\n<a href=\"\/nipt\/plan\/wide\/#fm\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/w-fm-box-1.webp\" alt=\"fm\"><\/a>\n<a href=\"\/nipt\/plan\/wide\/#gm\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/w-gm-box-1.webp\" alt=\"gm\"><\/a>\n<a href=\"\/nipt\/plan\/wide\/#f\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/w-f-box-1.webp\" alt=\"f\"><\/a>\n<a href=\"\/nipt\/plan\/wide\/#g\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/w-g-box-1.webp\" alt=\"g\"><\/a>\n<\/div>\n\n\n\n<h3 class=\"t-b\">\u57fa\u7840\u65b9\u6848<\/h3>\n<div class=\"plan-table p-basic\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/basic\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/b-b-box-1.webp\" alt=\"b\"><\/a>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/basic\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/b-a-box-1.webp\" alt=\"a\"><\/a>\n<\/div>\n<h3 class=\"t-nin\">\u8ba4\u8bc1\u533b\u7597\u673a\u6784\u4e13\u7528\u65b9\u6848<\/h3>\n<div class=\"plan-table p-basic\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/basic\/\" class=\"nin\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/b-o-box-1.webp\" alt=\"\u8ba4\u8bc1\u533b\u7597\u673a\u6784\"><\/a>\n<h3 class=\"t-d\">\u5510\u6c0f\u7efc\u5408\u5f81\u4e13\u7528\u65b9\u6848<\/h3>\n<div class=\"plan-table p-basic\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/plan\/basic\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/08\/b-h-box-1.webp\" alt=\"h\"><\/a>\n<\/div>\n<\/div>\n\n\n\n<style>\n.plan-table{\n  display:flex;\n  flex-wrap:wrap;\n  gap:0.5rem;\n  justify-content:space-between;\n  width: calc(100% - 1rem);\n  margin:0 auto 1rem;\n}\n.plan-table a{\n  display:block;\n  width:calc(50% - 0.25rem);\n  margin-bottom:initial;\n}\n.plan-table a.nin{\n  width:100%;\n}\n.plan-table figure img{\n  width:100%;\n}\n.t-f, .t-s, .t-w, .t-b, .t-nin, .t-d {\n  font-weight: bold;\n  color: #fff;\n  font-size: 28px;\n  padding: 0.5rem 0 0.5rem 0.7rem;\n  border-radius: 1rem;\n  width: calc(100% - 1rem);\n  margin: 0 auto .5rem;\n  color:#fff!important;\n}\n.t-f:before, .t-s:before, .t-w:before, .t-b:before, .t-nin:before, .t-d:before {\n  display:none;\n}\n.t-f{\n  background-color:#e63555;\n}\n.t-s{\n  background-color:#f67b00;\n}\n.t-w{\n  background-color:#eb7f75;\n}\n.t-b{\n  background-color:#c16c4b;\n}\n.t-nin{\n  background-color:#b76565;\n}\n.t-d{\n  background-color:#9b4136;\n}\n<\/style>\n\n\n\n<\/div>\n <\/div>\n<\/div>\n-->\n\n<div class=\"pink-special-group\">\n<div class=\"special-btn btn-img\">\n<div id=\"info\">\n <p>HIRO \u8bca\u6240\u59d4\u6258\u8fdb\u884c\u68c0\u6d4b\u7684\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\uff0c\u5176\u91c7\u7528\u7684\u6b21\u4e16\u4ee3\u6d4b\u5e8f\u6280\u672f\uff08NGS\uff09\u5728\u68c0\u6d4b\u51fa 500 \u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a\u7684\u7f3a\u5931\u6216\u91cd\u590d\u65f6\uff0c\u4f1a\u5c06\u5176\u4f5c\u4e3a\u68c0\u6d4b\u7ed3\u679c\u8fdb\u884c\u62a5\u544a\u3002<\/p>\n <p>\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff08Microdeletion syndrome\uff09\u6709\u65f6\u5373\u4f7f\u5728 100 \u4e07\u81f3 500 \u4e07\u4e2a\u78b1\u57fa\u5bf9\u5de6\u53f3\u7684\u7f3a\u5931\u60c5\u51b5\u4e0b\u4e5f\u4f1a\u5f15\u53d1\u76f8\u5e94\u75c7\u72b6\uff0c\u4f46\u6839\u636e\u5177\u4f53\u75c5\u4f8b\u7684\u4e0d\u540c\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f 500 \u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a\u7684\u7f3a\u5931\u3002\u5373\u4f7f\u7f3a\u5931\u8303\u56f4\u8d85\u51fa\u4e86\u8be5\u75be\u75c5\u7279\u6709\u7684\u57fa\u56e0\u7f3a\u5931\u533a\u57df\uff0c\u4f46\u7531\u4e8e\u8be5\u57fa\u56e0\u786e\u5b9e\u5df2\u4e0d\u5b58\u5728\uff0c\u56e0\u6b64\u4ecd\u53ef\u80fd\u5f15\u8d77\u76f8\u540c\u7684\u75c7\u72b6\u6216\u66f4\u4e25\u91cd\u7684\u75be\u75c5\u3002\u57fa\u4e8e\u8fd9\u4e00\u539f\u56e0\uff0c\u6211\u4eec\u8ba4\u4e3a\u53ea\u8981\u7f3a\u5931\u90e8\u4f4d\u5305\u542b\u5728\u75be\u75c5\u7279\u6709\u7684\u533a\u57df\u5185\uff0c\u5373\u4f7f\u7f3a\u5931\u8303\u56f4\u8f83\u5e7f\uff0c\u505a\u51fa\u76f8\u540c\u7684\u8bca\u65ad\u4e5f\u662f\u5408\u7406\u7684\u3002\u7531\u4e8e\u4f7f\u7528\u201c\u5fae\u7f3a\u5931\u201d\u8fd9\u4e00\u79f0\u547c\u53ef\u80fd\u4f1a\u5f15\u8d77\u8bef\u89e3\uff0c\u56e0\u6b64\u672c\u7f51\u7ad9\u5c06\u5176\u8868\u8ff0\u4e3a\u201c\u90e8\u5206\u7f3a\u5931\u7efc\u5408\u5f81\u201d\u3002<\/p>\n <p>\u7f3a\u5931\u4e0e\u91cd\u590d\u4f1a\u6839\u636e\u53d7\u5f71\u54cd\u90e8\u4f4d\u6240\u5b58\u5728\u7684\u57fa\u56e0\u5176\u5177\u4f53\u529f\u80fd\u7684\u4e0d\u540c\uff0c\u5f15\u53d1\u5404\u79cd\u5404\u6837\u7684\u75c7\u72b6\u3002\u4f8b\u5982\uff0c\u5982\u679c\u5305\u542b\u8d1f\u8d23\u4ea7\u751f\u67d0\u79cd\u9176\u7684\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u53d1\u751f\u7f3a\u5931\uff0c\u5c31\u4f1a\u5bfc\u81f4\u9176\u7f3a\u4e4f\u75c7\uff1b\u800c\u5982\u679c\u5305\u542b\u4e0e\u9aa8\u9abc\u5f62\u6210\u76f8\u5173\u7684\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u53d1\u751f\u91cd\u590d\uff0c\u5219\u4f1a\u51fa\u73b0\u9aa8\u53d1\u80b2\u5f02\u5e38\u3002<\/p>\n <p>\u4ee5\u5f80\uff0c\u67d3\u8272\u4f53\u7684\u7f3a\u5931\u548c\u91cd\u590d\u662f\u901a\u8fc7\u5bf9\u67d3\u8272\u4f53\u8fdb\u884c\u67d3\u8272\u5e76\u5728\u663e\u5fae\u955c\u4e0b\u8fdb\u884c\u68c0\u6d4b\u7684\uff0c\u4f46\u8fd9\u79cd\u65b9\u6cd5\u53ea\u80fd\u68c0\u6d4b\u51fa 1000 \u4e07\u4e2a\u78b1\u57fa\u5bf9\uff0810Mb\uff09\u4ee5\u4e0a\u7684\u7f3a\u5931\u548c\u91cd\u590d\u3002\u8fd1\u5e74\u6765\uff0c\u968f\u7740\u6b21\u4e16\u4ee3\u6d4b\u5e8f\uff08NGS\uff09\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u7684\u5e94\u7528\uff0c\u5df2\u7ecf\u80fd\u591f\u5f00\u5c55\u7cbe\u5ea6\u66f4\u9ad8\u7684\u68c0\u6d4b\u3002\u8fd9\u4e5f\u660e\u786e\u4e86\u7f3a\u5931\u548c\u91cd\u590d\u5e76\u4e0d\u4ec5\u9650\u4e8e\u7279\u5b9a\u7684\u67d3\u8272\u4f53\uff0c\u800c\u662f\u4f1a\u53d1\u751f\u5728\u6574\u4e2a\u67d3\u8272\u4f53\u7ec4\u4e2d\u3002\u7531\u6b64\uff0c\u5173\u4e8e\u7f3a\u5931\u3001\u91cd\u590d\u4e0e\u5176\u4f34\u968f\u7684\u4e34\u5e8a\u8868\u73b0\u4e4b\u95f4\u7684\u5173\u8054\u6027\u62a5\u544a\u4e0d\u65ad\u6d8c\u73b0\uff0c\u4e14\u88ab\u8bc1\u5b9e\u5b58\u5728\u5f02\u5e38\u7684\u9057\u4f20\u4fe1\u606f\u5df2\u88ab\u5efa\u7acb\u6210\u6570\u636e\u5e93\u3002\u8be5\u6570\u636e\u5e93\u4e2d\u5305\u542b\u4e86\u591a\u4e2a\u57fa\u4e8e\u5171\u540c\u5f02\u5e38\u533a\u57df\u548c\u7279\u5f81\u6027\u4e34\u5e8a\u8868\u73b0\u7684\u62a5\u544a\u6848\u4f8b\uff0c\u5176\u4e2d\u4e5f\u5305\u62ec\u7f55\u89c1\u6848\u4f8b\u4ee5\u53ca\u6700\u65b0\u62a5\u544a\u7684\u75c5\u4f8b\u3002<\/p>\n <p>\u56e0\u6b64\uff0c\u5f53\u51fa\u73b0\u5c1a\u672a\u88ab\u62a5\u544a\u4e3a\u72ec\u7acb\u75be\u75c5\u7684\u7f3a\u5931\u6216\u91cd\u590d\u65f6\uff0c\u9700\u8981\u53c2\u8003\u75c5\u4f8b\u62a5\u544a\u6216\u57fa\u56e0\u7ec4\u6570\u636e\u5e93\u6765\u5bf9\u5176\u75c7\u72b6\u7b49\u8fdb\u884c\u8c03\u67e5\u3002\u5728\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\uff0c\u5f53\u68c0\u6d4b\u51fa\u67d3\u8272\u4f53\u7684\u90e8\u5206\u7f3a\u5931\u6216\u91cd\u590d\u65f6\uff0c\u4f1a\u68c0\u7d22\u56fd\u5185\u5916\u9ad8\u4fe1\u8a89\u5ea6\u7684\u6570\u636e\u5e93\uff0c\u5e76\u5c06\u76f8\u5e94\u7684\u75be\u75c5\u4fe1\u606f\u63d0\u4f9b\u7ed9\u8d1f\u8d23\u7684\u533b\u751f\u3002<\/p>\n <p>\u76ee\u524d\uff0c\u5c1a\u65e0\u6cd5\u5b8c\u5168\u660e\u786e\u6240\u6709\u91cd\u590d\u533a\u57df\u4e2d\u7684\u57fa\u56e0\u4e0e\u4e34\u5e8a\u8868\u73b0\u4e4b\u95f4\u7684\u5173\u8054\u6027\u3002\u6b64\u5916\uff0c\u5373\u4f7f\u786e\u8bca\u5b58\u5728\u7f3a\u5931\u6216\u91cd\u590d\uff0c\u6709\u65f6\u4e5f\u53ef\u80fd\u4e0d\u4f1a\u8868\u73b0\u51fa\u4efb\u4f55\u75c7\u72b6\u3002\u8fd9\u662f\u56e0\u4e3a\u5728\u53d1\u751f\u7f3a\u5931\u6216\u91cd\u590d\u7684\u90e8\u4f4d\uff0c\u53ef\u80fd\u5e76\u4e0d\u5b58\u5728\u6d89\u53ca\u751f\u547d\u6d3b\u52a8\u6216\u8eab\u4f53\u7ed3\u6784\u5f62\u6210\u7684\u5173\u952e\u57fa\u56e0\uff1b\u6216\u8005\u5373\u4f7f\u5b58\u5728\u57fa\u56e0\uff0c\u4e5f\u6709\u4e0d\u8868\u73b0\u51fa\u75c5\u7406\u7279\u5f81\u7684\u60c5\u51b5\u3002\u4f8b\u5982\uff0c8 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff088p23.2\uff09\u7684\u91cd\u590d\u867d\u7136\u957f\u8fbe 250 \u4e07\u4e2a\u78b1\u57fa\u5bf9\uff082.5Mb\uff09\uff0c\u4f46\u7531\u4e8e\u8be5\u533a\u57df\u4ec5\u5305\u542b\u6291\u764c\u57fa\u56e0\uff0c\u56e0\u6b64\u53ef\u80fd\u4e0d\u4f1a\u89c2\u5bdf\u5230\u5f02\u5e38\u8868\u73b0\uff0c\u901a\u5e38\u88ab\u7406\u89e3\u4e3a\u6b63\u5e38\u53d8\u5f02\u3002<\/p>\n <p>\u867d\u7136\u5728\u53d1\u73b0\u7f3a\u5931\u6216\u91cd\u590d\u65f6\u9700\u8981\u5bf9\u5176\u75c5\u7406\u5f71\u54cd\u8fdb\u884c\u9274\u522b\u8bca\u65ad\uff0c\u4f46\u5bf9\u4e8e\u6b64\u524d\u4ece\u672a\u88ab\u62a5\u544a\u8fc7\u7684\u6848\u4f8b\uff0c\u5176\u4e34\u5e8a\u5224\u65ad\u5f80\u5f80\u5177\u6709\u8f83\u5927\u96be\u5ea6\uff0c\u4e14\u5b58\u5728\u4e0e\u7f3a\u5931\u6216\u91cd\u590d\u7684\u5173\u8054\u6027\u5c1a\u4e0d\u660e\u786e\u7684\u60c5\u51b5\uff08\u5373\u610f\u4e49\u4e0d\u660e\u53d8\u5f02\uff0cvariant of unknown significance: VUS\uff09\uff0c\u8fd8\u671b\u60a8\u4e88\u4ee5\u7406\u89e3\u3002<\/p>\n<\/div>\n\n\n\n\n\n<style>\n  .plan_2 {\n    width: 100%;\n    max-width: 420px;\n    margin: 2rem auto;\n    text-align: center;\n  }\n  .plan_2 .bnr_wrapper{\n    display: flex;\n    justify-content: center;\n  }\n  .bnr_wrapper img{\n    max-width:420px;\n    min-width:300px;\n  }\n@media screen and (max-width: 700px){\n  .plan_2 img{\n    width: 90%;\n    margin: 0 auto;\n} \n.bnr_wrapper{\n    display:block!important;\n    margin: 0 auto;\n    text-align: center;  \n}\n  }\n<\/style>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\" id=\"\u540d\u3082\u306a\u304d\u75c7\u4f8b\">\u5c1a\u672a\u547d\u540d\u7684\u75c5\u4f8b<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd9\u662f\u8fd1\u5e74\u6765\u62a5\u544a\u7684\u5168\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/p>\n\n\n\n<div class=\"table-sp-scroll\">\n<table class=\"datasheet-table\" cellspacing=\"0\" cellpadding=\"5\" border=\"1\">\n<colgroup>\n    <col>\n    <col>\n    <col>\n<\/colgroup>\n<tbody>\n<tr>\n<th>\u67d3\u8272\u4f53<\/th>\n<th>\u67d3\u8272\u4f53\u5ea7\u4f4d<\/th>\n<th>\u8bba\u6587<\/th>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-02\">2\u53f7<\/a><\/th>\n<td>2p16.3-p21<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/2p16-3p21\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 2\u53f7\u67d3\u8272\u4f53\uff082p16.3-p21\uff09\u90bb\u8fd1\u57fa\u56e0\u7f3a\u5931\uff1a\u4f5c\u4e3a\u6797\u5947\u7efc\u5408\u5f81\uff08Lynch\u7efc\u5408\u5f81\uff09\u7684\u75c5\u56e0<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#sd-c-07\">7\u53f7<\/a><\/th>\n<td>7q21.3-q31.1<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/7q21-3-q-31-1-duplication\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 7\u53f7\u67d3\u8272\u4f53\uff087q21.3-q31.1\uff09\u90e8\u5206\u91cd\u590d\uff1a\u7f55\u89c1\u7684\u5206\u6bb5\u57fa\u56e0\u7ec4\u975e\u6574\u500d\u4f53\uff1a\u75c5\u4f8b\u62a5\u544a\u53ca\u6d89\u53ca\u8fdc\u7aef\u548c\u7c7b\u4f3c\u5206\u6bb5\u7684\u75c5\u4f8b\u590d\u4e60<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-12\">12\u53f7<\/a><\/th>\n<td>12q24.31-q24.33<\/td><td><a href=\"\/nipt\/\">\n<span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 12\u53f7\u67d3\u8272\u4f53\uff0812q24.31-q24.33\uff09\u90e8\u5206\u7f3a\u5931\u4f34\u81ea\u95ed\u75c7\uff1a\u6781\u7f55\u89c1\u75be\u75c5\u7684\u8ffd\u52a0\u62a5\u544a<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#sd-c-14\">14\u53f7<\/a><\/th>\n<td>14q<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/duplications-of-distal-14q\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 14\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-19\">19\u53f7<\/a><\/th>\n<td>19p13.13<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/19p13-13\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 19\u53f7\u67d3\u8272\u4f53\uff0819p13.13\uff09\u65b0\u578b\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df\u90e8\u5206\u6b20\u5931-\u91cd\u8907\u75be\u60a3\u306e\u5831\u544a\u4f8b\"><strong>\u5168\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u7efc\u5408\u5f81\u7684\u62a5\u544a\u6848\u4f8b<\/strong><\/h2>\n\n\n\n<div class=\"toggle-wrap\">\n <input type=\"checkbox\" id=\"toggle-btn-1\" class=\"toggle-checkbox\" \/>\n <label for=\"toggle-btn-1\" class=\"special-btn btn-toggle\">\n <span>\u67d3\u8272\u4f53\u7f3a\u5931<\/span>\n <\/label>\n\n <div class=\"table-sp-scroll toggle-content mb-3\">\n <div class=\"table-wrap\">\n <table class=\"datasheet-table\" cellspacing=\"0\" cellpadding=\"5\" border=\"1\">\n <colgroup>\n     <col>\n     <col>\n     <col>\n     <col>\n <\/colgroup>\n <tbody>\n <tr>\n <th>\u67d3\u8272\u4f53<\/th>\n <th>\u7f3a\u5931\u90e8\u4f4d<\/th>\n <th>\u7efc\u5408\u5f81<\/th>\n <th>\u5907\u6ce8<\/th>\n <\/tr>\n <tr>\n <th rowspan=\"3\"><a href=\"#pd-c-01\">1\u53f7<\/a><\/th>\n <td class=\"back_five\">1p12<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_08_024\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u963f\u62c9\u6770\u91cc\u7efc\u5408\u5f81\uff08Alagille\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td class=\"back_five\">1q21.1<\/td>\n <td>1q21.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td class=\"back_five\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a><\/td>\n <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4496\" target=\"_blank\" rel=\"noopener noreferrer\">1p36\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n <td>\u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/4,000\u81f31\/10,000<br>\n \u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u969c\u788d\u3001\u91cd\u5ea6\u7cbe\u795e\u53d1\u80b2\u8fdf\u6ede\u3001\u96be\u6cbb\u6027\u766b\u75eb\u7b49<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"3\"><a href=\"#pd-c-02\">2\u53f7<\/a><\/th>\n <td>2q13<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_08_028\/\" target=\"_blank\" rel=\"noopener noreferrer\">1\u578b\u9ad3\u8d28\u56ca\u6027\u80be\u75c5\uff08Nephronophthisis 1\u578b\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>2p21<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_03_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5168\u524d\u8111\u7578\u5f62\uff08\u5168\u524d\u8111\u75c7\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>2q37.3<\/td>\n <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=http:\/\/grj.umin.jp\/grj\/2q37.htm&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u7c7b\u963f\u5c14\u5e03\u8d56\u7279\uff08Albright\uff09\u7efc\u5408\u5f81\u4f34\u638c\u9aa8\/\u8dd6\u9aa8\u77ed\u7f29<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th><a href=\"#pd-c-03\">3\u53f7<\/a><\/th>\n <td>3q29<\/td>\n <td>3q29\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th><a href=\"#pd-c-04\">4\u53f7<\/a><\/th>\n <td class=\"back_five\">4p16.3<\/td>\n <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4805\" target=\"_blank\" rel=\"noopener noreferrer\">\u6c83\u592b-\u8d3a\u5e0c\u5b8f\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>\u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/50,000<br>\n \u8868\u73b0\u4e3a\u91cd\u5ea6\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u53d1\u80b2\u969c\u788d\u3001\u96be\u6cbb\u6027\u766b\u75eb\u3001\u591a\u53d1\u6027\u5f62\u6001\u5f02\u5e38\u3002<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"3\"><a href=\"#pd-c-05\">5\u53f7<\/a><\/th>\n <td class=\"back_five\">5p13.2<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5fb7\u6717\u70ed\u7efc\u5408\u5f81\uff08Cornelia de Lange\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td class=\"back_five\">5p15.2<\/td>\n <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/\">\u732b\u53eb\u7efc\u5408\u5f81<\/a><\/td>\n <td>\u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/20,000\u81f31\/50,000<br>\n \u8868\u73b0\u4e3a\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u53d1\u80b2\u969c\u788d\u3001\u732b\u53eb\u6837\u9ad8\u8c03\u557c\u54ed\u3002\u4f34\u6709\u9762\u5bb9\u7279\u5f81\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3002<br>\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 5\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\uff1a\u732b\u53eb\u7efc\u5408\u5f81\u7684\u9ad8\u5206\u8fa8\u7387\u5b9a\u4f4d<\/a><\/td>\n <\/tr>\n <tr>\n <td class=\"back_five\">5q35.3<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_002\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u7d22\u6258\u65af\u7efc\u5408\u5f81\uff08Sotos\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>\u6709\u7814\u7a76\u6307\u51fa\u7f3a\u5931\u578b\u4e0e\u91cd\u590d\u578b\u5728\u90e8\u5206\u75c7\u72b6\u4e0a\u5b58\u5728\u5dee\u5f02\u3002<br>\n \u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/14,000<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"5\"><a href=\"#pd-c-07\">7\u53f7<\/a><\/th>\n <td>7q11.23<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/04_56_073\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff08Williams\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>7p13<\/td>\n <td><a href=\"http:\/\/grj.umin.jp\/grj\/phs.htm\" target=\"_blank\" rel=\"noopener noreferrer\">\u5e15\u5229\u65af\u7279-\u970d\u5c14\u7efc\u5408\u5f81\uff08Pallister-Hall\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>7p14.1<\/td>\n <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/21296629\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u683c\u96f7\u683c\u5934\u5927\u6307\uff08\u8dbe\uff09\u591a\u6307\uff08\u8dbe\uff09\u7efc\u5408\u5f81\uff08Greig \u8111\u591a\u5408\u6307\u8dbe\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>7p21.1<\/td>\n <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/saethre-chotzen-syndrome\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u585e\u65af\u96f7-\u4e54\u5c91\u7efc\u5408\u5f81\uff08Saethre-Chotzen\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>7q36.3<\/td>\n <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/25944787\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">3\u578b\u5168\u524d\u8111\u7578\u5f62\uff08\u5168\u524d\u8111\u75c73\u578b\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"4\"><a href=\"#pd-c-08\">8\u53f7<\/a><\/th>\n <td>8q12.2<\/td>\n <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/www.shouman.jp\/disease\/details\/13_01_021\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u67e5\u5409\u7efc\u5408\u5f81\uff08CHARGE\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>8p23.1<\/td>\n <td><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/10521848\/\">8p23.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>8q23.3<\/td>\n <td>\u6bdb\u53d1-\u9f3b-\u6307\uff08\u8dbe\uff09\u9aa8\u7efc\u5408\u5f811\u578b<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>8q24.11<\/td>\n <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/medlineplus.gov\/genetics\/condition\/trichorhinophalangeal-syndrome-type-ii\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5170\u683c-\u5409\u8fea\u6069\u7efc\u5408\u5f81\uff08Langer-Giedion\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"2\"><a href=\"#pd-c-11\">11\u53f7<\/a><\/th>\n <td>11p11.2<\/td>\n <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/15852040\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u6ce2\u6258\u8328\u57fa-\u8c22\u5f17\u7efc\u5408\u5f81\uff08Potocki-Shaffer\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>11p13<\/td>\n <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5452\" target=\"_blank\" rel=\"noopener noreferrer\">WAGR\u7efc\u5408\u5f81<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th><a href=\"#pd-c-12\">12\u53f7<\/a><\/th>\n <td>12q24.13<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_41_091\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u52aa\u5357\u7efc\u5408\u5f81\uff08Noonan\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>\u66fe\u67091\u4f8b\u5173\u4e8e RAF1 \u91cd\u590d\u53ca1\u4f8b\u5173\u4e8e\u8be5\u57fa\u56e0\u7f3a\u5931\u7684\u62a5\u544a<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"2\"><a href=\"#pd-c-13\">13\u53f7<\/a><\/th>\n <td>13q14.2<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/01_05_029\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624<\/a>\u30fb\u53d1\u80b2\u8fdf\u7f13<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>13q32.3<\/td>\n <td>5\u578b\u5168\u524d\u8111\u7578\u5f62\uff08\u5168\u524d\u8111\u75c75\u578b\uff09<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"2\"><a href=\"#pd-c-15\">15\u53f7<\/a><\/th>\n <td class=\"back_five\">15q11.2\u301cq13<\/td>\n <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4768\" target=\"_blank\" rel=\"noopener noreferrer\">\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u5f81\uff08Prader-Willi\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>\u7531\u7236\u6e90\u67d3\u8272\u4f53\u57fa\u56e0\u7f3a\u5931\u5bfc\u81f4\uff0c\u75c5\u56e0\u6d89\u53ca\u6bcd\u6e90\u57fa\u56e0\u5370\u8bb0\u5f02\u5e38<br>\n \u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/10,000\u81f31\/25,000<br>\n \u8868\u73b0\u4e3a\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u8272\u7d20\u51cf\u9000\u3001\u5916\u751f\u6b96\u5668\u53d1\u80b2\u4e0d\u826f\u3002<\/td>\n <\/tr>\n <tr>\n <td class=\"back_five\">15q11.2\u301cq13<\/td>\n <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2407\" target=\"_blank\" rel=\"noopener noreferrer\">\u5b89\u683c\u66fc\u7efc\u5408\u5f81\uff08Angelman\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>\u7531 UBE3A \u57fa\u56e0\u529f\u80fd\u4e27\u5931\u5f15\u8d77<br>\n \u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/12,000<br>\n \u8868\u73b0\u4e3a\u91cd\u5ea6\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u766b\u75eb\u3001\u5171\u6d4e\u5931\u8c03\u6027\u8fd0\u52a8\u969c\u788d\u3001\u884c\u4e3a\u5f02\u5e38\u3001\u7761\u7720\u969c\u788d\u3001\u76ae\u80a4\u8272\u7d20\u51cf\u9000\u53ca\u7279\u5f81\u6027\u9762\u5bb9\u3002<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"3\"><a href=\"#pd-c-16\">16\u53f7<\/a><\/th>\n <td>16p11.2<\/td>\n <td>16p11.2\u5fae\u7f3a\u5931<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>16p13.11<\/td>\n <td>16p13.1\u5fae\u7f3a\u5931<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>16p13.3<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_004\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u9c81\u5bbe\u65af\u5766-\u6cf0\u6bd4\u7efc\u5408\u5f81\uff08Rubinstein-Taybi\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>\u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/125,000<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"3\"><a href=\"#pd-c-17\">17\u53f7<\/a><\/th>\n <td>17p13.3<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_03_005\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u7c73\u52d2-\u8fea\u514b\u7efc\u5408\u5f81\uff08Miller-Dieker\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <td>17p11.2<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_003\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u53f2\u5bc6\u65af-\u9a6c\u5409\u5229\u7efc\u5408\u5f81\uff08Smith-Magenis\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>\u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/15,000\u81f31\/25,000<\/td>\n <\/tr>\n <tr>\n <td>17q11.2<\/td>\n <td>1\u578b\u795e\u7ecf\u7ea4\u7ef4\u7624\u75c5\uff08\u795e\u7ecf\u82bd\u7ec6\u80de\u76241\u578b\uff09<\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th><a href=\"#pd-c-20\">20\u53f7<\/a><\/th>\n <td>20p12.23<\/td>\n <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_08_024\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u963f\u62c9\u6770\u91cc\u7efc\u5408\u5f81\uff08Alagille\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <tr>\n <th rowspan=\"2\"><a href=\"#pd-c-22\">22\u53f7<\/a><\/th>\n <td>22q11.2<\/td>\n <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/7977458\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">2\u578b\u8fea\u4e54\u6cbb\u7efc\u5408\u5f81\uff08DiGeorge\u7efc\u5408\u5f812\u578b\uff09<\/a><br>\n <a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5317\" target=\"_blank\" rel=\"noopener noreferrer\">22q11.2\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n <td>\u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/4,000<br>\n \u8868\u73b0\u4e3a\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u514d\u75ab\u529b\u4f4e\u4e0b\u3001\u816d\u88c2\/\u5375\u816d\u4e0d\u5168\u3001\u9f3b\u97f3\u3001\u4f4e\u9499\u8840\u75c7\u3002<\/td>\n <\/tr>\n <tr>\n <td class=\"back_five\">22q13.33<\/td>\n <td><a href=\"http:\/\/grj.umin.jp\/grj\/PhM.htm\" target=\"_blank\" rel=\"noopener noreferrer\">\u8d39\u5170-\u9ea6\u514b\u5fb7\u7c73\u5fb7\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09<\/a><\/td>\n <td>&nbsp;<\/td>\n <\/tr>\n <\/tbody>\n<\/table>\n<p class=\"can_slide\">\u53ef\u5de6\u53f3\u6ed1\u52a8\u67e5\u770b\u8868\u683c<\/p>\n<p class=\"table-note\"><span>\u62a5\u544a\u6848\u4f8b\u4ec5\u4e3a\u90e8\u5206\u7f3a\u5931\u7684\u793a\u4f8b<\/span><br>\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\u91c7\u7528\u7684\u6b21\u4e16\u4ee3\u6d4b\u5e8f\u6280\u672f\uff08NGS\uff09\u65e0\u6cd5\u68c0\u6d4b\u51fa 500 \u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0b\u7684\u7f3a\u5931\u6216\u91cd\u590d\u3002<br>\u672c\u68c0\u6d4b\u65e0\u6cd5\u6db5\u76d6\u4e0a\u8ff0\u7efc\u5408\u5f81\u7684\u6240\u6709\u5177\u4f53\u75c5\u4f8b\u3002<\/p>\n<\/div>\n<\/div>\n\n<\/div>\n\n\n\n<div class=\"toggle-wrap\">\n <input type=\"checkbox\" id=\"toggle-btn-2\" class=\"toggle-checkbox\" \/>\n <label for=\"toggle-btn-2\" class=\"special-btn btn-toggle\">\n <span>\u67d3\u8272\u4f53\u91cd\u590d<\/span>\n <\/label>\n\n <div class=\"table-sp-scroll toggle-content mb-3\">\n <div class=\"table-wrap\">\n  <table class=\"datasheet-table\" cellspacing=\"0\" cellpadding=\"5\" border=\"1\">\n    <colgroup>\n      <col>\n      <col>\n      <col>\n      <col>\n    <\/colgroup>\n    <tbody>\n      <tr>\n        <th>\u67d3\u8272\u4f53<\/th>\n        <th>\u91cd\u590d\u90e8\u4f4d<\/th>\n        <th>\u7efc\u5408\u5f81<\/th>\n        <th>\u5907\u6ce8<\/th>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-01\">1\u53f7<\/a><\/th>\n        <td class=\"back_five\">1q21.1<\/td>\n        <td>1q21.1\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/td>\n        <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/1q21-1-microduplications\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 1q21.1 \u90e8\u5206\u91cd\u590d<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-02\">2\u53f7<\/a><\/th>\n        <td>2p21<\/td>\n        <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_03_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5168\u524d\u8111\u7578\u5f62\uff08\u5168\u524d\u8111\u75c7\uff09<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-03\">3\u53f7<\/a><\/th>\n        <td>3q29<\/td>\n        <td>3q29\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"2\"><a href=\"#sd-c-05\">5\u53f7<\/a><\/th>\n        <td class=\"back_five\">5p13.2<\/td>\n        <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5fb7\u6717\u70ed\u7efc\u5408\u5f81\uff08Cornelia de Lange\u7efc\u5408\u5f81\uff09<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <td class=\"back_five\">5q35.3<\/td>\n        <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_002\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u7d22\u6258\u65af\u7efc\u5408\u5f81\uff08Sotos\u7efc\u5408\u5f81\uff09<\/a><\/td>\n        <td>\u6709\u7814\u7a76\u6307\u51fa\u7f3a\u5931\u578b\u4e0e\u91cd\u590d\u578b\u5728\u90e8\u5206\u75c7\u72b6\u4e0a\u5b58\u5728\u5dee\u5f02\u3002<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-08\">8\u53f7<\/a><\/th>\n        <td>8p23.1<\/td>\n        <td><a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37120\"> 8p23.1\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-09\">9\u53f7<\/a><\/th>\n        <td>9q34.13<\/td>\n        <td>1\u578b\u7ed3\u8282\u6027\u786c\u5316\u75c7<\/td>\n        <td>\u7531 TSC1 \u57fa\u56e0\u7a81\u53d8\u5f15\u8d77<br>\n          \u53d1\u75c5\u7387\u7ea6\u4e3a 1\/5,800<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-10\">10\u53f7<\/a><\/th>\n        <td>10q24.3<\/td>\n        <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/25257335\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">10q24\u67d3\u8272\u4f53\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      \n<th><a href=\"#sd-c-11\">11\u53f7<\/a><\/th>\n        <td>11p13<\/td>\n        <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5452\" target=\"_blank\" rel=\"noopener noreferrer\">WAGR\u7efc\u5408\u5f81<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-12\">12\u53f7<\/a><\/th>\n        <td>12q24.1<\/td>\n        <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_41_091\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u52aa\u5357\u7efc\u5408\u5f81\uff08Noonan\u7efc\u5408\u5f81\uff09<\/a><\/td>\n        <td>\u66fe\u67091\u4f8b\u5173\u4e8e RAF1 \u91cd\u590d\u53ca1\u4f8b\u5173\u4e8e\u8be5\u57fa\u56e0\u7f3a\u5931\u7684\u62a5\u544a<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-13\">13\u53f7<\/a><\/th>\n        <td>13q32.3<\/td>\n        <td>5\u578b\u5168\u524d\u8111\u7578\u5f62\uff08\u5168\u524d\u8111\u75c75\u578b\uff09<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n  \n  <tr>\n        <th><a href=\"#sd-c-15\">15\u53f7<\/a><\/th>\n        <td class=\"back_five\">15q26qter<\/td>\n        <td>\u8fc7\u5ea6\u751f\u957f\u30fb\u667a\u529b\u969c\u788d<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"4\"><a href=\"#sd-c-16\">16\u53f7<\/a><\/th>\n        <td>16p11.2<\/td>\n        <td>16p11.2\u5fae\u91cd\u590d<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <td>16p13.3<\/td>\n        <td>2\u578b\u7ed3\u8282\u6027\u786c\u5316\u75c7<\/td>\n        <td>\u7531 TSC2 \u57fa\u56e0\u7a81\u53d8\u5f15\u8d77<br>\n          \u53d1\u75c5\u7387\u7ea6\u4e3a 1\/5,800<\/td>\n      <\/tr>\n      <tr>\n        <td>16p13.3<\/td>\n        <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_004\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u9c81\u5bbe\u65af\u5766-\u6cf0\u6bd4\u7efc\u5408\u5f81\uff08Rubinstein-Taybi\u7efc\u5408\u5f81\uff09<\/a><\/td>\n        <td>\u7531 CREBBP \u57fa\u56e0\u7a81\u53d8\u5f15\u8d77<br>\n          \u53d1\u75c5\u7387\uff08\u51fa\u751f\u65f6\uff09\u4e3a1\/125,000<\/td>\n      <\/tr>\n      <tr>\n        <td>16p13.11<\/td>\n        <td>16p13.1\u5fae\u91cd\u590d<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"3\"><a href=\"#sd-c-17\">17\u53f7<\/a><\/th>\n        <td>17p11.2<\/td>\n        <td>\u6ce2\u6258\u8328\u57fa-\u5362\u666e\u65af\u57fa\u7efc\u5408\u5f81\uff08Potocki-Lupski\u7efc\u5408\u5f81\uff09<\/td>\n        <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/duplication-17p11-2-in-a-child-with-developmental-delay\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 17\u53f7\u67d3\u8272\u4f53\uff0817p11.2\uff09\u90e8\u5206\u91cd\u590d\uff1a\u53d1\u80b2\u8fdf\u7f13\u60a3\u513f\u7684\u91cd\u590d\u75c5\u4f8b<\/a><\/td>\n      <\/tr>\n      <tr>\n        <td>17p12<\/td>\n        <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_19_044\/\" target=\"_blank\" rel=\"noopener noreferrer\">1A\u578b\u8153\u9aa8\u808c\u840e\u7f29\u75c7\uff08Charcot-Marie-Tooth 1A\u578b\uff09<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <td>17q21.31b<\/td>\n        <td>17q21.31\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"2\"><a href=\"#sd-c-22\">22\u53f7<\/a><\/th>\n        <td class=\"back_five\">22q11.1<\/td>\n        <td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/21165297\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u732b\u773c\u7efc\u5408\u5f81<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <td class=\"back_five\">22q11.2<\/td>\n        <td><a href=\"http:\/\/grj.umin.jp\/grj\/22q11_2duplication.htm\n\" target=\"_blank\" rel=\"noopener noreferrer\">22q11.2\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n        <td>\u8868\u73b0\u4e3a\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u514d\u75ab\u529b\u4f4e\u4e0b\u3001\u816d\u88c2\/\u5375\u816d\u4e0d\u5168\u3001\u9f3b\u97f3\u3001\u4f4e\u9499\u8840\u75c7\u3002<\/td>\n      <\/tr>\n    <\/tbody>\n  <\/table>\n  <p class=\"can_slide\">\u53ef\u5de6\u53f3\u6ed1\u52a8\u67e5\u770b\u8868\u683c<\/p>\n  <p class=\"table-note\"><span>\u62a5\u544a\u6848\u4f8b\u4ec5\u4e3a\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u7684\u793a\u4f8b<\/span><br>\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\u91c7\u7528\u7684\u6b21\u4e16\u4ee3\u6d4b\u5e8f\u6280\u672f\uff08NGS\uff09\u65e0\u6cd5\u68c0\u6d4b\u51fa 500 \u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0b\u7684\u7f3a\u5931\u6216\u91cd\u590d\u3002<br>\u672c\u68c0\u6d4b\u65e0\u6cd5\u6db5\u76d6\u4e0a\u8ff0\u7efc\u5408\u5f81\u7684\u6240\u6709\u5177\u4f53\u75c5\u4f8b\u3002<\/p>\n<\/div>\n<\/div>\n\n<\/div>\n<\/div><\/div>\n\n\n\n<h3>1\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-01\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c01\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c01\" class=\"special-btn btn-toggle\">\n  <span>1\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p>\u5728<strong>\u90e8\u5206\u7f3a\u5931<\/strong>\u4e2d\uff0c\u7531\u4e8e\u67d3\u8272\u4f53\u7279\u5b9a\u533a\u57df\u5185\u5b58\u5728\u7684\u57fa\u56e0\u4e22\u5931\uff0c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u80b2\u969c\u788d\u6216\u5f15\u53d1\u7279\u5b9a\u7684\u7efc\u5408\u5f81\u3002<\/p>\n    \n   <p class=\"text-subtitle\">1p36\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e1\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a>\uff09\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u884c\u4e3a\u95ee\u9898\u3001\u5fc3\u810f\u5f02\u5e38\u4ee5\u53ca\u7279\u5f81\u6027\u7684\u9762\u90e8\u5f02\u5e38\uff08\u4f8b\u5982\u524d\u989d\u5bbd\u5927\u3001\u773c\u7a9d\u8f83\u6d45\u7b49\uff09\u3002\u6b64\u5916\uff0c\u6709\u65f6\u8fd8\u4f1a\u4f34\u6709\u766b\u75eb\u53d1\u4f5c\u6216\u542c\u529b\u95ee\u9898\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">1q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e1\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff081q\uff09\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u9762\u90e8\u7578\u5f62\u3001\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002\u6b64\u5916\uff0c\u4e5f\u6709\u4f34\u968f\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u766b\u75eb\u7684\u75c5\u4f8b\u62a5\u544a\u3002<\/li>\n   <\/ul>\n\n   <p>1q21.1\u7f3a\u5931\u7efc\u5408\u5f81\uff1a\u5f531\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u768421.1\u533a\u57df\u53d1\u751f\u7f3a\u5931\u65f6\uff0c\u60a3\u5fc3\u810f\u75be\u75c5\u3001\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u7b49\u75be\u75c5\u98ce\u9669\u4f1a\u968f\u4e4b\u589e\u52a0\u3002<\/p>\n   <p class=\"mb-0\">1q42.13\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u7531\u4e8e1\u53f7\u67d3\u8272\u4f53\u957f\u81c242.13\u533a\u57df\u7f3a\u5931\u5bfc\u81f4\u7684\u7efc\u5408\u5f81\uff09<\/p> \n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-01\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c01\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c01\" class=\"special-btn btn-toggle\">\n  <span>1\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n    <p>\u5728<strong>\u90e8\u5206\u91cd\u590d<\/strong>\u4e2d\uff0c\u7531\u4e8e\u67d3\u8272\u4f53\u7279\u5b9a\u533a\u57df\u5185\u7684\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u5bfc\u81f4\u5065\u5eb7\u6216\u53d1\u80b2\u51fa\u73b0\u5f02\u5e38\u3002<\/p>\n\n    <p class=\"text-subtitle\">1p36\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n    <ul>\n    <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e1p36\u533a\u57df\u7684\u57fa\u56e0\u53d1\u751f\u91cd\u590d\uff0c\u5bfc\u81f4\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\u3002<\/li>\n    <li><strong>\u75c7\u72b6\uff1a<\/strong> \u5177\u4f53\u75c7\u72b6\u56e0\u91cd\u590d\u7684\u4f4d\u7f6e\u548c\u8303\u56f4\u800c\u5f02\uff0c\u5e38\u89c1\u8868\u73b0\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u4ee5\u53ca\u7279\u5f81\u6027\u7684\u9762\u90e8\u7578\u5f62\u3002\u6b64\u5916\uff0c\u4e5f\u6709\u4f34\u968f\u5fc3\u810f\u5f02\u5e38\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u884c\u4e3a\u95ee\u9898\uff08\u5982\u81ea\u95ed\u75c7\u503e\u5411\u7b49\uff09\u7684\u75c5\u4f8b\u62a5\u544a\u3002<\/li>\n    <\/ul>\n\n    <p class=\"text-subtitle\">1q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n    <ul>\n    <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e1\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff081q\uff09\u53d1\u751f\u91cd\u590d\uff0c\u5bfc\u81f4\u7279\u5b9a\u57fa\u56e0\u5f02\u5e38\u589e\u591a\u3002<\/li>\n    <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\uff08\u5982\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\uff09\u4ee5\u53ca\u808c\u5f20\u529b\u4f4e\u4e0b\u3002\u6839\u636e\u91cd\u590d\u7684\u5177\u4f53\u4f4d\u7f6e\u4e0d\u540c\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\u53ef\u80fd\u5b58\u5728\u5dee\u5f02\u3002<\/li>\n    <\/ul>\n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>2\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-02\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c02\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c02\" class=\"special-btn btn-toggle\">\n  <span>2\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p><strong>2\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u4e22\u5931\uff0c\u5bfc\u81f4\u5173\u952e\u57fa\u56e0\u7f3a\u4e4f\uff0c\u4ece\u800c\u5f15\u53d1\u53d1\u80b2\u53ca\u8eab\u4f53\u7ed3\u6784\u4e0a\u7684\u95ee\u9898\u3002\u4ee5\u4e0b\u662f\u4e0e\u7279\u5b9a\u90e8\u5206\u7f3a\u5931\u76f8\u5173\u7684\u7efc\u5408\u5f81\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">2q37\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e2\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff082q\uff09\u768437\u533a\u57df\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u884c\u4e3a\u95ee\u9898\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u9aa8\u9abc\u53d1\u80b2\u5f02\u5e38\uff08\u5982\u77ed\u6307\/\u8dbe\u75c7\uff09\u3001\u80a5\u80d6\u4ee5\u53ca\u5fc3\u810f\u95ee\u9898\u3002\u6b64\u5916\uff0c\u60a3\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u7684\u98ce\u9669\u4e5f\u8f83\u9ad8\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">2p16.3\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e2\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff082p\uff09\u768416.3\u533a\u57df\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8bed\u8a00\u53d1\u80b2\u843d\u540e\u3001\u9762\u90e8\u5f62\u6001\u5f02\u5e38\uff08\u5982\u524d\u989d\u5bbd\u5927\u3001\u5c0f\u988c\u7578\u5f62\uff09\u7b49\u3002\u6b64\u5916\uff0c\u4e5f\u4f1a\u51fa\u73b0\u884c\u4e3a\u5f02\u5e38\u548c\u5b66\u4e60\u969c\u788d\u3002<\/li>\n   <\/ul>\n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-02\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c02\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c02\" class=\"special-btn btn-toggle\">\n  <span>2\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p><strong>2\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u5f15\u53d1\u5404\u79cd\u5065\u5eb7\u95ee\u9898\u3002\u4ee5\u4e0b\u662f\u4e0e\u7279\u5b9a\u90e8\u5206\u91cd\u590d\u76f8\u5173\u7684\u7efc\u5408\u5f81\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">2q13\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e2\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff082q\uff09\u768413\u533a\u57df\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u4ee5\u53ca\u7279\u5f81\u6027\u9762\u5bb9\u3002\u6b64\u5916\uff0c\u6839\u636e\u91cd\u590d\u7684\u5177\u4f53\u533a\u57df\u4e0d\u540c\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">2q23.1\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e2q23.1\u533a\u57df\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u6027\u9762\u90e8\u5f62\u6001\u3001\u884c\u4e3a\u95ee\u9898\u4ee5\u53ca\u7761\u7720\u969c\u788d\u3002<\/li>\n   <\/ul>\n\n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>3\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-03\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c03\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c03\" class=\"special-btn btn-toggle\">\n  <span>3\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p><strong>\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7279\u5b9a\u90e8\u5206\u4e22\u5931\uff0c\u5bfc\u81f4\u8be5\u533a\u57df\u5185\u7684\u57fa\u56e0\u65e0\u6cd5\u53d1\u6325\u6b63\u5e38\u529f\u80fd\uff0c\u4ece\u800c\u5f15\u53d1\u5065\u5eb7\u95ee\u9898\u3002<\/p>\n    \n   <p class=\"text-subtitle\">3p\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e3\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff083p\uff09\u53d1\u751f\u90e8\u5206\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u6027\u9762\u90e8\u5f02\u5e38\u4ee5\u53ca\u5fc3\u810f\u95ee\u9898\u3002\u6b64\u5916\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f\u766b\u75eb\u6216\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">3q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e3\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff083q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5b9a\u7684\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\uff08\u5982\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u3001\u56db\u80a2\u7578\u5f62\uff09\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-03\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c03\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c03\" class=\"special-btn btn-toggle\">\n  <span>3\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u7279\u5b9a\u90e8\u5206\u91cd\u590d\u5b58\u5728\uff0c\u5bfc\u81f4\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u5f15\u53d1\u53d1\u80b2\u6216\u5065\u5eb7\u65b9\u9762\u7684\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">3q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e3\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff083q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u591a\u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u9762\u90e8\u7279\u5f81\u6027\u5f02\u5e38\u3001\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\uff0c\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u884c\u4e3a\u95ee\u9898\u548c\u766b\u75eb\u7684\u75c5\u4f8b\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>4\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-04\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c04\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c04\" class=\"special-btn btn-toggle\">\n  <span>4\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p><strong>4\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">4p\u7f3a\u5931\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn\u7efc\u5408\u5f81 \/ \u6c83\u592b-\u8d3a\u5e0c\u5b8f\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e4\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff084p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u91cd\u5ea6\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u7279\u5f81\u6027\u9762\u90e8\u5f62\u6001\uff08\u5982\u201c\u5e0c\u814a\u5934\u76d4\u6837\u201d\u9762\u5bb9\uff09\u3001\u60ca\u53a5\u3001\u5fc3\u810f\u7578\u5f62\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u7b49\u3002\u8be5\u7efc\u5408\u5f81\u88ab\u8ba4\u4e3a\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">4q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e4\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff084q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3001\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u3002\u6b64\u5916\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u8fd0\u52a8\u53d1\u80b2\u843d\u540e\u3002<\/li>\n   <\/ul>\n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-04\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c04\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c04\" class=\"special-btn btn-toggle\">\n  <span>4\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>4\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u533a\u57df\u5f02\u5e38\u589e\u591a\uff0c\u5bfc\u81f4\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u80b2\u6216\u5065\u5eb7\u65b9\u9762\u51fa\u73b0\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">4p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e4\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff084p\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u7279\u5f81\u6027\u7684\u9762\u90e8\u5f62\u6001\u3002\u6b64\u5916\uff0c\u6709\u65f6\u4e5f\u4f1a\u8868\u73b0\u51fa\u884c\u4e3a\u95ee\u9898\u6216\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">4q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e4\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff084q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u4ee5\u53ca\u8fd0\u52a8\u80fd\u529b\u53d1\u80b2\u843d\u540e\u7b49\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>5\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-05\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c05\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c05\" class=\"special-btn btn-toggle\">\n  <span>5\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u5bfc\u81f4\u5173\u952e\u57fa\u56e0\u65e0\u6cd5\u53d1\u6325\u6b63\u5e38\u529f\u80fd\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u5065\u5eb7\u548c\u53d1\u80b2\u9020\u6210\u4e0d\u826f\u5f71\u54cd\u3002<\/p>\n    \n   <p class=\"text-subtitle\">5p\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u732b\u53eb\u7efc\u5408\u5f81 \/ Cri-du-chat\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e5\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff085p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002\u8be5\u7efc\u5408\u5f81\u4e5f\u88ab\u79f0\u4e3a\u201c\u732b\u53eb\u7efc\u5408\u5f81\u201d\uff0c\u5728\u65b0\u751f\u513f\u671f\u5e38\u8868\u73b0\u51fa\u7279\u5f81\u6027\u7684\u3001\u7c7b\u4f3c\u4e8e\u201c\u732b\u53eb\u58f0\u201d\u7684\u557c\u54ed\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u6027\u9762\u5bb9\uff08\u5982\u5c0f\u988c\u7578\u5f62\u3001\u5bbd\u9f3b\u6881\u3001\u5916\u773c\u89d2\u4e0b\u659c\uff09\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u4ee5\u53ca\u884c\u4e3a\u95ee\u9898\u3002\u5728\u4e25\u91cd\u75c5\u4f8b\u4e2d\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f\u5fc3\u810f\u7578\u5f62\u6216\u547c\u5438\u7cfb\u7edf\u95ee\u9898\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">5q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e5\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff085q\uff09\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u7684\u4e00\u79cd\u8840\u6db2\u7cfb\u7edf\u75be\u75c5\u3002\u8be5\u5f02\u5e38\u4e0e\u9aa8\u9ad3\u589e\u751f\u5f02\u5e38\u7efc\u5408\u5f81\uff08MDS\uff09\u5bc6\u5207\u76f8\u5173\uff0c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u5236\u9020\u7ea2\u7ec6\u80de\u7684\u7ec6\u80de\u51fa\u73b0\u5f02\u5e38\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u8d2b\u8840\u3001\u9aa8\u9ad3\u8870\u7aed\u3001\u75b2\u52b3\u611f\u4ee5\u53ca\u514d\u75ab\u7cfb\u7edf\u5f02\u5e38\u30025q\u7f3a\u5931\u7efc\u5408\u5f81\u5c24\u5176\u591a\u89c1\u4e8e\u6210\u5e74\u5973\u6027\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-05\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c05\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c05\" class=\"special-btn btn-toggle\">\n  <span>5\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d\uff0c\u5bfc\u81f4\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u5065\u5eb7\u548c\u53d1\u80b2\u9020\u6210\u5f71\u54cd\u3002<\/p>\n    \n   <p class=\"text-subtitle\">5q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e5\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff085q\uff09\u53d1\u751f\u90e8\u5206\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u8fd0\u52a8\u53d1\u80b2\u843d\u540e\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u884c\u4e3a\u95ee\u9898\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>6\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-06\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c06\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c06\" class=\"special-btn btn-toggle\">\n  <span>6\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>6\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u8be5\u533a\u57df\u5185\u7684\u57fa\u56e0\u4e22\u5931\uff0c\u53ef\u80fd\u4f1a\u5f15\u53d1\u5404\u79cd\u5065\u5eb7\u95ee\u9898\u3002\u7279\u522b\u9700\u8981\u6ce8\u610f\u7684\u662f\uff0c6\u53f7\u67d3\u8272\u4f53\u5305\u542b<strong>\u4eba\u7c7b\u767d\u7ec6\u80de\u6297\u539f\uff08HLA\uff09<\/strong>\u57fa\u56e0\uff0c\u8fd9\u4e9b\u57fa\u56e0\u5728\u514d\u75ab\u5e94\u7b54\u4e2d\u53d1\u6325\u7740\u91cd\u8981\u4f5c\u7528\u3002<\/p>\n    \n   <p class=\"text-subtitle\">6p\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e6\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff086p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u884c\u4e3a\u95ee\u9898\u4ee5\u53ca\u514d\u75ab\u7cfb\u7edf\u5f02\u5e38\u3002\u6b64\u5916\uff0c\u5728\u8eab\u4f53\u7ed3\u6784\u7279\u5f81\u65b9\u9762\uff0c\u4e5f\u6709\u4f34\u968f\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u548c\u624b\u8db3\u5f02\u5e38\u7684\u75c5\u4f8b\u62a5\u544a\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">6q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e6\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff086q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\uff08\u7279\u522b\u662f\u5fc3\u810f\u6216\u80be\u810f\uff09\uff0c\u6b64\u5916\uff0c\u60a3\u884c\u4e3a\u95ee\u9898\u548c\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u7684\u98ce\u9669\u4e5f\u53ef\u80fd\u4f1a\u968f\u4e4b\u589e\u9ad8\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-06\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c06\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c06\" class=\"special-btn btn-toggle\">\n  <span>6\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>6\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u5b58\u5728\u5f02\u5e38\u589e\u591a\u7684\u57fa\u56e0\uff0c\u5bfc\u81f4\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u5f15\u53d1\u53d1\u80b2\u6216\u5065\u5eb7\u65b9\u9762\u7684\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">6q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e6\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff086q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u5fc3\u810f\u5f02\u5e38\uff0c\u6b64\u5916\u4e5f\u6709\u60a3\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u98ce\u9669\u589e\u52a0\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>7\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-07\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c07\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c07\" class=\"special-btn btn-toggle\">\n  <span>7\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>7\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u57fa\u56e0\u7684\u4e00\u90e8\u5206\u4e22\u5931\uff0c\u4ece\u800c\u5f15\u53d1\u5065\u5eb7\u95ee\u9898\u3002\u7279\u522b\u662f\u4ee5\u4e0b\u7efc\u5408\u5f81\u5e7f\u4e3a\u4eba\u77e5\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff08Williams Syndrome\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u4e3b\u8981\u539f\u56e0\u662f\u4f4d\u4e8e7\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff087q11.23\uff09\u7684<strong>ELN\uff08\u5f39\u6027\u86cb\u767d\uff09\u57fa\u56e0<\/strong>\u53d1\u751f\u7f3a\u5931\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u5fc3\u8840\u7ba1\u95ee\u9898\uff08\u7279\u522b\u662f\u4e3b\u52a8\u8109\u74e3\u72ed\u7a84\uff09\u3001\u7279\u5f81\u6027\u9762\u5bb9\uff08\u5982\u5c0f\u9f3b\u3001\u5927\u5634\uff09\u4ee5\u53ca\u8fc7\u4e8e\u793e\u4ea4\u7684\u6027\u683c\uff08\u6781\u5176\u53cb\u5584\uff09\u3002\u6b64\u5916\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f\u53d1\u80b2\u8fdf\u7f13\u6216\u5b66\u4e60\u969c\u788d\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">7q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e7\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u9762\u90e8\u7578\u5f62\uff08\u5982\u773c\u8ddd\u8fc7\u5bbd\u7b49\uff09\u3001\u751f\u957f\u53d1\u80b2\u969c\u788d\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u95ee\u9898\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-07\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c07\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c07\" class=\"special-btn btn-toggle\">\n  <span>7\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>7\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u5bf9\u5065\u5eb7\u548c\u53d1\u80b2\u9020\u6210\u5f71\u54cd\u3002\u53ef\u80fd\u4f1a\u51fa\u73b0\u4ee5\u4e0b\u75c7\u72b6\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">7q11.23\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e7\u53f7\u67d3\u8272\u4f53\u7684\u540c\u4e00\u533a\u57df\uff087q11.23\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002\u8fd9\u4e0e\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\u7684\u60c5\u51b5\u76f8\u53cd\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e3b\u8981\u7279\u5f81\u5305\u62ec\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8bed\u8a00\u53d1\u80b2\u843d\u540e\u4ee5\u53ca\u5b66\u4e60\u969c\u788d\u3002\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u884c\u4e3a\u95ee\u9898\u548c\u611f\u89c9\u8fc7\u654f\u7684\u75c5\u4f8b\u62a5\u544a\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">7p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e7\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u6216\u6d88\u5316\u7cfb\u7edf\u95ee\u9898\u3002\u6b64\u5916\uff0c\u4e5f\u6709\u4f34\u968f\u884c\u4e3a\u969c\u788d\u548c\u7761\u7720\u969c\u788d\u7684\u75c5\u4f8b\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>8\u53f7\u67d3\u8272\u4f53:\uff1d\uff1e\u8bf7\u53c2\u9605\u6d77\u62a5<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-08\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c08\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c08\" class=\"special-btn btn-toggle\">\n  <span>8\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>8\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u4ece\u800c\u5bfc\u81f4\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002\u4ee5\u4e0b\u662f\u4e0e8\u53f7\u67d3\u8272\u4f53\u7f3a\u5931\u76f8\u5173\u7684\u4ee3\u8868\u6027\u7efc\u5408\u5f81\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">8p\u7f3a\u5931\u7efc\u5408\u5f81\uff088p\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e8\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff088p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5\u4ee5\u53ca\u8fd0\u52a8\u534f\u8c03\u969c\u788d\u3002\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u8bed\u8a00\u53d1\u80b2\u843d\u540e\u548c\u884c\u4e3a\u95ee\u9898\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">\u5170\u683c-\u5409\u8fea\u6069\u7efc\u5408\u5f81\uff08Langer-Giedion\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e\u4f4d\u4e8e8\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff088q\uff09\u7684 TRPS1 \u57fa\u56e0\u548c EXT1 \u57fa\u56e0\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u9aa8\u9abc\u53d1\u80b2\u5f02\u5e38\uff08\u7279\u522b\u662f\u624b\u6307\/\u8dbe\u6216\u9aa8\u9abc\u7684\u751f\u957f\u969c\u788d\uff09\u4ee5\u53ca\u8131\u53d1\u75c7\uff08\u6bdb\u53d1\u80b2\u4e0d\u826f\uff09\u7b49\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-08\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c08\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c08\" class=\"special-btn btn-toggle\">\n  <span>8\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>8\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5f15\u53d1\u53d1\u80b2\u6216\u5065\u5eb7\u65b9\u9762\u7684\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">8p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e8\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff088p\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u3001\u5fc3\u810f\u5f02\u5e38\u4ee5\u53ca\u7c7b\u4f3c\u4e8e\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u7684\u884c\u4e3a\u95ee\u9898\u3002\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u56e0\u91cd\u590d\u533a\u57df\u7684\u8303\u56f4\u800c\u5f02\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">8q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e8\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff088q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u8fd0\u52a8\u534f\u8c03\u969c\u788d\u4ee5\u53ca\u5fc3\u810f\u5f02\u5e38\u3002\u6b64\u5916\uff0c\u4e5f\u4f1a\u51fa\u73b0\u884c\u4e3a\u95ee\u9898\u548c\u5b66\u4e60\u969c\u788d\u3002<\/li>\n   <\/ul>\n   \n   <p>8p23.1 \u7f3a\u5931\u7efc\u5408\u5f81\uff08\u7531\u4e8e8\u53f7\u67d3\u8272\u4f53p23.1\u533a\u57df\u7f3a\u5931\u5bfc\u81f4\u7684\u7efc\u5408\u5f81\uff09<\/p>\n   <p>8p23.1 \u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u8be6\u89c1\u6d77\u62a5\uff09<\/p>\n   <p class=\"mb-0\">8p23.1 \u91cd\u590d\u7efc\u5408\u5f81\uff08\u8be6\u89c1\u6d77\u62a5\uff09<\/p>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>9\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-09\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c09\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c09\" class=\"special-btn btn-toggle\">\n  <span>9\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>9\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u4ece\u800c\u5f15\u53d1\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002\u4e34\u5e8a\u4e0a\u5df2\u77e5\u7684\u76f8\u5173\u7efc\u5408\u5f81\u5982\u4e0b\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">9p\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e9\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff089p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\uff08\u5982\u5bbd\u9f3b\u6881\u3001\u9f3b\u5b54\u4e0a\u7ffb\u3001\u773c\u8ddd\u8fc7\u5bbd\u7b49\uff09\u3001\u751f\u957f\u53d1\u80b2\u969c\u788d\u4ee5\u53ca\u8fd0\u52a8\u529f\u80fd\u53d1\u80b2\u843d\u540e\u3002\u6b64\u5916\uff0c\u4e5f\u6709\u4f34\u968f\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u7684\u62a5\u544a\u3002<\/li>\n   <li><strong>\u522b\u540d\uff1a<\/strong> \u4e5f\u88ab\u79f0\u4e3a\u963f\u5c14\u83f2\u7efc\u5408\u5f81\uff08Alfi&#8217;s Syndrome\uff09\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">9q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e9\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff089q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u5fc3\u810f\u6216\u6d88\u5316\u7cfb\u7edf\u5f02\u5e38\u4ee5\u53ca\u514d\u75ab\u7f3a\u9677\u7b49\u3002\u5177\u4f53\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u56e0\u7f3a\u5931\u533a\u57df\u7684\u4e0d\u540c\u800c\u5b58\u5728\u5dee\u5f02\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-09\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c09\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c09\" class=\"special-btn btn-toggle\">\n  <span>9\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>9\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u53d1\u80b2\u548c\u5065\u5eb7\u9020\u6210\u5f71\u54cd\u3002<\/p>\n    \n   <p class=\"text-subtitle\">9p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e9\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff089p\uff09\u7684\u76f8\u5173\u533a\u57df\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u4ee5\u53ca\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u7b49\u3002\u6839\u636e\u91cd\u590d\u533a\u57df\u7684\u5927\u5c0f\u4e0d\u540c\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\u53ef\u80fd\u5b58\u5728\u5dee\u5f02\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">9q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e9\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff089q\uff09\u7684\u76f8\u5173\u533a\u57df\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u884c\u4e3a\u95ee\u9898\u4ee5\u53ca\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002\u7279\u522b\u662f\u5fc3\u810f\u3001\u6d88\u5316\u7cfb\u7edf\u6216\u80be\u810f\u53ef\u80fd\u4f1a\u51fa\u73b0\u95ee\u9898\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>10\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-10\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c10\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c10\" class=\"special-btn btn-toggle\">\n  <span>10\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>10\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">10q\u7f3a\u5931\u7efc\u5408\u5f81\uff0810q\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e10\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff0810q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002\u6b64\u5916\uff0c\u8fd0\u52a8\u529f\u80fd\u53d1\u80b2\u843d\u540e\u548c\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u4e5f\u8f83\u4e3a\u5e38\u89c1\u3002<\/li>\n   <li><strong>\u6cbb\u7597\uff1a<\/strong> \u5bf9\u4e8e\u8be5\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u65e9\u671f\u5e72\u9884\u4e0e\u5eb7\u590d\u8bad\u7ec3\u81f3\u5173\u91cd\u8981\uff0c\u9700\u8981\u8fdb\u884c\u53d1\u80b2\u652f\u6301\u548c\u533b\u7597\u62a4\u7406\u3002\u9488\u5bf9\u5fc3\u810f\u5f02\u5e38\u7b49\u75c7\u72b6\uff0c\u6709\u65f6\u4e5f\u53ef\u80fd\u9700\u8981\u8fdb\u884c\u5916\u79d1\u624b\u672f\u6cbb\u7597\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">10p\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e10\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0810p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u751f\u957f\u53d1\u80b2\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002\u7279\u5f81\u6027\u7684\u9762\u90e8\u5f62\u6001\u5305\u62ec\u5bbd\u9f3b\u6881\u3001\u9f3b\u5b54\u4e0a\u7ffb\u4ee5\u53ca\u773c\u8ddd\u8fc7\u5bbd\u7b49\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-10\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c10\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c10\" class=\"special-btn btn-toggle\">\n  <span>10\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>10\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u5f02\u5e38\u589e\u591a\uff0c\u5bfc\u81f4\u7279\u5b9a\u7684\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u5bf9\u5065\u5eb7\u9020\u6210\u5f71\u54cd\u3002<\/p>\n    \n   <p class=\"text-subtitle\">10q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e10\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff0810q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u3001\u5fc3\u810f\u6216\u6d88\u5316\u7cfb\u7edf\u95ee\u9898\u3002\u6839\u636e\u91cd\u590d\u7684\u8303\u56f4\u548c\u4f4d\u7f6e\u4e0d\u540c\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\u53ef\u80fd\u5b58\u5728\u5dee\u5f02\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">10p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e10\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0810p\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u884c\u4e3a\u95ee\u9898\u3001\u7279\u5f81\u6027\u9762\u90e8\u5f62\u6001\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>11\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-11\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c11\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c11\" class=\"special-btn btn-toggle\">\n  <span>11\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>11\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u5bfc\u81f4\u7279\u5b9a\u57fa\u56e0\u529f\u80fd\u7f3a\u5931\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5f15\u53d1\u53d1\u80b2\u8fdf\u7f13\u3084\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002\u4ee3\u8868\u6027\u7efc\u5408\u5f81\u5982\u4e0b\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">\u80be\u6bcd\u7ec6\u80de\u7624\uff08WT1\u57fa\u56e0\u7f3a\u5931\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e\u4f4d\u4e8e11\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0811p\uff09\u7684 WT1 \u57fa\u56e0\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002\u8be5\u57fa\u56e0\u53c2\u4e0e\u80be\u810f\u53d1\u80b2\uff0c\u5e76\u5728\u6291\u5236\u80bf\u7624\u65b9\u9762\u53d1\u6325\u7740\u91cd\u8981\u4f5c\u7528\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u80be\u810f\u6076\u6027\u80bf\u7624\uff08\u80be\u6bcd\u7ec6\u80de\u7624 \/ Wilms\u7624\uff09\u3001\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u5f02\u5e38\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f\u6027\u53d1\u80b2\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">\u8d1d\u514b\u5a01\u601d-\u5a01\u5fb7\u66fc\u7efc\u5408\u5f81\uff08BWS\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e11p15.5\u533a\u57df\u7684\u57fa\u56e0\u53d1\u751f\u7f3a\u5931\u6216\u529f\u80fd\u4e0d\u5168\u800c\u5f15\u8d77\u3002\u8fd9\u4e0e IGF2 \u7b49\u53c2\u4e0e\u751f\u957f\u53d1\u80b2\u7684\u57fa\u56e0\u5f02\u5e38\u76f8\u5173\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u7279\u5f81\u4e3b\u8981\u8868\u73b0\u4e3a\u5de8\u5927\u513f\u75c7\u3001\u5668\u5b98\u80a5\u5927\u3001\u8110\u759d\u4ee5\u53ca\u60a3\u80bf\u7624\u98ce\u9669\u589e\u9ad8\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e11\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff0811q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\uff08\u5982\u524d\u989d\u5bbd\u5927\u3001\u5916\u773c\u89d2\u4e0b\u659c\uff09\u3001\u51fa\u8840\u503e\u5411\u4ee5\u53ca\u5fc3\u810f\u5f02\u5e38\u7b49\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-11\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c11\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c11\" class=\"special-btn btn-toggle\">\n  <span>11\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>11\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u533a\u57df\u53d1\u751f\u91cd\u590d\uff0c\u5bfc\u81f4\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u5065\u5eb7\u548c\u53d1\u80b2\u9020\u6210\u5f71\u54cd\u3002<\/p>\n    \n   <p class=\"text-subtitle\">11q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e11\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff0811q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\uff08\u7279\u522b\u662f\u5fc3\u810f\u6216\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u5f02\u5e38\uff09\u4ee5\u53ca\u7279\u5f81\u6027\u9762\u5bb9\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">11p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e11\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0811p\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u8bed\u8a00\u53d1\u80b2\u843d\u540e\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002\u6839\u636e\u91cd\u590d\u57fa\u56e0\u7684\u4e0d\u540c\uff0c\u75c7\u72b6\u7684\u8303\u56f4\u4e5f\u5b58\u5728\u5dee\u5f02\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>12\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-12\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c12\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c12\" class=\"special-btn btn-toggle\">\n  <span>12\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u7279\u5b9a\u533a\u57df\u4e22\u5931\uff0c\u5bfc\u81f4\u591a\u79cd\u57fa\u56e0\u7f3a\u4e4f\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5f15\u53d1\u7279\u5b9a\u7684\u75c7\u72b6\u300212\u53f7\u67d3\u8272\u4f53\u7f3a\u5931\u6240\u5e26\u6765\u7684\u5f71\u54cd\uff0c\u4e3b\u8981\u53d6\u51b3\u4e8e\u53d1\u751f\u7f3a\u5931\u7684\u533a\u57df\u4ee5\u53ca\u8be5\u533a\u57df\u5185\u6240\u5305\u542b\u7684\u57fa\u56e0\u3002<\/p>\n    \n   <ul>\n   <li><strong>\u75c7\u72b6\u793a\u4f8b\uff1a<\/strong> \u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\uff08\u5982\u5fc3\u810f\u6216\u80be\u810f\u7578\u5f62\u7b49\uff09\u3001\u8eab\u6750\u77ee\u5c0f\u4ee5\u53ca\u808c\u5f20\u529b\u4f4e\u4e0b\u7b49\u3002\n   <br>\u4e34\u5e8a\u4e0a\u6709\u62a5\u544a\u6307\u51fa\uff0c\u50cf<strong>12q15\u7f3a\u5931\u7efc\u5408\u5f81<\/strong>\u8fd9\u6837\u7279\u5b9a\u533a\u57df\uff0812\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff09\u53d1\u751f\u7f3a\u5931\u65f6\uff0c\u4f1a\u8868\u73b0\u51fa\u7279\u5f02\u6027\u7684\u75c7\u72b6\u3002<\/li>\n   <li><strong>\u8bca\u65ad\uff1a<\/strong> \u7f3a\u5931\u5f02\u5e38\u53ef\u901a\u8fc7\u67d3\u8272\u4f53\u68c0\u6d4b\uff08\u5982 FISH \u6216 CGH \u82af\u7247\/\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u7b49\uff09\u6765\u8fdb\u884c\u786e\u8bca\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">\u4e3b\u8981\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>12q\u7f3a\u5931\u7efc\u5408\u5f81\uff1a<\/strong> \u630712\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u7684\u60c5\u51b5\u3002\u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u6027\u9762\u5bb9\u4ee5\u53ca\u5fc3\u810f\u5f02\u5e38\u7b49\u3002<\/li>\n   <li><strong>12p\u7f3a\u5931\u7efc\u5408\u5f81\uff1a<\/strong> \u630712\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u7684\u60c5\u51b5\u3002\u8fd9\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u80b2\u8fdf\u7f13\u548c\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-12\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c12\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c12\" class=\"special-btn btn-toggle\">\n  <span>12\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <ul>\n   <li><strong>\u5f71\u54cd\u8303\u56f4\uff1a<\/strong> \u90e8\u5206\u91cd\u590d\u662f\u6307\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u6bd4\u6b63\u5e38\u6570\u91cf\u589e\u591a\u7684\u72b6\u6001\uff0c\u8fd9\u53ef\u80fd\u4f1a\u5bfc\u81f4\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">\u4e3b\u8981\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>12q\u91cd\u590d\u7efc\u5408\u5f81\uff1a<\/strong> 12\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d\u65f6\uff0c\u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u751f\u957f\u53d1\u80b2\u969c\u788d\u4ee5\u53ca\u7279\u5f81\u6027\u9762\u5bb9\u7b49\u3002<\/li>\n   <li><strong>12p\u91cd\u590d\u7efc\u5408\u5f81\uff1a<\/strong> \u77ed\u81c2\u53d1\u751f\u91cd\u590d\u65f6\uff0c\u4e5f\u53ef\u80fd\u4f1a\u51fa\u73b0\u7c7b\u4f3c\u7684\u75c7\u72b6\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n  <p class=\"jisseki mincho\">NIPT\u68c0\u6d4b\u6848\u4f8b<span class=\"big\">75,000<span>\u4ef6\u4ee5\u4e0a<\/span><\/span><\/p>\n  <p class=\"res-btn\">\u67e5\u770b\u7a7a\u4f59\u65f6\u95f4\u5e76\u9884\u7ea6<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n<p class=\"jisseki font-s gothic\">NIPT\u68c0\u6d4b\u6848\u4f8b<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span>\u4ef6<\/p>\n<p class=\"res font-s gothic\">\u70b9\u6b64\u9884\u7ea6\u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-zh-hans.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n\n<h3>13\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-13\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c13\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c13\" class=\"special-btn btn-toggle\">\n  <span>13\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>13\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u57fa\u56e0\u65e0\u6cd5\u53d1\u6325\u6b63\u5e38\u529f\u80fd\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u53d1\u80b2\u548c\u5065\u5eb7\u9020\u6210\u5f71\u54cd\u3002<\/p>\n    \n   <ul>\n   <li><strong>13q\u7f3a\u5931\u7efc\u5408\u5f81\uff1a<\/strong> \u7531\u4e8e13\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u90e8\u5206\u7f3a\u5931\u800c\u5f15\u8d77\u3002\u5177\u4f53\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5b9a\u7684\u9762\u90e8\u7578\u5f62\uff08\u5982\u5c0f\u773c\u7578\u5f62\u3001\u4f4e\u9f3b\u6881\u7b49\uff09\u3001\u6307\/\u8dbe\u7532\u53d1\u80b2\u4e0d\u826f\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002<\/li>\n   <li><strong>\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\uff08Retinoblastoma\uff09\uff1a<\/strong> \u4f4d\u4e8e13\u53f7\u67d3\u8272\u4f53q14\u533a\u57df\u7684 RB1 \u57fa\u56e0\u53d1\u751f\u7f3a\u5931\uff0c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u751f\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\uff0c\u8fd9 liquid \u662f\u4e00\u79cd\u513f\u7ae5\u671f\u5e38\u89c1\u7684\u773c\u90e8\u6076\u6027\u80bf\u7624\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-13\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c13\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c13\" class=\"special-btn btn-toggle\">\n  <span>13\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n  <p><strong>13\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u5305\u542b\u4e86\u591a\u4f59\u7684\u9057\u4f20\u4fe1\u606f\uff0c\u5bfc\u81f4\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5f15\u53d1\u5065\u5eb7\u6216\u53d1\u80b2\u65b9\u9762\u7684\u5f02\u5e38\u3002<\/p>\n\n   <ul>\n   <li><strong>\u91cd\u590d\u7efc\u5408\u5f81\uff1a<\/strong> 13\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d\u4e34\u5e8a\u4e0a\u975e\u5e38\u7f55\u89c1\uff0c\u53ef\u80fd\u4f1a\u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u4ee5\u53ca\u5934\u9762\u90e8\u5f62\u6001\u5f02\u5e38\uff08\u4f8b\u5982\u524d\u989d\u5bbd\u5927\u3001\u5c0f\u988c\u7578\u5f62\u7b49\uff09\u3002\u6839\u636e\u91cd\u590d\u533a\u57df\u7684\u4e0d\u540c\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\u5b58\u5728\u5dee\u5f02\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>14\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-14\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c14\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c14\" class=\"special-btn btn-toggle\">\n  <span>14\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>14\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u8be5\u533a\u57df\u5185\u7684\u57fa\u56e0\u7f3a\u4e4f\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n    \n   <ul>\n   <li>\n   <strong>\u75c7\u72b6\u793a\u4f8b\uff1a<\/strong>\n    <ul class=\"\">\n      <li>\u667a\u529b\u969c\u788d\u6216\u53d1\u80b2\u8fdf\u7f13<\/li>\n      <li>\u7279\u5b9a\u7684\u9762\u90e8\u5f62\u6001\u5f02\u5e38\uff08\u9762\u5bb9\u6539\u53d8\u6216\u9aa8\u9abc\u5f02\u5e38\uff09<\/li>\n      <li>\u5fc3\u810f\u6216\u80be\u810f\u7578\u5f62<\/li>\n      <li>\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u514d\u75ab\u7f3a\u9677\u7b49\u75c7\u72b6\u7684\u62a5\u544a\u3002<\/li>\n    <\/ul>\n   <\/li>\n   <li><strong>14q\u7f3a\u5931\u7efc\u5408\u5f81\uff1a<\/strong> \u7279\u522b\u662f14\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u7f3a\u5931\u7684\u60c5\u51b5\u8f83\u4e3a\u4eba\u719f\u77e5\uff0c\u53ef\u80fd\u4f1a\u4f34\u968f\u751f\u957f\u53d1\u80b2\u969c\u788d\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u53d1\u80b2\u8fdf\u7f13\uff0c\u751a\u81f3\u766b\u75eb\u7b49\u795e\u7ecf\u7cfb\u7edf\u75c7\u72b6\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-14\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c14\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c14\" class=\"special-btn btn-toggle\">\n  <span>14\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>14\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u5b58\u5728\u8fc7\u591a\u7684\u9057\u4f20\u7269\u8d28\uff0c\u5bfc\u81f4\u5f02\u5e38\u7684\u57fa\u56e0\u8868\u8fbe\uff0c\u4ece\u800c\u5bf9\u5065\u5eb7\u548c\u53d1\u80b2\u9020\u6210\u5f71\u54cd\u3002\u6839\u636e\u91cd\u590d\u533a\u57df\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\u4e0d\u540c\uff0c\u4f1a\u51fa\u73b0\u4e0d\u540c\u7684\u75c7\u72b6\u3002<\/p>\n    \n   <ul>\n   <li>\n   <strong>\u75c7\u72b6\u793a\u4f8b\uff1a<\/strong>\n    <ul class=\"\">\n      <li>\u667a\u529b\u969c\u788d\u6216\u5b66\u4e60\u969c\u788d<\/li>\n      <li>\u53d1\u80b2\u4e0d\u826f\u6216\u8eab\u6750\u77ee\u5c0f<\/li>\n      <li>\u773c\u90e8\u6216\u5fc3\u810f\u5f02\u5e38<\/li>\n      <li>\u9885\u9762\u90e8\u5f02\u5e38\u6216\u624b\u8db3\u5f02\u5e38<\/li>\n    <\/ul>\n   <\/li>\n   <li><strong>\u91cd\u590d\u7efc\u5408\u5f81\uff1a<\/strong> \u5df2\u77e5\u5f5314\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u6216\u77ed\u81c2\u7684\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d\u65f6\uff0c\u4f1a\u5bfc\u81f4\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u6216\u7279\u5b9a\u7684\u5f62\u6001\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>15\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-15\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c15\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c15\" class=\"special-btn btn-toggle\">\n  <span>15\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>15\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u4e34\u5e8a\u4e0a\u5df2\u77e5\u7684\u76f8\u5173\u9057\u4f20\u6027\u75be\u75c5\u5982\u4e0b\uff1a<\/p>\n    \n   <p class=\"text-subtitle\">\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u5f81\uff08PWS \/ \u5c0f\u80d6\u5a01\u5229\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e15\u53f7\u67d3\u8272\u4f53\u7236\u6e90\u6027\u7684\u4e00\u90e8\u5206\uff08\u901a\u5e38\u4e3a15q11-q13\u533a\u57df\uff09\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002\u5c11\u6570\u60c5\u51b5\u4e0b\u662f\u7531\u57fa\u56e0\u529f\u80fd\u4e0d\u5168\u6216\u7f3a\u5931\u6240\u81f4\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u7279\u5f81\u8868\u73b0\u4e3a\u65b0\u751f\u513f\u671f\u7684\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u56e0\u98df\u6b32\u5f02\u5e38\u5bfc\u81f4\u7684\u80a5\u80d6\u3001\u667a\u529b\u969c\u788d\u4ee5\u53ca\u6027\u817a\u529f\u80fd\u51cf\u9000\u3002\u6b64\u5916\uff0c\u6709\u65f6\u4e5f\u4f1a\u4f34\u968f\u884c\u4e3a\u95ee\u9898\u6216\u7761\u7720\u969c\u788d\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">\u5b89\u683c\u66fc\u7efc\u5408\u5f81\uff08AS \/ \u5929\u4f7f\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u867d\u7136\u4e0e\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u5f81\u53d1\u751f\u7f3a\u5931\u7684\u533a\u57df\u76f8\u540c\uff0815q11-q13\uff09\uff0c\u4f46\u8be5\u75be\u75c5\u662f\u7531\u4e8e\u6bcd\u6e90\u6027\u67d3\u8272\u4f53\u53d1\u751f\u7f3a\u5931\u6240\u81f4\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e3b\u8981\u7279\u5f81\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u8fd0\u52a8\u534f\u8c03\u969c\u788d\u3001\u9891\u7e41\u53d1\u7b11\u6216\u5174\u594b\u4ee5\u53ca\u766b\u75eb\u53d1\u4f5c\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-15\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c15\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c15\" class=\"special-btn btn-toggle\">\n  <span>15\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>15\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u5b58\u5728\u591a\u4f59\u7684\u57fa\u56e0\uff0c\u4ece\u800c\u5bf9\u53d1\u80b2\u548c\u5065\u5eb7\u9020\u6210\u5f71\u54cd\u3002\u5176\u4e2d\u6700\u5e7f\u4e3a\u4eba\u77e5\u7684\u662f<strong>15q11-q13\u91cd\u590d\u7efc\u5408\u5f81<\/strong>\u3002<\/p>\n    \n   <p class=\"text-subtitle\">15q11-q13\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e15\u53f7\u67d3\u8272\u4f53\u8fd9\u4e00\u7279\u5b9a\u533a\u57df\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u667a\u529b\u969c\u788d\u3001\u60ca\u53a5\u53d1\u4f5c\u4ee5\u53ca\u884c\u4e3a\u95ee\u9898\u3002\u7814\u7a76\u8868\u660e\uff0c15q11-q13\u91cd\u590d\u5728\u6bcd\u6e90\u6027\u6765\u6e90\u65f6\uff0c\u5176\u75c7\u72b6\u5f80\u5f80\u8868\u73b0\u5f97\u66f4\u52a0\u4e25\u91cd\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>16\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-16\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c16\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c16\" class=\"special-btn btn-toggle\">\n  <span>16\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>16\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u57fa\u56e0\u7f3a\u4e4f\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u7279\u5b9a\u7684\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">16p11.2\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e16\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0816p11.2\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u7279\u5f81\u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u60a3\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u7684\u98ce\u9669\u8f83\u9ad8\uff0c\u6b64\u5916\u4e5f\u5e38\u89c1\u8fd0\u52a8\u529f\u80fd\u548c\u8bed\u8a00\u53d1\u80b2\u843d\u540e\u3001\u5b66\u4e60\u969c\u788d\u7b49\u3002\u540c\u65f6\uff0c\u90e8\u5206\u60a3\u8005\u4e5f\u53ef\u80fd\u4f1a\u51fa\u73b0\u4f53\u91cd\u589e\u52a0\u6216\u80a5\u80d6\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">16q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u5f5316\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u65f6\uff0c\u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u6216\u53d1\u80b2\u8fdf\u7f13\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u8eab\u4f53\u67d0\u4e9b\u90e8\u4f4d\u7684\u53d1\u80b2\u5f02\u5e38\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u884c\u4e3a\u95ee\u9898\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-16\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c16\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c16\" class=\"special-btn btn-toggle\">\n  <span>16\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>16\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u5b58\u5728\u591a\u4f59\u7684\u57fa\u56e0\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u5065\u5eb7\u548c\u53d1\u80b2\u9020\u6210\u5f71\u54cd\u3002<\/p>\n   <p class=\"text-subtitle\">16p11.2\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u5f53\u540c\u4e00\u533a\u57df\uff0816p11.2\uff09\u53d1\u751f\u91cd\u590d\u65f6\uff0c\u4fbf\u4f1a\u5f15\u53d1\u76f8\u5e94\u7684\u5f02\u5e38\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u7279\u5f81\u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u503e\u5411\u3001\u4f53\u91cd\u51cf\u8f7b\u6216\u4f53\u91cd\u504f\u4f4e\u3002\u5728\u884c\u4e3a\u65b9\u9762\uff0c\u53ef\u80fd\u4f1a\u8868\u73b0\u51fa\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u6216\u5b66\u4e60\u969c\u788d\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>17\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-17\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c17\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c17\" class=\"special-btn btn-toggle\">\n  <span>17\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>17\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u5bfc\u81f4\u5173\u952e\u57fa\u56e0\u7f3a\u4e4f\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u53d1\u80b2\u548c\u5065\u5eb7\u9020\u6210\u5f71\u54cd\u3002<\/p>\n    \n   <p class=\"text-subtitle\">17p13.3\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u7c73\u52d2-\u8fea\u514b\u7efc\u5408\u5f81 \/ Miller-Dieker\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e17\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u7684 13.3 \u533a\u57df\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u7279\u5f81\u8868\u73b0\u4e3a\u91cd\u5ea6\u667a\u529b\u969c\u788d\u3001\u766b\u75eb\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u9885\u9762\u90e8\u5f02\u5e38\u3002\u7531\u4e8e\u8be5\u5f02\u5e38\u4f1a\u5f71\u54cd\u5927\u8111\u53d1\u80b2\uff0c\u53ef\u80fd\u4f1a\u5f15\u53d1\u88ab\u79f0\u4e3a\u201c\u5e73\u8111\u75c7\uff08\u6ed1\u8111\u75c7\uff09\u201d\u7684\u5927\u8111\u7ed3\u6784\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">\u53f2\u5bc6\u65af-\u9a6c\u5409\u5229\u7efc\u5408\u5f81\uff08Smith-Magenis\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e17p11.2\u533a\u57df\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u884c\u4e3a\u5f02\u5e38\uff08\u5982\u81ea\u4f24\u884c\u4e3a\uff09\u3001\u7761\u7720\u969c\u788d\u4ee5\u53ca\u7279\u5f81\u6027\u9762\u5bb9\u7b49\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-17\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c17\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c17\" class=\"special-btn btn-toggle\">\n  <span>17\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>17\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u5bfc\u81f4\u5065\u5eb7\u6216\u53d1\u80b2\u65b9\u9762\u7684\u5f02\u5e38\u3002<\/p>\n\n   <p class=\"text-subtitle\">17p11.2\u91cd\u590d\u7efc\u5408\u5f81\uff08\u6ce2\u6258\u8328\u57fa-\u5362\u666e\u65af\u57fa\u7efc\u5408\u5f81 \/ Potocki-Lupski\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e17\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0817p11.2\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u5b66\u4e60\u969c\u788d\u3001\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u5fc3\u810f\u5f02\u5e38\u7b49\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>18\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-18\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c18\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c18\" class=\"special-btn btn-toggle\">\n  <span>18\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>18\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u5bfc\u81f4\u57fa\u56e0\u4e22\u5931\uff0c\u4ece\u800c\u5f15\u53d1\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n    \n   <p class=\"text-subtitle\">18q\u7f3a\u5931\u7efc\u5408\u5f81\uff0818q-\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e18\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u6027\u9762\u90e8\u7578\u5f62\u3001\u8db3\u90e8\u7578\u5f62\uff08\u5982\u6241\u5e73\u8db3\u7b49\uff09\u3001\u514d\u75ab\u7f3a\u9677\u3001\u8bed\u8a00\u53d1\u80b2\u843d\u540e\u4ee5\u53ca\u884c\u4e3a\u969c\u788d\u3002\u6b64\u5916\uff0c\u90e8\u5206\u60a3\u8005\u5728\u9752\u6625\u671f\u540e\u53ef\u80fd\u4f1a\u51fa\u73b0\u6fc0\u7d20\u5f02\u5e38\u95ee\u9898\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\"> 18p\u7f3a\u5931\u7efc\u5408\u5f81\uff0818p-\u7efc\u5408\u5f81\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e18\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u3001\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u3002\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u3001\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u7b49\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-18\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c18\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c18\" class=\"special-btn btn-toggle\">\n  <span>18\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>18\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u533a\u57df\u53d1\u751f\u91cd\u590d\uff0c\u4ece\u800c\u5bfc\u81f4\u5065\u5eb7\u6216\u53d1\u80b2\u65b9\u9762\u7684\u5f02\u5e38\u3002<\/p>\n\n   <p class=\"text-subtitle\">18q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e18\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u8eab\u4f53\u6216\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u4ee5\u53ca\u766b\u75eb\u3002\u6b64\u5916\uff0c\u5fc3\u810f\u6216\u80be\u810f\u4e5f\u53ef\u80fd\u4f1a\u51fa\u73b0\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">18p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e18\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u53d1\u751f\u90e8\u5206\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u9885\u9aa8\u6216\u9762\u90e8\u5f62\u6001\u5f02\u5e38\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u4ee5\u53ca\u884c\u4e3a\u95ee\u9898\u7b49\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>19\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-19\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c19\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c19\" class=\"special-btn btn-toggle\">\n  <span>19\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>19\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u4e22\u5931\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u9057\u4f20\u6027\u75be\u75c5\u6216\u53d1\u80b2\u969c\u788d\u3002<\/p>\n    \n   <p class=\"text-subtitle\">19p13\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e19\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u7684 13 \u533a\u57df\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\uff08\u7279\u522b\u662f\u5934\u9762\u90e8\u5f62\u6001\u5f02\u5e38\uff09\u3002\u6709\u65f6\u4e5f\u53ef\u80fd\u4f34\u968f\u766b\u75eb\u6216\u884c\u4e3a\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\"> 19q13\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e19\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u7684 13 \u533a\u57df\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u4ee5\u53ca\u766b\u75eb\u7b49\u3002\u6b64\u5916\u3001\u4e5f\u6709\u4f34\u968f\u751f\u957f\u53d1\u80b2\u969c\u788d\u6216\u514d\u75ab\u7cfb\u7edf\u5f02\u5e38\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-19\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c19\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c19\" class=\"special-btn btn-toggle\">\n  <span>19\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>19\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u53d1\u80b2\u548c\u5065\u5eb7\u9020\u6210\u5f71\u54cd\u3002<\/p>\n\n   <p class=\"text-subtitle\">19p13\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e19\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u7684\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u884c\u4e3a\u5f02\u5e38\uff0c\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u808c\u5f20\u529b\u4f4e\u4e0b\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\uff08\u5982\u9762\u90e8\u6216\u624b\u8db3\u7578\u5f62\uff09\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">19q13\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e19\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684 13 \u533a\u57df\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u5b66\u4e60\u969c\u788d\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u503e\u5411\u3001\u60ca\u53a5\u53d1\u4f5c\u4ee5\u53ca\u5fc3\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n  <p class=\"jisseki mincho\">NIPT\u68c0\u6d4b\u6848\u4f8b<span class=\"big\">75,000<span>\u4ef6\u4ee5\u4e0a<\/span><\/span><\/p>\n  <p class=\"res-btn\">\u67e5\u770b\u7a7a\u4f59\u65f6\u95f4\u5e76\u9884\u7ea6<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\n<p class=\"jisseki font-s gothic\">NIPT\u68c0\u6d4b\u6848\u4f8b<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span>\u4ef6<\/p>\n<p class=\"res font-s gothic\">\u70b9\u6b64\u9884\u7ea6\u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/20th-anniversary\/\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-zh-hans.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n\n<h3>20\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-20\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c20\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c20\" class=\"special-btn btn-toggle\">\n  <span>20\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>20\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u7f3a\u4e4f\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u5404\u79cd\u75c7\u72b6\u306e\u663e\u73b0\u3002\u4e34\u5e8a\u4e0a\u7279\u522b\u662f\u6709\u5173\u4e8e20\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u6216\u77ed\u81c2\uff08p\uff09\u53d1\u751f\u7f3a\u5931\u7684\u62a5\u544a\u3002<\/p>\n    \n   <p class=\"text-subtitle\">20p\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e20\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u4ee5\u53ca\u9762\u90e8\u6216\u624b\u8db3\u7578\u5f62\u7b49\u3002\u6b64\u5916\u3001\u4e5f\u6709\u4f34\u968f\u884c\u4e3a\u95ee\u9898\u6216\u5b66\u4e60\u969c\u788d\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\"> 20q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e20\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u8fd0\u52a8\u529f\u80fd\u53d1\u80b2\u843d\u540e\u4ee5\u53ca\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u3002\u6b64\u5916\u3001\u4e5f\u6709\u4f34\u968f\u514d\u75ab\u7cfb\u7edf\u6216\u5185\u5206\u6ccc\u7cfb\u7edf\u5f02\u5e38\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-20\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c20\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c20\" class=\"special-btn btn-toggle\">\n  <span>20\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>20\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u5b58\u5728\u591a\u4f59\u7684\u57fa\u56e0\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5f15\u53d1\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n\n   <p class=\"text-subtitle\">20p\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e20\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u90e8\u5f62\u6001\u5f02\u5e38\uff0c\u6709\u65f6\u4e5f\u53ef\u80fd\u4f34\u968f\u884c\u4e3a\u95ee\u9898\u6216\u5fc3\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">20q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e20\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u5b66\u4e60\u969c\u788d\u3001\u884c\u4e3a\u95ee\u9898\uff0c\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>21\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-21\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c21\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c21\" class=\"special-btn btn-toggle\">\n  <span>21\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>21\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u8be5\u533a\u57df\u5185\u5305\u542b\u7684\u5173\u952e\u57fa\u56e0\u7f3a\u4e4f\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u53d1\u80b2\u548c\u5065\u5eb7\u9020\u6210\u5f71\u97ff\u3002<\/p>\n    \n   <p class=\"text-subtitle\">21q\u7f3a\u5931\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e21\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u5fc3\u810f\u6216\u6d88\u5316\u7cfb\u7edf\u5f02\u5e38\u4ee5\u53ca\u7279\u5f81\u6027\u9762\u5bb9\u7b49\u3002<\/li>\n   <li><strong>\u53cd\u5510\u6c0f\u7efc\u5408\u5f81\uff1a<\/strong> \u5728\u90e8\u5206\u75c5\u4f8b\u4e2d\uff0c\u7531\u4e8e21\u53f7\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\uff0c\u53ef\u80fd\u4f1a\u8868\u73b0\u51fa\u867d\u7136\u5177\u6709\u7c7b\u4f3c\u4e8e21-\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09\u306e\u7279\u5f81\uff0c\u4f46\u4e34\u5e8a\u75c7\u72b6\u5374\u5b8c\u5168\u76f8\u53cd\u7684\u60c5\u6cc1\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-21\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c21\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c21\" class=\"special-btn btn-toggle\">\n  <span>21\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>21\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u5f15\u53d1\u7279\u5b9a\u7684\u7efc\u5408\u5f81\u6216\u5065\u5eb7\u95ee\u9898\u3002<\/p>\n\n   <p class=\"text-subtitle\">21q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e21\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u90e8\u5206\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u5b66\u4e60\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u5fc3\u810f\u95ee\u9898\u4ee5\u53ca\u60ca\u53a5\u53d1\u4f5c\u3002\u6839\u636e\u91cd\u590d\u533a\u57df\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\u4e0d\u540c\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\u5b58\u5728\u5dee\u5f02\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">20q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e20\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u5b66\u4e60\u969c\u788d\u3001\u884c\u4e3a\u95ee\u9898\uff0c\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>22\u53f7\u67d3\u8272\u4f53<\/h3>\n\n\n\n<div class=\"text-group\" id=\"pd-c-22\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c22\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c22\" class=\"special-btn btn-toggle\">\n  <span>22\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>22\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931<\/strong>\u662f\u6307\u7531\u4e8e\u57fa\u56e0\u53d1\u751f\u7f3a\u5931\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u53d1\u80b2\u969c\u788d\u6216\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u3002\u5176\u4e2d\uff0c\u4ee5 22q11.2 \u7f3a\u5931\u6700\u4e3a\u5e38\u89c1\u3002<\/p>\n    \n  \n   <p class=\"text-subtitle\">\u732b\u773c\u7efc\u5408\u5f81\uff08Cat Eye Syndrome\uff09<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e22\u53f7\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\uff08\u9760\u8fd1\u77ed\u81c2\u4e0e\u957f\u81c2\u4ea4\u754c\u5904\u7684\u533a\u57df\uff09\u53d1\u751f\u7f3a\u5931\u6216\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u4e34\u5e8a\u62a5\u544a\u7684\u75c7\u72b6\u5305\u62ec\u773c\u90e8\u7279\u5f81\u6027\u5f02\u5e38\uff08\u5982\u77b3\u5b54\u5782\u76f4\u88c2\/\u732b\u773c\u6837\u6539\u53d8\uff09\u3001\u809b\u95e8\u6216\u5c3f\u8def\u7578\u5f62\u3001\u5fc3\u810f\u5f02\u5e38\u4ee5\u53ca\u53d1\u80b2\u8fdf\u7f13\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"sd-c-22\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-sd-c22\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-sd-c22\" class=\"special-btn btn-toggle\">\n  <span>22\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>22\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d<\/strong>\u662f\u6307\u7531\u4e8e\u7279\u5b9a\u7684\u57fa\u56e0\u5f02\u5e38\u589e\u591a\uff0c\u4ece\u800c\u53ef\u80fd\u4f1a\u5bf9\u53d1\u80b2\u548c\u5065\u5eb7\u9020\u6210\u5f71\u54cd\u3002<\/p>\n\n   <p class=\"text-subtitle\">22q11.2\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e22q11.2\u533a\u57df\u53d1\u751f\u91cd\u590d\uff0c\u5bfc\u81f4\u57fa\u56e0\u591a\u4f59\u5b58\u5728\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u53ef\u80fd\u4f1a\u51fa\u73b0\u53d1\u80b2\u8fdf\u7f13\u3001\u5b66\u4e60\u969c\u788d\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u884c\u4e3a\u5f02\u5e38\u4ee5\u53ca\u5fc3\u810f\u5f02\u5e38\u3002<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">20q\u91cd\u590d\u7efc\u5408\u5f81<\/p>\n   <ul>\n   <li><strong>\u75c5\u56e0\uff1a<\/strong> \u7531\u4e8e20\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u53d1\u751f\u91cd\u590d\u800c\u5f15\u8d77\u3002<\/li>\n   <li><strong>\u75c7\u72b6\uff1a<\/strong> \u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u5b66\u4e60\u969c\u788d\u3001\u884c\u4e3a\u95ee\u9898\uff0c\u4e34\u5e8a\u4e0a\u4e5f\u6709\u4f34\u968f\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\u7684\u62a5\u544a\u3002<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div>\n<h3>2 p deletion<\/h3>\n<div class=\"ac-title\">\n  <h4>2p25.1\u201325.3\u5bb6\u65cf\u6027\u5012\u4f4d\u91cd\u590d\/\u7f3a\u5931\u4e3a\u5012\u4f4d\u91cd\u590d\u7684\u8d77\u6e90\u63d0\u4f9b\u65b0\u7ebf\u7d22<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u6211\u4eec\u7814\u7a76\u4e86\u4e00\u4e2a\u5bb6\u65cf\uff0c\u5176\u4e2d\u4e24\u540d\u513f\u7ae5\u53ca\u5176\u7236\u4eb2\u5747\u5206\u79bb\u51fa\u76f8\u540c\u7684 10 Mb 2p25.3-p25.1 \u5012\u4f4d\u91cd\u590d\uff0c\u4e14\u6240\u6709\u4eba\u5747\u8868\u73b0\u51fa\u4e09\u4f53\u8868\u578b\u3002\u7531\u4e8e\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u5206\u6790\u8bc1\u5b9e\u8be5\u91cd\u590d\u662f\u5012\u4f4d\u7684\uff0c\u56e0\u6b64\u63a8\u6d4b\u6839\u636e\u7ecf\u5178\u7684\u201c\u5012\u4f4d\u91cd\u590d\u4f34\u7f3a\u5931\uff08inv dup del\uff09\u201d\u578b\u91cd\u6392\uff0c\u53ef\u80fd\u8fd8\u5b58\u5728\u8fde\u7eed\u7684\u672b\u7aef\u7f3a\u5931\u3002\u867d\u7136\u4f7f\u7528 2p \u548c 2q \u4e9a\u7aef\u7c92\u63a2\u9488\u8fdb\u884c\u7684 FISH \u7ed3\u679c\u663e\u793a\u6b63\u5e38\uff0c\u4f46\u5206\u8fa8\u7387\u4e3a 100 kb \u7684\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08aCGH\uff09\u663e\u793a\uff0c\u9664\u91cd\u590d\u5916\u8fd8\u5b58\u5728\u4e00\u4e2a 273 kb \u7684\u7f3a\u5931\u3002\u867d\u7136\u4ec5\u68c0\u6d4b\u5230\u4e00\u4e2a\u5177\u6709\u6b63\u5e38 Log \u503c\u7684\u6709\u6548\u70b9\uff0c\u4f46\u9ad8\u5206\u8fa8\u7387 aCGH \u5206\u6790\uff08\u7ea6 20 kb\uff09\u8fdb\u4e00\u6b65\u63d0\u793a\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728\u5355\u62f7\u8d1d\u533a\u57df\u3002\u901a\u8fc7\u5b9e\u65f6\u8367\u5149\u5b9a\u91cf PCR \u548c\u65ad\u88c2\u70b9\u514b\u9686\u91cd\u65b0\u5b9a\u4e49\u4e86\u8be5\u91cd\u6392\u7684\u7cbe\u786e\u7ed3\u6784\uff0c\u8bc1\u5b9e\u4e86\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728 2680 bp \u7684\u5355\u62f7\u8d1d\u5e8f\u5217\uff0c\u5e76\u4e14\u6d89\u53ca\u53ef\u80fd\u5f62\u6210\u975e B\u578b DNA \u7ed3\u6784\u7684\u7b80\u5355\u91cd\u590d\u5e8f\u5217\u3002\u8be5\u91cd\u6392\u5e76\u975e\u7531\u8282\u6bb5\u91cd\u590d\u6216\u77ed\u53cd\u5411\u91cd\u590d\u5e8f\u5217\u4ecb\u5bfc\uff0c\u53cc\u94fe\u65ad\u88c2\u53ef\u80fd\u662f\u901a\u8fc7\u975e\u540c\u6e90\u672b\u7aef\u8fde\u63a5\u6216\u5fae\u540c\u6e90\u4ecb\u5bfc\u7684\u67d3\u8272\u4f53\u5185\u4fee\u590d\u6765\u5b8c\u6210\u7684\u3002\u8fd9\u4e9b\u6570\u636e\u5f3a\u8c03\u4e86\u4e00\u4e2a\u4e8b\u5b9e\uff0c\u5373\u4e0e\u5012\u4f4d\u91cd\u590d\u76f8\u5173\u7684\u4f34\u968f\u7f3a\u5931\u53d1\u751f\u9891\u7387\u6781\u53ef\u80fd\u8fdc\u9ad8\u4e8e\u4ec5\u9760\u7ecf\u5178\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u6240\u80fd\u8bc1\u5b9e\u7684\u9891\u7387\u3002\u672c\u6587\u8fd8\u5bf9\u4e09\u4f53\u53ca\u672b\u7aef 2p \u7f3a\u5931\u5bf9\u8868\u578b\u7684\u5f71\u54cd\u8fdb\u884c\u4e86\u8ba8\u8bba\u3002<\/p>\n  <a href=\"https:\/\/www.nature.com\/articles\/ejhg2008160\">https:\/\/www.nature.com\/articles\/ejhg2008160<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>\u4f34\u6709\u67d3\u8272\u4f53 2p25 \u91cd\u590d\u548c 2q37 \u7f3a\u5931\u60a3\u8005\u7684\u4e25\u91cd\u751f\u957f\u6fc0\u7d20\u7f3a\u4e4f\u75c7\u53ca\u5782\u4f53\u7578\u5f62<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d\u5728 4.8 \u5c81\u65f6\u786e\u8bca\u7684\u7537\u7ae5\u75c5\u4f8b\uff0c\u4ed6\u8868\u73b0\u51fa\u4e25\u91cd\u7684\u751f\u957f\u53d1\u80b2\u969c\u788d\u3001\u751f\u957f\u6fc0\u7d20\uff08GH\uff09\u7f3a\u4e4f\u75c7\u3001\u4f34\u6709\u666e\u904d\u8bed\u8a00\u969c\u788d\u7684\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u4ee5\u53ca\u72ec\u7279\u7684\u8868\u578b\u3002\u901a\u8fc7\u78c1\u5171\u632f\u6210\u50cf\uff08MRI\uff09\u5bf9\u4e0b\u4e18\u8111-\u5782\u4f53\u533a\u57df\u8fdb\u884c\u8bc4\u4f30\uff0c\u7ed3\u679c\u663e\u793a\u5176\u5782\u4f53\u53d1\u80b2\u4e0d\u826f\uff0c\u4f34\u6709\u5782\u4f53\u67c4\u65ad\u88c2\u548c\u5f02\u4f4d\u5782\u4f53\u540e\u53f6\uff0c\u8fd9\u4e9b\u88ab\u8ba4\u4e3a\u662f\u6c38\u4e45\u6027 GH \u7f3a\u4e4f\u75c7\u7684\u9884\u540e\u6807\u5fd7\u7269\u3002\u867d\u7136\u56e0\u80ce\u513f\u9888\u9879\u900f\u660e\u5c42\u589e\u539a\u800c\u8fdb\u884c\u7684\u4ea7\u524d\u67d3\u8272\u4f53\u5206\u6790\u663e\u793a\u7537\u80ce\u6838\u578b\u6b63\u5e38\uff0c\u4f46\u51fa\u751f\u540e\u7684\u9ad8\u5206\u8fa8\u67d3\u8272\u4f53\u663e\u5e26\u5206\u6790\u5f15\u8d77\u4e86\u5bf9 2q \u5f02\u5e38\u7684\u6000\u7591\u3002\u968f\u540e\uff0c\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08Array-CGH\uff09\u63ed\u793a\u4e86\u4e00\u79cd\u7531 2p25 \u91cd\u590d\u548c 2q37 \u7f3a\u5931\u7ec4\u6210\u7684\u65b0\u53d1\uff08de novo\uff09\u590d\u6742\u57fa\u56e0\u7ec4\u91cd\u6392\uff1aarr[hg19] 2p25.3p25.1(30,341-9,588,369)x3, 2q37.2q37.3(235,744,424-243,041,305)x1\u3002FISH \u5206\u6790\u663e\u793a\uff0c\u5f02\u5e38\u7684 2\u53f7\u67d3\u8272\u4f53\u6a21\u62df\u4e86\u4e00\u4e2a\u5012\u4f4d\u884d\u751f\u67d3\u8272\u4f53\uff0c\u5176\u91cd\u590d\u7684 2p \u533a\u57df\u4f4d\u4e8e 2q \u7684\u8fdc\u7aef\u3002\u636e\u6211\u4eec\u6240\u77e5\uff0c\u8fd9\u662f\u9996\u4f8b\u8fdc\u7aef 2p25 \u91cd\u590d\u548c 2q37 \u7f3a\u5931\u4ee5\u53ca\u5782\u4f53\u7578\u5f62\u5bfc\u81f4 GH \u7f3a\u4e4f\u75c7\u7684\u75c5\u4f8b\u3002<\/p>\n  <a href=\"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-41\">https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-41<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>\u4e00\u4f8b\u4f34\u6709 1.9 Mb \u672b\u7aef\u65b0\u53d1 2p25.3 \u7f3a\u5931\u5e76\u8868\u73b0\u51fa\u80a5\u80d6\u3001\u667a\u529b\u969c\u788d\u53ca\u591a\u52a8\u75c7\u65e9\u671f\u53d1\u4f5c\u7684\u65b0\u60a3\u8005<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u901a\u8fc7 aCGH \u5206\u6790\u68c0\u6d4b\u51fa\u7684 2p25.3 \u672b\u7aef\u548c\u95f4\u8d28\u7f3a\u5931\uff08\u5927\u5c0f &lt; 4 Mb\uff09\u5df2\u5728\u5927\u7ea6 18 \u540d\u60a3\u8005\u4e2d\u88ab\u62a5\u9053\uff0c\u4ed6\u4eec\u5177\u6709\u5171\u540c\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u4e3b\u8981\u8868\u73b0\u4e3a\u65e9\u53d1\u6027\u80a5\u80d6\/\u8d85\u91cd\uff0c\u5e76\u4f34\u6709\u667a\u529b\u969c\u788d\uff08ID\uff09\u548c\u884c\u4e3a\u95ee\u9898\u3002\u8fd9\u4e00\u89c2\u5bdf\u7ed3\u679c\u5f15\u53d1\u4e86\u4e00\u79cd\u5047\u8bbe\uff0c\u5373 2p \u4e9a\u7aef\u7c92\u7f3a\u5931\u5e94\u4e0e\u7efc\u5408\u5f81\u6027\u80a5\u80d6\u76f8\u5173\uff0c\u5e76\u4e14\u7531\u4e8e\u5728\u65e2\u5f80\u53d1\u8868\u7684\u6240\u6709\u75c5\u4f8b\u4e2d MYT1L \u57fa\u56e0\u5747\u53d1\u751f\u7f3a\u5931\u6216\u7834\u574f\uff0c\u56e0\u6b64\u8be5\u57fa\u56e0\u6210\u4e3a\u4e86\u5bfc\u81f4\u667a\u529b\u969c\u788d\u548c\u80a5\u80d6\u7684\u4e3b\u8981\u5019\u9009\u57fa\u56e0\u3002\n<\/p>\n<p>\u5728\u6b64\uff0c\u6211\u4eec\u4ecb\u7ecd\u4e86\u4e00\u540d 4.4 \u5c81\u5973\u7ae5\u7684\u75c5\u4f8b\uff0c\u5979\u5177\u6709\u7531\u65e9\u53d1\u6027\u80a5\u80d6\u3001\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u548c\u591a\u52a8\u75c7\u7ec4\u6210\u7684\u7279\u5f81\u6027\u8868\u578b\u3002\u901a\u8fc7 aCGH \u5206\u6790\u68c0\u6d4b\u51fa\u5176\u5b58\u5728\u4e00\u4e2a\u6e90\u81ea\u7236\u4eb2\u7684 1.9 Mb \u65b0\u53d1 2p25.3 \u672b\u7aef\u7f3a\u5931\u3002\u8be5\u7f3a\u5931\u7834\u574f\u4e86 MYT1L \u57fa\u56e0\uff0c\u5e76\u5305\u542b\u4e86\u5176\u4ed6 5 \u4e2a OMIM \u57fa\u56e0\uff1aACP1\u3001TMEM18\u3001SNTG2\u3001TPO \u548c PXDN\u3002<\/p>\n\n<p>\u672c\u6587\u8fd8\u8ba8\u8bba\u4e86\u5728\u4e0e 2p25.3 \u4e9a\u7aef\u7c92\u7f3a\u5931\u76f8\u5173\u7684\u7efc\u5408\u5f81\u6027\u80a5\u80d6\u7684\u53d1\u75c5\u673a\u5236\u4e2d\uff0c\u53ef\u80fd\u4e0e MYT1L \u6742\u5408\u7f3a\u5931\u5177\u6709\u534f\u540c\u529f\u80fd\u6548\u5e94\u7684\u5176\u4ed6\u5355\u500d\u4e0d\u8db3\u57fa\u56e0\u3002<\/p>\n  <a href=\"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-53\">https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-53<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>2q37\u7f3a\u5931\u7efc\u5408\u5f81\uff1a14\u540d\u65b0\u60a3\u8005\u4e2d\u5305\u542b\u8d85\u91cd\u3001\u77ed\u6307\u7578\u5f62\u53ca\u884c\u4e3a\u7279\u5f81\u7684\u4e34\u5e8a\u8c31\u7cfb\u6700\u65b0\u8fdb\u5c55<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>2q37 \u4f4d\u70b9\u662f\u6700\u5e38\u53d1\u751f\u7f3a\u5931\u7684\u4e9a\u7aef\u7c92\u533a\u57df\u4e4b\u4e00\u3002\u901a\u8fc7\u7aef\u7c92\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u5206\u6790\u5df2\u5728 100 \u591a\u540d\u60a3\u8005\u4e2d\u8bc1\u5b9e\u4e86\u6b64\u7c7b\u7f3a\u5931\uff0c\u800c\u5728\u8f83\u5c11\u60c5\u51b5\u4e0b\uff0c\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\uff08Array-CGH\uff09\u4e5f\u5f97\u5230\u4e86\u8bc1\u5b9e\u3002\u6b64\u524d\u5df2\u6709\u5173\u4e8e\u53ef\u8bc6\u522b\u7684\u201c2q37\u7f3a\u5931\u7efc\u5408\u5f81\u201d\u6216\u7c7b\u5965\u5c14\u5e03\u8d56\u7279\u9057\u4f20\u6027\u9aa8\u8425\u517b\u4e0d\u826f\u7efc\u5408\u5f81\u7684\u62a5\u9053\u3002\u4e3a\u4e86\u66f4\u597d\u5730\u5b9a\u4f4d\u7f3a\u5931\u5e76\u8fdb\u4e00\u6b65\u5b8c\u5584\u8be5\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u6211\u4eec\u4e0e\u6cd5\u56fd\u7ec6\u80de\u9057\u4f20\u5b66\u8005\u534f\u4f1a\u5408\u4f5c\uff0c\u6536\u96c6\u4e86 14 \u540d\u5177\u6709\u901a\u8fc7 FISH \u548c Array-CGH \u660e\u786e\u7684\u8fdc\u7aef\u6216\u95f4\u8d28\u6027 2q37 \u7f3a\u5931\u7684\u65b0\u578b\u667a\u529b\u969c\u788d\u60a3\u8005\u3002\u60a3\u8005\u8868\u73b0\u51fa\u9762\u90e8\u7578\u5f62\uff0813\/14\u4eba\uff09\u548c\u77ed\u6307\u7578\u5f62\uff0810\/14\u4eba\uff09\uff0c\u8fd9\u4e0e\u884c\u4e3a\u95ee\u9898\u3001\u81ea\u95ed\u75c7\u6216\u4e0d\u540c\u4e25\u91cd\u7a0b\u5ea6\u7684\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u4ee5\u53ca\u8d85\u91cd\u6216\u80a5\u80d6\u76f8\u5173\u3002\u8fd9 14 \u540d\u65b0\u60a3\u8005\u7684\u7f3a\u5931\u5927\u5c0f\u5728 2.6 \u81f3 8.8 Mb \u4e4b\u95f4\u3002\u5c3d\u7ba1 HDAC4 \u57fa\u56e0\u7684\u5173\u952e\u4f5c\u7528\u5df2\u88ab\u8bc1\u5b9e\uff0c\u4f46\u7f3a\u5931\u533a\u57df\u5185\u5176\u4ed6\u51e0\u79cd\u57fa\u56e0\u5bf9\u8868\u578b\u7684\u5f71\u54cd\u5c1a\u4e0d\u660e\u786e\u3002\u6211\u4eec\u8fdb\u4e00\u6b65\u7cbe\u786e\u4e86 2q37 \u7f3a\u5931\u7684\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u76f8\u5173\u6027\u3002\u4e3a\u6b64\uff0c\u6211\u4eec\u5229\u7528\u4e34\u5e8a\u6570\u636e\u3001\u6587\u732e\u590d\u4e60\u548c Manteia \u6570\u636e\u5e93\uff0c\u5bf9\u5bfc\u81f4\u9aa8\u9abc\u7578\u5f62\uff08\u9762\u90e8\u7578\u5f62\u548c\u77ed\u6307\u7578\u5f62\uff09\u3001\u8d85\u91cd\u3001\u884c\u4e3a\u95ee\u9898\u548c\u766b\u75eb\u53d1\u4f5c\u7684\u5019\u9009\u57fa\u56e0\u7684\u6700\u5c0f\u91cd\u53e0\u7f3a\u5931\u533a\u57df\u8fdb\u884c\u4e86\u7814\u7a76\u3002\u5728\u5df2\u9274\u5b9a\u7684\u5019\u9009\u57fa\u56e0\u4e2d\uff0c\u6211\u4eec\u5c06\u91cd\u70b9\u5173\u6ce8 PRLH\u3001PER2\u3001TWIST2\u3001CAPN10\u3001KIF1A\u3001FARP2\u3001D2HGDH \u548c PDCD1 \u7684\u4f5c\u7528\u3002<\/p>\n  <a href=\"https:\/\/www.nature.com\/articles\/ejhg2012230\">https:\/\/www.nature.com\/articles\/ejhg2012230<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>2p25.1\u201325.3\u5bb6\u65cf\u6027\u5012\u4f4d\u91cd\u590d\/\u7f3a\u5931\u4e3a\u5012\u4f4d\u91cd\u590d\u7684\u8d77\u6e90\u63d0\u4f9b\u65b0\u7ebf\u7d22<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u6211\u4eec\u7814\u7a76\u4e86\u4e00\u4e2a\u5bb6\u65cf\uff0c\u5176\u4e2d\u4e24\u540d\u513f\u7ae5\u53ca\u5176\u7236\u4eb2\u5747\u5206\u79bb\u51fa\u76f8\u540c\u7684 10 Mb 2p25.3-p25.1 \u5012\u4f4d\u91cd\u590d\uff0c\u4e14\u6240\u6709\u4eba\u5747\u8868\u73b0\u51fa\u4e09\u4f53\u8868\u578b\u3002\u7531\u4e8e FISH \u5206\u6790\u8bc1\u5b9e\u8be5\u91cd\u590d\u662f\u5012\u4f4d\u7684\uff0c\u56e0\u6b64\u63a8\u6d4b\u6839\u636e\u7ecf\u5178\u7684 inv dup del \u578b\u91cd\u6392\uff0c\u53ef\u80fd\u8fd8\u5b58\u5728\u8fde\u7eed\u7684\u672b\u7aef\u7f3a\u5931\u3002\u867d\u7136\u4f7f\u7528 2p \u548c 2q \u4e9a\u7aef\u7c92\u63a2\u9488\u8fdb\u884c\u7684 FISH \u7ed3\u679c\u663e\u793a\u6b63\u5e38\uff0c\u4f46\u5206\u8fa8\u7387\u4e3a 100 kb \u7684\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08aCGH\uff09\u663e\u793a\uff0c\u9664\u91cd\u590d\u5916\u8fd8\u5b58\u5728\u4e00\u4e2a 273 kb \u7684\u7f3a\u5931\u3002\u867d\u7136\u4ec5\u68c0\u6d4b\u5230\u4e00\u4e2a\u5177\u6709\u6b63\u5e38 Log \u503c\u7684\u6709\u6548\u70b9\uff0c\u4f46\u9ad8\u5206\u8fa8\u7387 aCGH \u5206\u6790\uff08\u7ea6 20 kb\uff09\u8fdb\u4e00\u6b65\u63d0\u793a\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728\u5355\u62f7\u8d1d\u533a\u57df\u3002\u901a\u8fc7\u5b9e\u65f6\u8367\u5149\u5b9a\u91cf PCR \u548c\u65ad\u88c2\u70b9\u514b\u9686\u91cd\u65b0\u5b9a\u4e49\u4e86\u8be5\u91cd\u6392\u7684\u7cbe\u786e\u7ed3\u6784\uff0c\u8bc1\u5b9e\u4e86\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728 2680 bp \u7684\u5355\u62f7\u8d1d\u5e8f\u5217\uff0c\u5e76\u4e14\u6d89\u53ca\u53ef\u80fd\u5f62\u6210\u975e B\u578b DNA \u7ed3\u6784\u7684\u7b80\u5355\u91cd\u590d\u5e8f\u5217\u3002\u8be5\u91cd\u6392\u5e76\u975e\u7531\u8282\u6bb5\u91cd\u590d\u6216\u77ed\u53cd\u5411\u91cd\u590d\u5e8f\u5217\u4ecb\u5bfc\uff0c\u53cc\u94fe\u65ad\u88c2\u53ef\u80fd\u662f\u901a\u8fc7\u975e\u540c\u6e90\u672b\u7aef\u8fde\u63a5\u6216\u5fae\u540c\u6e90\u4ecb\u5bfc\u7684\u67d3\u8272\u4f53\u5185\u4fee\u590d\u6765\u5b8c\u6210\u7684\u3002\u8fd9\u4e9b\u6570\u636e\u5f3a\u8c03\u4e86\u4e00\u4e2a\u4e8b\u5b9e\uff0c\u5373\u4e0e\u5012\u4f4d\u91cd\u590d\u76f8\u5173\u7684\u4f34\u968f\u7f3a\u5931\u53d1\u751f\u9891\u7387\u6781\u53ef\u80fd\u8fdc\u9ad8\u4e8e\u4ec5\u9760\u7ecf\u5178\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u6240\u80fd\u8bc1\u5b9e\u7684\u9891\u7387\u3002\u672c\u6587\u8fd8\u5bf9\u4e09\u4f53\u53ca\u672b\u7aef 2p \u7f3a\u5931\u5bf9\u8868\u578b\u7684\u5f71\u54cd\u8fdb\u884c\u4e86\u8ba8\u8bba\u3002<\/p>\n  <a href=\"https:\/\/www.nature.com\/articles\/ejhg2008160\">https:\/\/www.nature.com\/articles\/ejhg2008160<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>\u67d3\u8272\u4f53 2q \u672b\u7aef\u7f3a\u5931\uff1a6 \u4f8b\u65b0\u60a3\u8005\u62a5\u544a\u53ca 66 \u4f8b\u8868\u578b\u4e0e\u65ad\u88c2\u70b9\u76f8\u5173\u6027\u590d\u4e60<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4f8b\u65ad\u88c2\u70b9\u4f4d\u4e8e 2q36 \u7684 2\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u7f3a\u5931\u65b0\u60a3\u8005\uff0c\u4ee5\u53ca\u53e6\u5916 5 \u4f8b\u65ad\u88c2\u70b9\u4f4d\u4e8e 2q37 \u7684 2q \u672b\u7aef\u7f3a\u5931\u65b0\u60a3\u8005\u3002\u5355\u4fa7\u8188\u759d\u662f\u65ad\u88c2\u70b9\u4f4d\u4e8e 2q37.1 \u7684 1 \u540d\u60a3\u8005\u8eab\u4e0a\u7684\u65b0\u53d1\u73b0\u3002\u5c06\u8fd9\u4e9b\u60a3\u8005\u4e0e\u5148\u524d\u62a5\u9053\u7684 60 \u540d\u5177\u6709 2q \u672b\u7aef\u7f3a\u5931\u7684\u60a3\u8005\u8fdb\u884c\u6bd4\u8f83\u540e\u53d1\u73b0\uff0c\u7279\u5b9a\u7684\u8eab\u4f53\u7ed3\u6784\u5f02\u5e38\u4e0e\u65ad\u88c2\u70b9\u7684\u4f4d\u7f6e\u5927\u81f4\u76f8\u5173\u3002\u4f8b\u5982\uff0c\u5728\u65ad\u88c2\u70b9\u4f4d\u4e8e 2q37.3 \u6216\u5176\u8fd1\u7aef\u7684\u60a3\u8005\u4e2d\uff0c\u7ecf\u5e38\u89c2\u5bdf\u5230\u9762\u90e8\u7279\u5f81\u5f02\u5e38\uff08\u5982\u524d\u989d\u7a81\u51fa\u3001\u9f3b\u6881\u584c\u9677\u3001\u8033\u9f3b\u7578\u5f62\uff09\u3001\u8eab\u6750\u77ee\u5c0f\u4ee5\u53ca\u624b\u8db3\u77ed\u5c0f\u3002\u9a6c\u8e44\u80be\u548c\u80be\u6bcd\u7ec6\u80de\u7624\uff08Wilms\u80bf\u7624\uff09\u7684\u62a5\u9053\u4ec5\u9650\u4e8e\u65ad\u88c2\u70b9\u4f4d\u4e8e 2q37.1 \u7684\u60a3\u8005\uff0c\u800c\u7ed3\u6784\u6027\u8111\u5f02\u5e38\u548c\u6c14\u7ba1\u5f02\u5e38\u4ec5\u5728\u65ad\u88c2\u70b9\u4f4d\u4e8e 2q37.1 \u6216\u5176\u9644\u8fd1\u7684\u60a3\u8005\u4e2d\u6709\u6240\u62a5\u9053\u3002\u816d\u88c2\u4ec5\u5728\u65ad\u88c2\u70b9\u6700\u9760\u8fd1\u7aef\uff082q36 \u6216 2q35\uff09\u7684\u60a3\u8005\u4e2d\u88ab\u62a5\u544a\u3002\u5728\u8be5\u60a3\u8005\u7fa4\u4f53\u4e2d\uff0c\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u81ea\u95ed\u75c7\u6837\u884c\u4e3a\u548c\u808c\u5f20\u529b\u4f4e\u4e0b\u7b49\u795e\u7ecf\u7cfb\u7edf\u5f71\u54cd\u8f83\u4e3a\u5178\u578b\uff0c\u4f46\u4e25\u91cd\u7a0b\u5ea6\u5e76\u65e0\u660e\u786e\u7684\u65ad\u88c2\u70b9\u5206\u7ea7\u3002\u5bf9\u4e8e\u8868\u73b0\u51fa\u660e\u663e\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u5582\u517b\u56f0\u96be\u3001\u80c3\u98df\u9053\u53cd\u6d41\u548c\u53d1\u80b2\u8fdf\u7f13\u7684\u5a74\u513f\uff0c\u4ee5\u53ca\u8868\u73b0\u51fa\u53d1\u80b2\u8fdf\u7f13\u3001\u81ea\u95ed\u75c7\u884c\u4e3a\u548c\u672c\u6587\u6240\u8ff0\u7279\u5f81\u6027\u9762\u90e8\u53ca\u5916\u76ae\u7279\u5f81\u7684\u5e74\u957f\u513f\uff0c\u5e94\u8003\u8651\u7b2c2\u67d3\u8272\u4f53\u957f\u81c2\u672b\u7aef\u7f3a\u5931\u7684\u53ef\u80fd\u6027\u3002\u5c06\u4e34\u5e8a\u7279\u5f81\u5b9a\u4f4d\u5230\u7279\u5b9a\u7684\u65ad\u88c2\u70b9\u5e76\u5b8c\u5584\u9884\u6d4b\u503c\u53ef\u80fd\u6709\u52a9\u4e8e\u5f00\u5c55\u9057\u4f20\u54a8\u8be2\u3002<\/p>\n  <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30156\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30156<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>2q37.3\u65b0\u53d1\u4e9a\u7aef\u7c92\u7f3a\u5931\u7684aCGH\u5206\u6790\u53ca\u4e34\u5e8a\u8bf4\u660e<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d 13 \u5c81\u5c11\u5973\u7684\u75c5\u4f8b\uff0c\u5979\u6838\u578b\u6b63\u5e38\uff0c\u4f46\u5177\u6709\u901a\u8fc7\u4e9a\u7aef\u7c92 FISH \u5206\u6790\u68c0\u6d4b\u5230\u7684\u67d3\u8272\u4f53 2q \u65b0\u578b\u9690\u533f\u6027\u672b\u7aef\u7f3a\u5931\u3002\u4f7f\u7528 1 Mb \u5206\u8fa8\u7387\u7684 Spectral Chip 2600 (Spectral Genomics) \u8fdb\u884c aCGH \u5206\u6790\u540e\u8fdb\u4e00\u6b65\u8bc1\u5b9e\u4e86\u8be5\u7f3a\u5931\uff0c\u5e76\u663e\u793a\u53e6\u5916 4 \u4e2a\u76f8\u90bb\u514b\u9686\u4e5f\u53d1\u751f\u4e86\u7f3a\u5931\u3002aCGH \u672a\u68c0\u6d4b\u5230\u5176\u4ed6\u5f02\u5e38\u3002\u4e3a\u4e86\u5bf9\u7f3a\u5931\u8fdb\u884c\u8be6\u7ec6\u5236\u56fe\uff0c\u91c7\u7528\u4e86 8 \u4e2a BAC \u63a2\u9488\u8fdb\u884c\u4e86 FISH \u7814\u7a76\uff0c\u5e76\u8bc1\u5b9e\u4e86\u82af\u7247\u7ed3\u679c\u3002FISH \u5206\u6790\u663e\u793a\u7f3a\u5931\u65ad\u88c2\u70b9\u4f4d\u4e8e\u514b\u9686 RP11-84G18 \u548c RP11-83N2 \u4e4b\u95f4\uff08\u514b\u9686\u95f4\u7684\u7269\u7406\u8ddd\u79bb\u4e3a 0.36 Mb\uff09\uff0c\u5e76\u5ef6\u4f38\u81f3\u7aef\u7c92\u3002\u7f3a\u5931\u5927\u5c0f\u4f30\u8ba1\u7ea6\u4e3a 6.4 \u81f3 6.7 Mb\u3002\u4e34\u5e8a\u8868\u73b0\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u4e25\u91cd\u7684\u884c\u4e3a\u969c\u788d\u3001\u751f\u957f\u548c\u9752\u6625\u671f\u5ef6\u8fdf\u3001\u5148\u5929\u6027\u8f7b\u5ea6\u4f20\u5bfc\u6027\u8033\u804b\u3001\u751f\u957f\u6fc0\u7d20\u7f3a\u4e4f\u75c7\u3001\u4ee3\u507f\u6027\u7532\u72b6\u817a\u529f\u80fd\u51cf\u9000\u75c7\u3001\u9762\u90e8\u7578\u5f62\u3001\u5173\u8282\u8fc7\u5ea6\u6d3b\u52a8\u3001\u77ed\u4e2d\u8282\u6307\u9aa8\u3001\u5f02\u5e38\u76ae\u80a4\u7eb9\u7406\uff0c\u4ee5\u53ca\u65b0\u751f\u513f\u671f\u5589\u8f6f\u5316\u75c7\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u8110\u759d\u75c5\u53f2\u3002\u9664\u672a\u89c2\u5bdf\u5230\u5fc3\u8840\u7ba1\u3001\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u3001\u795e\u7ecf\u7cfb\u7edf\u5f02\u5e38\u53ca\u6e7f\u75b9\u5916\uff0c\u6211\u4eec\u60a3\u8005\u7684\u8868\u578b\u4e0e\u6587\u732e\u4e2d\u62a5\u9053\u7684\u8868\u578b\u9ad8\u5ea6\u4e00\u81f4\u3002\u7c7b\u4f3c\u75c5\u4f8b\u7684\u4e34\u5e8a\u548c\u5206\u5b50\u5b66\u75c7\u72b6\u62a5\u544a\u5c06\u6709\u52a9\u4e8e\u5b9e\u73b0\u7cbe\u786e\u7684\u8868\u578b\u4e0e\u57fa\u56e0\u578b\u5173\u8054\uff0c\u5e76\u53ef\u4e3a\u60a3\u8005\u5bb6\u5ead\u63d0\u4f9b\u6070\u5f53\u7684\u9057\u4f20\u54a8\u8be2\u3002<\/p>\n  <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721206001005?via%3Dihub\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721206001005?via%3Dihub<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>\u5229\u7528\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u53d8\u5f02\u82af\u7247\u6280\u672f\u4ea7\u524d\u8bca\u65ad\u4f34\u6709\u5e73\u8111\u75c7\u4ee5\u53ca 2p25.3 \u548c 2q37.3 \u5fae\u7f3a\u5931\u7684\u73af\u72b6 2\u53f7\u67d3\u8272\u4f53<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\u6211\u4eec\u5c55\u793a\u4e86\u4e00\u4f8b\u5229\u7528\u672a\u57f9\u517b\u7f8a\u6c34\u7ec6\u80de\u884c aCGH \u5206\u6790\uff0c\u5bf9\u4e00\u540d\u60a3\u6709\u5bab\u5185\u751f\u957f\u8fdf\u7f13\uff08IUGR\uff09\u3001\u5c0f\u5934\u7578\u5f62\u3001\u5e73\u8111\u75c7\u548c\u5916\u751f\u6b96\u5668\u6a21\u7cca\u7684\u80ce\u513f\u8fdb\u884c\u73af\u72b6 2\u53f7\u67d3\u8272\u4f53\uff08\u4f34\u6709 2p25.3 \u548c 2q37.3 \u5fae\u7f3a\u5931\uff09\u975e\u6574\u500d\u4f53\u5feb\u901f\u8bca\u65ad\u7684\u75c5\u4f8b\u3002\u5728\u6211\u4eec\u7684\u75c5\u4f8b\u4e2d\uff0c\u5e73\u8111\u75c7\u88ab\u6dfb\u52a0\u5230\u4e86\u4f34\u6709 2p25.3 \u548c 2q37.3 \u5fae\u7f3a\u5931\u7684\u73af\u72b6 2\u53f7\u67d3\u8272\u4f53\u7684\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\uff08CNS\uff09\u5f02\u5e38\u6e05\u5355\u4e2d\u3002\u672c\u75c5\u4f8b\u8fd8\u5bf9 2q37.3 \u533a\u57df HDAC4\u3001KIF1A\u3001PASK\u3001HDLBP\u3001FRAP2 \u548c D2HGDH \u57fa\u56e0\u5355\u500d\u4e0d\u8db3\uff0c\u4ee5\u53ca 2p25.3 \u533a\u57df MYT1L\u3001SNTG2 \u548c TPO \u57fa\u56e0\u5355\u500d\u4e0d\u8db3\u7684\u5f71\u54cd\u8fdb\u884c\u4e86\u63a2\u8ba8\u3002<\/p>\n  <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378111913001285?via%3Dihub\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378111913001285?via%3Dihub<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>\u4e00\u4f8b\u54e5\u4f26\u6bd4\u4e9a\u5927\u5934\u7578\u5f62\u60a3\u8005\u7684 2q37 \u7f3a\u5931\u7efc\u5408\u5f81\uff1a\u75c5\u4f8b\u62a5\u544a<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u80cc\u666f<br>\n2q37 \u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7531\u4e8e 2q37 \u67d3\u8272\u4f53\u6761\u5e26\u7f3a\u5931\u5f15\u8d77\u7684\u7f55\u89c1\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u75c5\uff0c\u53ef\u5bfc\u81f4\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u884c\u4e3a\u5f02\u5e38\u548c\u9885\u9762\u7578\u5f62\uff0c\u5168\u7403\u5df2\u62a5\u544a 115 \u591a\u4f8b\u60a3\u8005\u3002<br>\n\u75c5\u4f8b\u4ecb\u7ecd<br>\n\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d 3 \u5c81\u7684\u54e5\u4f26\u6bd4\u4e9a\u60a3\u8005\uff0c\u4ed6\u8868\u73b0\u51fa\u8bed\u8a00\u4ea4\u6d41\u5ef6\u8fdf\u3001\u8110\u759d\u3001\u9762\u90e8\u7578\u5f62\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u5927\u5934\u7578\u5f62\uff0c\u78c1\u5171\u632f\u6210\u50cf\u663e\u793a\u6b63\u5e38\u3002\u57fa\u4e8e\u5fae\u9635\u5217\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u6280\u672f\uff08aCGH\uff09\u663e\u793a\u5176\u5728 2q37.2 \u548c 2q37.3 \u533a\u57df\u5b58\u5728 5.9 Mb \u7684\u7f3a\u5931\uff0c\u5bfc\u81f4\u4e00\u6761 2\u53f7\u67d3\u8272\u4f53\u4e0a\u7684 60 \u4e2a\u86cb\u767d\u7f16\u7801\u57fa\u56e0\u4e22\u5931\uff0c\u4ece\u800c\u660e\u786e\u4e86\u8be5\u60a3\u8005 2q37 \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8bca\u65ad\u3002\u6b64\u524d\u8fdb\u884c\u7684\u6cbb\u7597\u5e72\u9884\u4e3a\u8110\u759d\u7684\u5916\u79d1\u624b\u672f\u77eb\u6b63\u3002<br>\n\u7ed3\u8bba<br>\n\u57fa\u56e0\u68c0\u6d4b\u4e0d\u4ec5\u662f\u8bca\u65ad\u4e34\u5e8a\u590d\u6742\u4e14\u4f4e\u9891\u75c7\u72b6\u7684\u91cd\u8981\u5de5\u5177\uff0c\u4e5f\u662f\u786e\u4fdd\u5f00\u5c55\u53ca\u65f6\u8bca\u65ad\u4ee5\u8fdb\u884c\u6070\u5f53\u76d1\u6d4b\u3001\u5e72\u9884\u548c\u9057\u4f20\u54a8\u8be2\u7684\u5173\u952e\u624b\u6bb5\u3002\u8be5\u75c5\u4f8b\u4e5f\u4e3a\u6269\u5c55 2q37 \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8868\u578b\u53ca\u9057\u4f20\u7279\u5f81\u63d0\u4f9b\u4e86\u5b9d\u8d35\u7684\u4fe1\u606f\u3002\n<\/p>\n  <a href=\"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-022-03620-8\">https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-022-03620-8<\/a>\n<\/div>\n<\/div>\n\n\n\n<div>\n  <h3>3 p deletion<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u4f34\u6709\u667a\u529b\u969c\u788d\u548c\u7578\u5f62\u7279\u5f81\u60a3\u8005\u7684 3p25.3 \u7f3a\u5931\u53ca\u5173\u952e\u533a\u57df\u7684\u8fdb\u4e00\u6b65\u754c\u5b9a<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n\u6700\u8fd1\uff0c\u5173\u4e8e3\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\u95f4\u8d28\u6027\u7f3a\u5931\u7684\u51e0\u7bc7\u62a5\u9053\uff0c\u6709\u52a9\u4e8e\u786e\u5b9a\u5bfc\u81f4 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5173\u952e\u533a\u57df\u3002\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d 11 \u5c81\u5973\u7ae5\u7684\u75c5\u4f8b\uff0c\u5979\u8868\u73b0\u51fa\u667a\u529b\u969c\u788d\u3001\u5f3a\u8feb\u503e\u5411\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u9762\u90e8\u7578\u5f62\uff0c\u901a\u8fc7\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08aCGH\uff09\u786e\u5b9a\u5176\u5b58\u5728\u4e00\u4e2a 684 kb \u7684\u95f4\u8d28\u6027 3p25.3 \u7f3a\u5931\u3002\u8be5\u7f3a\u5931\u4e0e\u6700\u8fd1\u62a5\u9053\u7684 3 \u4f8b\u95f4\u8d28\u6027 3p25 \u7f3a\u5931\u91cd\u53e0\u3002\u8fd9\u4e9b\u7f3a\u5931\u5171\u4eab\u4e00\u4e2a 124 kb \u7684\u91cd\u53e0\u533a\u57df\uff0c\u5176\u4e2d\u4ec5\u5305\u542b\u4e09\u4e2a RefSeq \u6ce8\u91ca\u57fa\u56e0\uff1aTHUMPD3\u3001SETD5 \u548c LOC440944\u3002\u672c\u4f8b\u60a3\u8005\u8868\u73b0\u51fa\u7684\u667a\u529b\u969c\u788d\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u9f3b\u6881\u51f9\u9677\u3001\u957f\u7259\u69fd\u5d74\u7b49\u8868\u578b\u4e0e\u65e2\u5f80\u62a5\u9053\u7684\u75c5\u4f8b\u76f8\u4f3c\uff0c\u4f46\u672a\u89c2\u5bdf\u5230\u5728\u66f4\u5927\u7f3a\u5931\u75c5\u4f8b\u4e2d\u62a5\u9053\u7684\u5fc3\u810f\u7f3a\u9677\u3001\u766b\u75eb\u53d1\u4f5c\u548c\u5c0f\u5934\u7578\u5f62\u3002\u56e0\u6b64\uff0c\u8be5\u75c5\u4f8b\u4e0d\u4ec5\u63d0\u793a\u4e86\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u7684\u76f8\u5173\u6027\uff0c\u540c\u65f6\u4e5f\u8fdb\u4e00\u6b65\u6df1\u5316\u4e86\u6211\u4eec\u5bf9 3p \u7f3a\u5931\u540e\u679c\u7684\u8ba4\u8bc6\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23613140\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/23613140\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u8fdc\u7aef 3p \u7f3a\u5931\u7efc\u5408\u5f81\uff1a3 \u4f8b\u5fae\u5c0f\u8fdc\u7aef\u7f3a\u5931\u7684\u8be6\u7ec6\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u4e0e\u4e34\u5e8a\u7279\u5f81\u53ca\u6587\u732e\u590d\u4e60<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n\u8fdc\u7aef\u578b 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u7279\u5f81\u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u751f\u957f\u505c\u6ede\u3001\u5c0f\u5934\u7578\u5f62\u3001\u77ed\u5934\u7578\u5f62\u3001\u773c\u7751\u4e0b\u5782\u3001\u957f\u4eba\u4e2d\u3001\u5c0f\u988c\u7578\u5f62\u548c\u4f4e\u4f4d\u8033\u3002\u6211\u4eec\u5229\u7528 FISH \u548c BAC \u6280\u672f\uff0c\u5728\u5206\u5b50\u6c34\u5e73\u4e0a\u5bf9 3 \u4f8b 3p \u7f3a\u5931\u8fdb\u884c\u4e86\u8be6\u7ec6\u5236\u56fe\u3002\u7f3a\u5931\u5927\u5c0f\u4e3a 10.2-11 Mb\uff0c\u5305\u542b\u4e86\u5305\u542b VHL \u57fa\u56e0\u5728\u5185\u7684 47-51 \u4e2a\u5df2\u77e5\u57fa\u56e0\u3002\u5176\u4e2d\u4e00\u4f8b\u7f3a\u5931\u4e3a\u95f4\u8d28\u6027\uff0c\u5176 3p \u7aef\u7c92\u4fdd\u6301\u5b8c\u6574\u3002\u5728\u65e2\u5f80\u53d1\u8868\u7684 9 \u4f8b 3p \u7f3a\u5931\u60a3\u8005\u4e2d\uff0c\u5df2\u901a\u8fc7\u5206\u5b50\u6216\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u5bf9\u7f3a\u5931\u5927\u5c0f\u8fdb\u884c\u4e86\u4f30\u8ba1\u3002\u672c\u6587\u5bf9\u8fd9\u4e9b\u75c5\u4f8b\u4e2d\u5305\u542b\u5173\u6ce8\u57fa\u56e0\u7684\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u8fdb\u884c\u4e86\u6bd4\u8f83\u548c\u8ba8\u8bba\u3002\u5728\u6211\u4eec\u5176\u4e2d\u4e00\u540d\u60a3\u8005\u4e2d\uff0c\u8fd1\u7aef\u65ad\u88c2\u70b9\u7684\u5b9a\u4f4d\u63d0\u793a\uff0c\u5148\u524d\u786e\u5b9a\u7684\u5fc3\u810f\u7f3a\u9677\u5173\u952e\u533a\u57df\u76ee\u524d\u53ef\u80fd\u5df2\u88ab\u7f29\u5c0f\u5230\u4ec5\u5305\u542b\u4e09\u4e2a\u5019\u9009\u57fa\u56e0\u3002\u6b64\u5916\uff0c\u53ef\u4ee5\u5f97\u51fa\u7ed3\u8bba\uff0c\u4ec5 ATP2B2 \u57fa\u56e0\u7684\u7f3a\u5931\u4e0d\u8db3\u4ee5\u5f15\u8d77 3p \u7f3a\u5931\u60a3\u8005\u4e2d\u5e38\u89c1\u7684\u542c\u89c9\u969c\u788d\u3002\u8fd9\u662f\u6587\u732e\u4e2d\u62a5\u9053\u7684\u7b2c 3 \u4f8b\u8fdc\u7aef 3p \u95f4\u8d28\u6027\u7f3a\u5931\u75c5\u4f8b\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/17696125\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/17696125\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u5177\u6709 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7279\u5f81\u60a3\u8005\u7684 3p25 \u5fae\u7f3a\u5931<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n\u7f55\u89c1\u7684 3p \u7f3a\u5931\u7efc\u5408\u5f81\u8868\u73b0\u4e3a\u75313\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u4e0d\u540c\u957f\u5ea6\u7f3a\u5931\u5f15\u8d77\u7684\u5f02\u5e38\u8c31\u7cfb\u3002\u867d\u7136\u8fd9\u4e9b\u7f3a\u5931\u5927\u591a\u6d89\u53ca 3p \u672b\u7aef\uff0c\u4f46\u95f4\u8d28\u6027\u7f3a\u5931\u4e5f\u53ef\u80fd\u5bfc\u81f4\u8be5\u7efc\u5408\u5f81\u7684\u7279\u5f81\u8868\u73b0\u3002\u6211\u4eec\u5728\u4e00\u540d\u8868\u73b0\u51fa\u8bb8\u591a\u5178\u578b 3p \u7f3a\u5931\u7279\u5f81\u7684\u60a3\u8005\u4e2d\u68c0\u6d4b\u5230\u4e00\u4e2a 643 kb \u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002\u8be5\u60a3\u8005\u4e0e\u65e2\u5f80\u62a5\u9053\u7684\u4e00\u4f8b\u5177\u6709 1.6 Mb \u95f4\u8d28\u6027\u7f3a\u5931\u7684\u60a3\u8005\u5177\u6709\u8bb8\u591a\u5171\u540c\u4e34\u5e8a\u8868\u73b0\uff0c\u5176\u4e2d\u5305\u62ec\u8ba4\u77e5\u969c\u788d\u3001\u766b\u75eb\u53d1\u4f5c\u548c\u5148\u5929\u6027\u5fc3\u810f\u7f3a\u9677\u7b49\u3002\u4e00\u4e2a\u5305\u542b 12 \u4e2a\u57fa\u56e0\u7684 518 kb \u91cd\u53e0\u533a\u57df\u88ab\u8bc1\u5b9e\u662f\u5bfc\u81f4\u5176\u4e2d\u4e00\u4e9b\u7279\u5f81\u7684\u5173\u952e\u533a\u57df\u3002\u672c\u6587\u8fd8\u5c31 CRELD1\u3001SRGAP3\u3001CAMK1\u3001TADA3 \u548c MTMR14 \u7b49\u51e0\u79cd\u57fa\u56e0\u7684\u63a8\u5b9a\u529f\u80fd\uff0c\u4e0e\u5176\u53c2\u4e0e 3p \u7f3a\u5931\u7efc\u5408\u5f81\u8868\u578b\u7684\u53ef\u80fd\u6027\u8fdb\u884c\u4e86\u8ba8\u8bba\u3002\u6211\u4eec\u63d0\u51fa\uff0c\u8fd9\u4e00 518 kb \u7684\u91cd\u53e0\u533a\u57df\u53ef\u80fd\u754c\u5b9a\u4e86\u5728\u53d1\u751f\u7f3a\u5931\u65f6\u5bfc\u81f4 3p \u7f3a\u5931\u7efc\u5408\u5f81\u8868\u578b\u7684\u5173\u952e\u533a\u57df\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22903836\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/22903836\/<\/a>\n  <\/div>\n  \n <div class=\"ac-title\">\n    <h4>\u4e24\u4e2a\u5bb6\u65cf\u4e2d\u7684\u672b\u7aef 3p \u7f3a\u5931\u2014\u2014\u5206\u5b50\u6838\u578b\u4e0e\u8868\u578b\u7684\u76f8\u5173\u6027<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n3p \u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7531\u4e8e 3p25-pter \u533a\u57df\u4e0d\u540c\u5927\u5c0f\u7f3a\u5931\u5f15\u8d77\u7684\u7f55\u89c1\u75be\u75c5\u3002\u5176\u7279\u5f81\u8868\u73b0\u4e3a\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u9762\u90e8\u7578\u5f62\u3001\u5c0f\u5934\u7578\u5f62\u548c\u773c\u7751\u4e0b\u5782\u3002\u5e26\u6709\u7f3a\u5931\u7684\u4e2a\u4f53\u7684\u8868\u578b\u4ece\u6b63\u5e38\u5230\u91cd\u5ea6\u4e0d\u7b49\u3002\u867d\u7136\u5927\u591a\u6570\u75c5\u4f8b\u4e3a\u65b0\u53d1\uff08de novo\uff09\uff0c\u4f46\u4e5f\u6709\u5c11\u6570\u5bb6\u65cf\u6027\u75c5\u4f8b\u7684\u62a5\u9053\u3002\u6211\u4eec\u63cf\u8ff0\u4e86\u4e24\u4e2a\u5177\u6709\u672b\u7aef 3p \u7f3a\u5931\u4e14\u4e34\u5e8a\u7279\u5f81\u6781\u5177\u591a\u6837\u6027\u7684\u5bb6\u65cf\u3002\u5728 A \u5bb6\u65cf\u4e2d\uff0c\u6bcd\u4eb2\u548c\u5973\u513f\u7684\u75c7\u72b6\u6781\u5176\u8f7b\u5fae\uff0c\u800c\u513f\u5b50\u5219\u8f83\u4e3a\u4e25\u91cd\u3002\u5728 B \u5bb6\u65cf\u4e2d\uff0c\u6bcd\u4eb2\u8868\u73b0\u6b63\u5e38\uff0c\u513f\u5b50\u53d7\u5230\u7d2f\u53ca\uff0c\u5e76\u5448\u73b0\u51fa\u5148\u524d 3p \u7f3a\u5931\u7efc\u5408\u5f81\u4e2d\u672a\u66fe\u62a5\u9053\u7684\u75c7\u72b6\u3002\u901a\u8fc7\u5168\u57fa\u56e0\u7ec4 SNP \u82af\u7247\u5206\u6790\u660e\u786e\u4e86\u7f3a\u5931\u7279\u5f81\uff0c\u5176\u5927\u5c0f\u5206\u522b\u4e3a 9 Mb \u548c 1.1 Mb\u3002<br>\n\u5bf9 CHL1\u3001CNTN4 \u548c CRBN \u57fa\u56e0\u7684\u5e8f\u5217\u5206\u6790\u672a\u53d1\u73b0\u53ef\u80fd\u89e3\u91ca\u5148\u8bc1\u8005\u66f4\u4e25\u91cd\u8868\u578b\u7684\u9690\u6027\u9690\u853d\u7b49\u4f4d\u57fa\u56e0\u3002\u5728 A \u5bb6\u65cf\u4e2d\uff0c9 Mb \u7684\u7f3a\u5931\u88ab\u8ba4\u4e3a\u662f\u5bfc\u81f4\u5148\u8bc1\u8005 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u539f\u56e0\uff0c\u4f46\u8be5\u5bb6\u65cf\u4e2d\u5176\u4ed6\u6210\u5458\u6781\u5176\u8f7b\u5fae\u7684\u8868\u578b\u4ecd\u7136\u65e0\u6cd5\u89e3\u91ca\u3002\u5728 B \u5bb6\u65cf\u4e2d\uff0c1.1 Mb \u7684\u672b\u7aef\u7f3a\u5931\u4ec5\u5305\u542b\u4e86 CHL1 \u57fa\u56e0\uff0c\u8fd9\u4e0d\u8db3\u4ee5\u5f15\u8d77 3p \u7f3a\u5931\u75c7\u72b6\u3002\u8fd9\u8868\u660e\uff0c\u76ee\u524d\u65e0\u6cd5\u4ec5\u57fa\u4e8e\u67d3\u8272\u4f53\u548c\/\u6216\u5168\u57fa\u56e0\u7ec4\u82af\u7247\u7684\u82af\u7247\u5206\u6790\u7ed3\u679c\u6765\u9884\u6d4b\u540e\u4ee3\u7684\u8868\u578b\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20101686\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/20101686\/<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>3p25.3 \u5e26\u7684\u7f3a\u5931\u5bf9 del(3p) \u7efc\u5408\u5f81\u7684\u663e\u73b0\u81f3\u5173\u91cd\u8981\uff1a3\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u8fdc\u7aef\u7f3a\u5931\u75c5\u4f8b\u4e2d\u7684\u6838\u578b-\u8868\u578b\u76f8\u5173\u6027<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u672c\u6587\u63cf\u8ff0\u4e86\u4e24\u4f8b3\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u8fdc\u7aef\u5355\u4f53\uff08Monosomy\uff09\u60a3\u8005\u3002\u4e00\u4f8b\u4e3a 46,XX,del(3)(p25.3)\uff0c\u53e6\u4e00\u4f8b\u4e3a 46,XX,r(3)(p26.1q29)\u3002\u524d\u4e00\u4f8b\u60a3\u8005\u8868\u73b0\u51fa 3p- \u7efc\u5408\u5f81\u7684\u7279\u5f81\u6027\u4e34\u5e8a\u75c7\u72b6\uff0c\u5305\u62ec\u751f\u957f\u53d1\u80b2\u969c\u788d\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u4f34\u6709\u6795\u9aa8\u6241\u5e73\u7684\u5c0f\u5934\u7578\u5f62\u3001\u4e09\u89d2\u8138\u3001\u773c\u7751\u88c2\u5c0f\u3001\u773c\u7751\u4e0b\u5782\u3001\u773c\u8ddd\u8fc7\u5bbd\u3001\u9f3b\u6881\u5bbd\u5e73\u3001\u957f\u7259\u69fd\u5d74\u3001\u5634\u89d2\u4e0b\u5782\u3001\u5c0f\u988c\u7578\u5f62\u3001\u660e\u663e\u7684\u4f4e\u4f4d\u53ca\u7578\u5f62\u8033\u3001\u624b\u6307\u5f02\u5e38\u4ee5\u53ca\u542c\u89c9\u969c\u788d\u3002\u540e\u4e00\u4f8b\u60a3\u8005\u5219\u8868\u73b0\u4e3a\u4f34\u6709\u667a\u529b\u4f4e\u4e0b\u3001\u751f\u957f\u505c\u6ede\u3001\u5c0f\u5934\u7578\u5f62\u7684\u975e\u7279\u5f02\u6027\u8868\u578b\u3002\u901a\u8fc7\u5c06\u672c\u7ec4\u75c5\u4f8b\u4e0e\u5148\u524d\u62a5\u9053\u7684 16 \u4f8b\u4f34\u6709 3p \u8fdc\u7aef\u7f3a\u5931\u7684\u75c5\u4f8b\u8fdb\u884c\u6838\u578b-\u8868\u578b\u6bd4\u8f83\uff0c\u63d0\u793a 3p25.3 \u5e26\u7684\u7f3a\u5931\u5bf9\u4e8e\u5f15\u53d1 del(3p) \u7efc\u5408\u5f81\u7684\u4e3b\u8981\u4e34\u5e8a\u75c7\u72b6\u81f3\u5173\u91cd\u8981\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/2178418\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/2178418\/<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>\u7531\u4e8e\u975e\u5e73\u8861\u6613\u4f4d\u5bfc\u81f4\u7684 3p25.3\u2192pter \u5355\u4f53\u5408\u5e76\u90e8\u5206 21\u53f7\u67d3\u8272\u4f53\u5355\u4f53\uff08q11.2\u2192q21.3\uff09\uff1a\u4e00\u4f8b\u8868\u73b0\u4e3a\u5f62\u6001\u5f02\u5e38\u548c\u53d1\u80b2\u8fdf\u7f13\u7684\u75c5\u4f8b<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n\u4ecb\u7ecd\u4e00\u4f8b 1 \u5c81 5 \u4e2a\u6708\u7684\u5973\u6027\u60a3\u8005\uff0c\u5979\u56e0\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u542c\u89c9\u969c\u788d\u548c\u5f62\u6001\u5f02\u5e38\u800c\u88ab\u8f6c\u8bca\u63a5\u53d7\u9057\u4f20\u5b66\u8bc4\u4f30\u3002\u60a3\u8005\u5408\u5e76\u5b58\u5728\u7531\u4e8e\u975e\u5e73\u8861\u65b0\u53d1\u6613\u4f4d\u5bfc\u81f4\u7684 21\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u5355\u4f53\uff08q11.2\u2192q21.3\uff09\u548c 3p \u67d3\u8272\u4f53\u672b\u7aef\u5355\u4f53\uff08p25.3\u2192pter\uff09\u3002\u6613\u4f4d\u901a\u8fc7\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u5f97\u5230\u8bc1\u5b9e\uff0c\u65ad\u88c2\u70b9\u901a\u8fc7\u9ad8\u5206\u8fa8\u7387\u82af\u7247\u8fdb\u884c\u4e86\u5b9a\u4f4d\u3002\u7ed3\u5408\u8fd9\u4e9b\u6280\u672f\u7684\u5206\u6790\u7ed3\u679c\uff0c\u6700\u7ec8\u6838\u578b\u88ab\u5b9a\u4e49\u4e3a 45,XX,der(3)t(3;21)(p25.3;q21.3)dn,-21.ish der(3)t(3;21)(RP11-329A2-,RP11-439F4-,RP11-95E11-,CTB-63H24 +)\u3002\u5fae\u536b\u661f DNA \u6807\u8bb0\u5206\u6790\u63d0\u793a\uff0c\u8be5\u67d3\u8272\u4f53\u91cd\u6392\u8d77\u6e90\u4e8e\u7236\u7cfb\u3002\u8fd9\u662f\u9996\u4f8b\u7531\u4e8e\u65b0\u53d1\u975e\u5e73\u8861\u6613\u4f4d\u5bfc\u81f4 3p \u672b\u7aef\u5355\u4f53\u5408\u5e76\u90e8\u5206\u8fd1\u7aef 21\u53f7\u67d3\u8272\u4f53\u5355\u4f53\u7684\u75c5\u4f8b\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0378111912010748\">https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0378111912010748<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>3p- \u7efc\u5408\u5f81\u754c\u5b9a\u4e86 3p25.3 \u4e0a\u7684\u8033\u804b\u57fa\u56e0\u5ea7<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u6ce2\u53ca\u67d3\u8272\u4f53 3p \u672b\u7aef\u7684\u7f3a\u5931\u4f1a\u5bfc\u81f4\u4e00\u7cfb\u5217\u88ab\u79f0\u4e3a 3p- \u7efc\u5408\u5f81\u7684\u7279\u5f81\u6027\u4e34\u5e8a\u75c7\u72b6\u3002\u5728\u90e8\u5206\uff08\u800c\u975e\u5168\u90e8\uff09\u75c5\u4f8b\u4e2d\u89c2\u5bdf\u5230\u4e86\u53cc\u4fa7\u611f\u97f3\u795e\u7ecf\u6027\u8033\u804b\uff08SNHL\uff09\uff0c\u63d0\u793a\u8fd9\u53ef\u80fd\u662f\u7531\u4e8e\u4f4d\u4e8e 3p25 \u5e26\u7684\u5173\u952e\u57fa\u56e0\u7f3a\u4e4f\u6240\u81f4\u3002\u622a\u81f3\u76ee\u524d\uff0c\u5c1a\u672a\u6709\u7814\u7a76\u8868\u660e\u8be5\u533a\u57df\u5b58\u5728\u5bfc\u81f4\u4eba\u7c7b\u8033\u804b\u7684\u57fa\u56e0\u5ea7\u3002\u7136\u800c\uff0cATP2B2 \u57fa\u56e0\u4f4d\u4e8e 3p25.3\uff0c\u5176\u5c0f\u9f20\u540c\u6e90\u57fa\u56e0\u7684\u5355\u500d\u4e0d\u8db3\u4f1a\u5bfc\u81f4\u540c\u6837\u4e25\u91cd\u7a0b\u5ea6\u7684 SNHL\u3002\u6211\u4eec\u5bf9\u6bd4\u4e86 7 \u4f8b\u5148\u524d\u672a\u62a5\u9053\u7684 3p- \u7efc\u5408\u5f81\u60a3\u8005\u7684\u542c\u529b\u68c0\u67e5\u7ed3\u679c\u4e0e\u7cbe\u7ec6\u7f3a\u5931\u5b9a\u4f4d\uff0c\u786e\u5b9a\u4e86 3p25.3 \u4e0a\u7684\u4e00\u4e2a 1.38 Mb \u533a\u57df\uff0c\u8be5\u533a\u57df\u7684\u7f3a\u5931\u4e0e\u4e2d\u5ea6\u81f3\u91cd\u5ea6\u53cc\u4fa7 SNHL \u76f8\u5173\u3002\u8fd9\u4e00\u65b0\u578b\u8033\u804b\u57fa\u56e0\u5ea7\u5305\u542b 18 \u4e2a\u57fa\u56e0\uff0c\u5176\u4e2d\u5305\u62ec\u7f16\u7801\u7ec6\u80de\u819c\u9499\u6cf5 PMCA2 \u7684 ATP2B2 \u57fa\u56e0\u3002\u4eba\u7c7b\u8033\u8717\u5207\u7247\u7684\u514d\u75ab\u7ec4\u7ec7\u5316\u5b66\u5206\u6790\u663e\u793a\uff0cPMCA2 \u5b58\u5728\u4e8e\u6bdb\u7ec6\u80de\u7684\u9759\u7ea4\u6bdb\u4e2d\uff0c\u63d0\u793a\u5176\u5728\u542c\u89c9\u7cfb\u7edf\u4e2d\u7684\u529f\u80fd\u5728\u4eba\u7c7b\u548c\u5c0f\u9f20\u4e4b\u95f4\u662f\u4fdd\u5b88\u7684\u3002\u867d\u7136\u8be5\u533a\u57df\u7684\u5176\u4ed6\u57fa\u56e0\u4ecd\u662f\u5019\u9009\u57fa\u56e0\uff0c\u4f46\u6211\u4eec\u5f97\u51fa\u7ed3\u8bba\uff0cATP2B2 \u7684\u5355\u500d\u4e0d\u8db3\u662f\u5bfc\u81f4 3p- \u7efc\u5408\u5f81\u4e2d SNHL \u6700\u53ef\u80fd\u7684\u539f\u56e0\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378595506003145\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378595506003145<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>\u95f4\u8d28\u6027\u8fd1\u7aef 3p \u7f3a\u5931\uff1a\u4e00\u79cd\u4e34\u5e8a\u516c\u8ba4\u7684\u7efc\u5408\u5f81<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u4f5c\u4e3a\u4f53\u8d28\u5f02\u5e38\u51fa\u73b0\u7684 3\u53f7\u67d3\u8272\u4f53\u8fd1\u7aef\u77ed\u8155\u95f4\u8d28\u6027\u7f3a\u5931\u5341\u5206\u7f55\u89c1\uff0c\u660e\u786e\u7684\u4e34\u5e8a\u8868\u578b\u5c1a\u672a\u5efa\u7acb\u3002\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d 30 \u4e2a\u6708\u5927\u7684\u5973\u7ae5\u75c5\u4f8b\uff0c\u5979\u4f34\u6709 3p12 \u67d3\u8272\u4f53\u95f4\u8d28\u6027\u7f3a\u5931\uff08del(3)(p12p12)\uff09\uff0c\u8868\u73b0\u51fa\u72ec\u7279\u7684\u9762\u5bb9\uff08\u65b9\u8138\u3001\u659c\u5934\u7578\u5f62\u3001\u524d\u989d\u5bbd\u5927\u3001\u9f3b\u6881\u5bbd\u3001\u957f\u7259\u69fd\u5d74\u3001\u4f4e\u4f4d\u8033\uff09\u4ee5\u53ca\u8fd0\u52a8\/\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u3002\u4e3a\u4e86\u8fdb\u4e00\u6b65\u660e\u786e\u8fd1\u7aef 3p \u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u6211\u4eec\u5c06\u8be5\u60a3\u513f\u7684\u4e34\u5e8a\u75c7\u72b6\u4e0e\u5148\u524d\u62a5\u9053\u7684\u5177\u6709\u76f8\u540c\u7f3a\u5931\u7684\u53e6\u5916 8 \u4f8b\u60a3\u8005\u8fdb\u884c\u4e86\u6bd4\u8f83\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S038776040600235X\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S038776040600235X<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>\u4e00\u4f8b\u4f34\u6709\u53d1\u80b2\u8fdf\u7f13\u548c\u5148\u5929\u6027\u5fc3\u810f\u7f3a\u9677\u60a3\u8005\u7684\u67d3\u8272\u4f53 r(3)(p25.3q29)\uff1a\u75c5\u4f8b\u62a5\u544a\u53ca\u6587\u732e\u590d\u4e60<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n\u73af\u72b6 3\u53f7\u67d3\u8272\u4f53\uff08r(3)\uff09\u662f\u4e00\u79cd\u6781\u7f55\u89c1\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\uff0c\u4e34\u5e8a\u8868\u73b0\u5177\u6709\u5f02\u8d28\u6027\uff0c\u6587\u732e\u4e2d\u4ec5\u62a5\u9053\u8fc7 12 \u4f8b\u3002\u5728\u6b64\uff0c\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d 1 \u5c81\u5973\u7ae5\u7684\u75c5\u4f8b\uff0c\u5979\u8868\u73b0\u51fa\u7279\u5f81\u6027\u9762\u5bb9\u3001\u53d1\u80b2\u8fdf\u7f13\u548c\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u5229\u7528 G \u663e\u5e26\u6838\u578b\u5206\u6790\u548c CytoScan 750K \u82af\u7247\u68c0\u6d4b\u51fa\u5176\u5b58\u5728\u4e00\u4e2a\u5927\u5c0f\u7ea6 10 Mb \u7684\u67d3\u8272\u4f53 3pterp25.3(61,891-9,979,408) \u7f3a\u5931\uff0c\u8be5\u7f3a\u5931\u5305\u542b 42 \u4e2a\u5df2\u77e5\u57fa\u56e0\u3002r(3) \u7684\u65ad\u88c2\u70b9\u88ab\u5b9a\u4f4d\u4e8e 3p25.3 \u548c 3q29\u3002\u6211\u4eec\u8fd8\u5bf9\u5df2\u62a5\u9053\u7684 r(3) \u53ca 3p \u7f3a\u5931\u7efc\u5408\u5f81\u75c5\u4f8b\u7684\u4e34\u5e8a\u7279\u5f81\u53ef\u7528\u4fe1\u606f\u8fdb\u884c\u4e86\u5206\u6790\uff0c\u4ee5\u63d0\u4f9b\u5173\u4e8e\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u76f8\u5173\u6027\u66f4\u5b9d\u8d35\u7684\u4fe1\u606f\u3002\u636e\u6211\u4eec\u6240\u77e5\uff0c\u8fd9\u662f r(3) \u75c5\u4f8b\u4e2d\u62a5\u9053\u7684\u6700\u5927\u68c0\u6d4b\u7247\u6bb5\uff0c\u4e5f\u662f\u7b2c\u4e8c\u9879\u5229\u7528\u5168\u57fa\u56e0\u7ec4\u5fae\u9635\u5217\u82af\u7247\u8fdb\u884c\u7684 r(3) \u7814\u7a76\u3002<\/p>\n    <a href=\"https:\/\/karger.com\/cgr\/article-abstract\/148\/1\/6\/62466\/Chromosome-r-3-p25-3q29-in-a-Patient-with?redirectedFrom=fulltext\">https:\/\/karger.com\/cgr\/article-abstract\/148\/1\/6\/62466\/Chromosome-r-3-p25-3q29-in-a-Patient-with?redirectedFrom=fulltext<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>3p \u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u5fae\u5999\u95f4\u8d28\u6027 del(3)(p25.3p26.2) \u7684\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>3p \u7f3a\u5931\u7efc\u5408\u5f81\u4f34\u6709\u7279\u5f81\u6027\u9762\u5bb9\u3001\u751f\u957f\u53d1\u80b2\u969c\u788d\u548c\u667a\u529b\u4f4e\u4e0b\u3002\u901a\u5e38\uff0c3p \u7f3a\u5931\u7efc\u5408\u5f81\u4e2a\u4f53\u5177\u6709 3p25 \u81f3 3pter \u7269\u8d28\u4e22\u5931\u7684\u672b\u7aef\u7f3a\u5931\u3002\u6b64\u6b21\uff0c\u6211\u4eec\u4ecb\u7ecd\u4e86\u4e00\u540d\u7b26\u5408 3p \u7f3a\u5931\u7efc\u5408\u5f81\u4e34\u5e8a\u8868\u578b\uff08\u773c\u7751\u4e0b\u5782\u3001\u5c0f\u5934\u7578\u5f62\u3001\u751f\u957f\u53d1\u80b2\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\uff09\u7684\u513f\u7ae5\uff0c\u5176\u5728 3\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u8fdc\u7aef\u5e26\u6709\u4e00\u4e2a\u5fae\u5999\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002\u901a\u8fc7\u91c7\u7528 3p \u4e9a\u7aef\u7c92\u63a2\u9488\u7684\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u6280\u672f\uff0c\u8bc1\u5b9e\u4e86 3\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u533a\u57df\u7684\u5b58\u5728\u3002\u4f7f\u7528\u5b9a\u4f4d\u4e8e\u67d3\u8272\u4f53\u533a\u57df 3p25-p26 \u7684\u5e8f\u5217\u6807\u7b7e\u4f4d\u70b9\uff08STS\uff09\u76f8\u8fde\u7684 BAC \u514b\u9686\uff0c\u901a\u8fc7 FISH \u660e\u786e\u4e86\u8be5\u95f4\u8d28\u6027\u7f3a\u5931\u7684\u7279\u5f81\u3002\u7ed3\u679c\u8868\u660e\uff0c\u7f3a\u5931\u4f4d\u4e8e STS \u6807\u8bb0 D3S3630 \u548c D3S1304 \u4e4b\u95f4\u7ea6 4.5 Mb \u7684\u533a\u57df\u5185\u3002\u8be5\u95f4\u8d28\u6027\u7f3a\u5931\u88ab\u5305\u542b\u5728\u5148\u524d\u62a5\u9053\u7684\u6240\u6709\u672b\u7aef 3p \u7f3a\u5931\u7efc\u5408\u5f81\u4e22\u5931\u7247\u6bb5\u4e2d\uff0c\u662f\u4e0e 3p \u7f3a\u5931\u7efc\u5408\u5f81\u76f8\u5173\u7684\u5df2\u62a5\u9053\u7684\u6700\u5c0f\u7f3a\u5931\u3002\u660e\u786e\u8be5\u7f3a\u5931\u7684\u7279\u5f81\u53ef\u80fd\u6709\u52a9\u4e8e\u9274\u5b9a\u5bf9\u751f\u957f\u548c\u53d1\u80b2\u81f3\u5173\u91cd\u8981\u7684\u57fa\u56e0\uff0c\u8fd9\u4e9b\u57fa\u56e0\u5728\u5448\u534a\u5408\u5b50\u72b6\u6001\u5b58\u5728\u65f6\u4f1a\u5bfc\u81f4 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8868\u578b\u663e\u73b0\u3002<\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10323\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10323<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u4e00\u4e2a\u8868\u73b0\u51fa\u67d3\u8272\u4f53 4p16 \u548c 3p26.3 \u91cd\u6392\u53ca\u591a\u6837\u5316\u4e34\u5e8a\u8868\u73b0\u7684\u5370\u5ea6\u5927\u5bb6\u65cf<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n\u80cc\u666f<br>\n\u67d3\u8272\u4f53 4p16.3 \u4e0a\u7684 Wolf-Hirschhorn \u7efc\u5408\u5f81\u5173\u952e\u533a\u57df\uff08WHSCR-2\uff09\u7f3a\u5931\u901a\u5e38\u4f1a\u5bfc\u81f4\u7279\u5f81\u6027\u9762\u5bb9\u3001\u4e0d\u540c\u7a0b\u5ea6\u7684\u667a\u529b\u969c\u788d\u3001\u766b\u75eb\u548c\u4ea7\u524d\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\uff0c\u800c\u76f8\u540c\u67d3\u8272\u4f53\u533a\u57df\u7684\u83b7\u5f97\uff08\u91cd\u590d\uff09\u5219\u4f1a\u5bfc\u81f4\u66f4\u591a\u6837\u5316\u7a0b\u5ea6\u7684\u667a\u529b\u969c\u788d\u548c\u7578\u5f62\u3002\u540c\u6837\uff0c3\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u7f3a\u5931\uff083p \u7f3a\u5931\u7efc\u5408\u5f81\uff09\u7684\u8868\u578b\u5404\u5f02\uff0c\u4ece\u8f7b\u5ea6\u81f3\u91cd\u5ea6\u667a\u529b\u969c\u788d\u3001\u5c0f\u5934\u7578\u5f62\u3001\u4e09\u89d2\u5934\u7578\u5f62\u5230\u72ec\u7279\u7684\u9762\u5bb9\u4e0d\u7b49\u3002<br>\n\u65b9\u6cd5\u4e0e\u7ed3\u679c<br>\n\u67d3\u8272\u4f53\u5fae\u9635\u5217\u82af\u7247\u5206\u6790\u548c\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u5206\u6790\u63ed\u793a\u4e86\u4e00\u79cd\u6d89\u53ca\u67d3\u8272\u4f53\u4e9a\u533a\u57df 4p16.1 \u548c 3p26.3 \u7684\u590d\u6742\u91cd\u6392\uff0c\u5176\u4e2d 3 \u4eba\u5e26\u6709 4p16.1 \u7f3a\u5931\u548c 3p26.3 \u91cd\u590d\uff0c7 \u4eba\u5e26\u6709 4p16.1 \u91cd\u590d\u548c 3p26.3 \u91cd\u590d\u30023 \u540d\u5e26\u6709 4p16.1 \u7f3a\u5931\u548c 3p26.3 \u5fae\u91cd\u590d\u7684\u60a3\u8005\u5747\u8868\u73b0\u51fa WHS \u7684\u5178\u578b\u4e34\u5e8a\u75c7\u72b6\u3002\u800c\u5728\u5e26\u6709 4p16.1 \u91cd\u590d\u548c 3p26.3 \u5fae\u91cd\u590d\u7684\u75c5\u4f8b\u4e2d\uff0c\u4e34\u5e8a\u8868\u73b0\u591a\u6837\uff0c\u4ece\u5178\u578b\u7684 3p \u5fae\u7f3a\u5931\u6216 4p \u90e8\u5206\u4e09\u4f53\u7efc\u5408\u5f81\uff0c\u5230\u4f34\u6709\u660e\u663e\u5f62\u6001\u5f02\u5e38\u7684\u66f4\u4e25\u91cd\u795e\u7ecf\u53d1\u80b2\u8fdf\u7f13\u4e0d\u7b49\u3002<br>\n\u7ed3\u8bba<br>\n\u6211\u4eec\u5c55\u793a\u4e86\u4e00\u4e2a\u5e26\u6709\u590d\u6742 t(4p;3p) \u67d3\u8272\u4f53\u91cd\u6392\u7684\u6700\u5927\u89c4\u6a21\u5bb6\u7cfb\uff0c\u5728\u53d7\u7d2f\u6210\u5458\u4e2d\u8868\u73b0\u51fa\u5305\u62ec Wolf-Hirschhorn \u7efc\u5408\u5f81\u30013p \u7f3a\u5931\u7efc\u5408\u5f81\u548c 4p \u91cd\u590d\u7efc\u5408\u5f81\u5728\u5185\u7684\u591a\u6837\u5316\u4e34\u5e8a\u7ed3\u5c40\u3002\n  <\/p>\n    <a href=\"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/s12881-015-0251-5\">https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/s12881-015-0251-5<\/a>\n  <\/div>\n<\/div>\n\n\n\n<div>\n  <h3>8 p deletions \/ duplications<\/h3>\n  <div class=\"ac-title\">\n    <h4>8p23.1 partial deletion<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  8p\u5355\u4f53\u662f\u4e00\u79cd\u4ee58\u53f7\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u53d1\u751f\u7f3a\u5931\u4e3a\u7279\u5f81\u7684\u7f55\u89c1\u67d3\u8272\u4f53\u5f02\u5e38\u3002\n\u636e\u4f30\u8ba1\uff0c8p23.1\u7f3a\u5931\u7684\u53d1\u751f\u7387\u5728\u7f8a\u6c34\u6837\u672c\u4e2d\u7ea6\u4e3a 1\/18542\uff0c\u5728\u51fa\u751f\u540e\u6837\u672c\u4e2d\u7ea6\u4e3a 1\/5072\u3002\n<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/10521848\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/10521848\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>8p23.1 partial duplication<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  8p23.1\u91cd\u590d\u7efc\u5408\u5f81\uff088p23.1 DS\uff09\u7684\u53d1\u751f\u9891\u7387\u8f83\u9ad8\uff0c\u4f30\u8ba1\u60a3\u75c5\u7387\u7ea6\u4e3a 1\/58000\u3002<\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37120\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37120<\/a>\n  <\/div>\n  \n  <\/div>\n\n\n\n<div>\n  <h3>9 p deletions<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u67d3\u8272\u4f53 9p \u8fdc\u7aef\u7f3a\u5931\u7684 10 \u4f8b\u60a3\u8005\u7684\u8be6\u7ec6\u7279\u5f81\u5206\u6790\u53ca\u4e34\u5e8a\u76f8\u5173\u6027<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>9p \u8fdc\u7aef\u7f3a\u5931\u901a\u5e38\u4e0e\u4e09\u89d2\u5934\u7578\u5f62\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u9762\u90e8\u7578\u5f62\u3001\u5fc3\u810f\u5f02\u5e38\u4ee5\u53ca\u751f\u6b96\u5668\u5f02\u5e38\u76f8\u5173\u3002\u65e2\u5f80\u7814\u7a76\u63d0\u793a\uff0c\u5728\u8ddd 9p \u7aef\u7c92 11.8 Mb \u81f3 16 Mb \u4e4b\u95f4\u7684 9p23 \u5e26\u5185\uff0c\u5b58\u5728\u4e00\u4e2a\u5bf9\u5171\u8bc6\u8868\u578b\u81f3\u5173\u91cd\u8981\u7684\u5173\u952e\u533a\u57df\u3002\u5728\u6211\u4eec\u7684\u75c5\u4f8b\u4e2d\uff0c\u6709 9 \u4eba\u5177\u6709\u4e0e 9p- \u7efc\u5408\u5f81\u76f8\u7b26\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u4f46\u4ed6\u4eec\u5e26\u6709\u7684\u672b\u7aef\u7f3a\u5931\u7247\u6bb5\u6bd4\u8bb8\u591a\u65e2\u5f80\u62a5\u9053\u7684\u75c5\u4f8b\u8981\u5c0f\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u6709 1 \u4eba\u7f3a\u4e4f 9p- \u8868\u578b\uff0c\u4ec5\u8868\u73b0\u51fa\u4e00\u4e2a\u9057\u4f20\u81ea\u6bcd\u4eb2\u7684 140 kb \u9690\u533f\u6027\u95f4\u8d28\u6027\u7aef\u7c92\u7f3a\u5931\u3002<br>\n  \u901a\u8fc7\u7ed3\u5408\u5e94\u7528\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u82af\u7247\u5206\u6790\uff0c\u660e\u786e\u4e86\u6bcf\u4f8b\u60a3\u8005\u7684\u7f3a\u5931\u5927\u5c0f\u3002<br>\n  \u7ed3\u679c<br>\n  \u5728\u5177\u6709\u4e34\u5e8a\u76f8\u5173\u8868\u578b\u7684\u60a3\u8005\u4e2d\uff0c\u7f3a\u5931\u5927\u5c0f\u4ece 800 kb \u5230 12.4 Mb \u4e0d\u7b49\u3002\u4e34\u5e8a\u8bc4\u4f30\u548c\u5bf9\u6bd4\u8868\u660e\uff0c\u7f3a\u5931\u5927\u5c0f\u5bf9\u60a3\u8005\u8eaf\u4f53\u7279\u5f81\u6240\u9020\u6210\u7684\u5dee\u5f02\u6781\u5c0f\u3002\u5728\u6240\u6709\u5177\u6709\u4e34\u5e8a\u76f8\u5173\u8868\u578b\u7684\u60a3\u8005\u4e2d\uff0c\u5747\u89c2\u5bdf\u5230\u4e86\u91cd\u5ea6\u7684\u8bed\u8a00\u969c\u788d\u3002<br>\n  \u7ed3\u8bba<br>\n  \u8868\u73b0\u51fa\u4e0e 9p- \u76f8\u7b26\u8868\u578b\u7684\u60a3\u8005\u4e4b\u95f4\u5171\u540c\u7684\u6700\u5c0f\u91cd\u53e0\u7f3a\u5931\u533a\u57df\uff0c\u662f\u4f4d\u4e8e 9pter \u4e14\u5927\u5c0f\u4e0d\u8db3 2 Mb \u7684\u533a\u57df\uff0c\u5176\u4e2d\u5305\u542b 6 \u4e2a\u5df2\u77e5\u57fa\u56e0\u3002\u8fd9\u4e9b\u57fa\u56e0\u53ef\u80fd\u53c2\u4e0e\u5bfc\u81f4\u4e86 9p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u4e00\u4e9b\u4e3b\u8981\u4e34\u5e8a\u7279\u5f81\u3002<\/p>\n    <a href=\"https:\/\/www.nature.com\/articles\/gim200890\">https:\/\/www.nature.com\/articles\/gim200890<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u56e0\u5bb6\u65cf\u6027\u5e73\u8861\u6613\u4f4d\u5bfc\u81f4\u540e\u4ee3\u5448\u73b0 9p \u7efc\u5408\u5f81\u8868\u578b<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u6211\u4eec\u62a5\u544a\u4e86\u4e24\u4f8b\u53d7\u5230\u7c7b\u4f3c\u7d2f\u53ca\u7684\u8868\u4eb2\u75c5\u4f8b\uff0c\u4ed6\u4eec\u662f\u4e00\u5bf9\u540c\u5375\u53cc\u80de\u80ce\u59d0\u59b9\u5404\u81ea\u7684\u5b69\u5b50\u3002\u8fd9\u4e24\u540d\u8868\u4eb2\u8868\u73b0\u51fa\u4e0e 9p \u7f3a\u5931\u7efc\u5408\u5f81\u76f8\u7b26\u7684\u8868\u578b\u7279\u5f81\uff08\u5305\u62ec\u4e09\u89d2\u5934\u7578\u5f62\u3001\u4e2d\u9762\u90e8\u53d1\u80b2\u4e0d\u826f\u3001\u4e0a\u659c\u773c\u88c2\u3001\u957f\u4eba\u4e2d\u7b49\u667a\u529b\u969c\u788d\u4ee5\u53ca\u6027\u53d1\u80b2\u5f02\u5e38\uff09\u3002\u6700\u521d\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u6d4b\u663e\u793a\uff0c\u5148\u8bc1\u8005\u53ca\u5176\u7236\u6bcd\u7684\u6838\u578b\u5747\u6b63\u5e38\u3002\u7136\u800c\uff0c\u901a\u8fc7\u591a\u91cd\u8fde\u63a5\u4f9d\u8d56\u6027\u63a2\u9488\u6269\u589e\u6280\u672f\uff08MLPA\uff09\u63ed\u793a\u4e86\u4ed6\u4eec\u5b58\u5728 1q \u672b\u7aef\u91cd\u590d\u548c 9p \u672b\u7aef\u7f3a\u5931\u3002\u5229\u7528\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u8fdb\u884c\u8fdb\u4e00\u6b65\u5206\u6790\u540e\uff0c\u5728\u6bcd\u4eb2\u4f53\u5185\u9274\u5b9a\u51fa\u4e86\u4e00\u79cd\u5bb6\u65cf\u6027\u5e73\u8861\u9690\u533f\u6027\u6613\u4f4d t(1;9)(q44;p23)\u3002\u8be5\u75c5\u4f8b\u5145\u5206\u5c55\u793a\u4e86\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u6280\u672f\u5728\u4e34\u5e8a\u9057\u4f20\u5b66\u8bca\u65ad\u4e2d\u7684\u91cd\u8981\u6027\u3002<\/p>\n    <a href=\"https:\/\/www.funpecrp.com.br\/gmr\/year2014\/vol13-2\/pdf\/gmr3782.pdf\">https:\/\/www.funpecrp.com.br\/gmr\/year2014\/vol13-2\/pdf\/gmr3782.pdf<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u67d3\u8272\u4f53 9p \u8fdc\u7aef\u7f3a\u5931\u7684 10 \u4f8b\u60a3\u8005\u7684\u8be6\u7ec6\u7279\u5f81\u53ca\u4e34\u5e8a\u76f8\u5173\u6027<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  \u76ee\u7684<br>\n  9p \u8fdc\u7aef\u7f3a\u5931\u901a\u5e38\u4e0e\u4e09\u89d2\u5934\u7578\u5f62\u3001\u667a\u529b\u4f4e\u4e0b\u3001\u9762\u90e8\u7578\u5f62\u3001\u5fc3\u810f\u5f02\u5e38\u4ee5\u53ca\u751f\u6b96\u5668\u5f02\u5e38\u76f8\u5173\u3002\u65e2\u5f80\u7814\u7a76\u63d0\u793a\uff0c\u5728\u8ddd 9p \u7aef\u7c92 11.8 Mb \u81f3 16 Mb \u4e4b\u95f4\u7684 9p23 \u5e26\u5185\uff0c\u5b58\u5728\u4e00\u4e2a\u5bf9\u5171\u8bc6\u8868\u578b\u81f3\u5173\u91cd\u8981\u7684\u5173\u952e\u533a\u57df\u3002\u5728\u6211\u4eec\u7684\u75c5\u4f8b\u4e2d\uff0c\u6709 9 \u4eba\u5177\u6709\u4e0e 9p- \u7efc\u5408\u5f81\u76f8\u7b26\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u4f46\u4ed6\u4eec\u5e26\u6709\u7684\u672b\u7aef\u7f3a\u5931\u7247\u6bb5\u6bd4\u8bb8\u591a\u65e2\u5f80\u62a5\u9053\u7684\u75c5\u4f8b\u8981\u5c0f\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u6709 1 \u4eba\u7f3a\u4e4f 9p- \u8868\u578b\uff0c\u4ec5\u8868\u73b0\u51fa\u4e00\u4e2a\u9057\u4f20\u81ea\u6bcd\u4eb2\u7684 140 kb \u95f4\u8d28\u6027\u7aef\u7c92\u7f3a\u5931\u3002<br>\n  \u65b9\u6cd5<br>\n  \u901a\u8fc7\u7ed3\u5408\u5e94\u7528\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u82af\u7247\u5206\u6790\uff0c\u660e\u786e\u4e86\u6bcf\u4f8b\u60a3\u8005\u7684\u7f3a\u5931\u5927\u5c0f\u3002<br>\n  \u7ed3\u679c<br>\n  \u5728\u5177\u6709\u4e34\u5e8a\u76f8\u5173\u8868\u578b\u7684\u60a3\u8005\u4e2d\uff0c\u7f3a\u5931\u5927\u5c0f\u4ece 800 kb \u5230 12.4 Mb \u4e0d\u7b49\u3002\u4e34\u5e8a\u8bc4\u4f30\u548c\u5bf9\u6bd4\u8868\u660e\uff0c\u7f3a\u5931\u5927\u5c0f\u5bf9\u60a3\u8005\u8eaf\u4f53\u7279\u5f81\u6240\u9020\u6210\u7684\u5dee\u5f02\u6781\u5c0f\u3002\u5728\u6240\u6709\u5177\u6709\u4e34\u5e8a\u76f8\u5173\u8868\u578b\u7684\u60a3\u8005\u4e2d\uff0c\u5747\u89c2\u5bdf\u5230\u4e86\u91cd\u5ea6\u7684\u8bed\u8a00\u969c\u788d\u3002<br>\n  \u7ed3\u8bba<br>\n  \u8868\u73b0\u51fa\u4e0e 9p- \u76f8\u7b26\u8868\u578b\u7684\u60a3\u8005\u4e4b\u95f4\u5171\u540c\u7684\u6700\u5c0f\u91cd\u53e0\u7f3a\u5931\u533a\u57df\uff0c\u662f\u4f4d\u4e8e 9pter \u4e14\u5927\u5c0f\u4e0d\u8db3 2 Mb \u7684\u533a\u57df\uff0c\u5176\u4e2d\u5305\u542b 6 \u4e2a\u5df2\u77e5\u57fa\u56e0\u3002\u8fd9\u4e9b\u57fa\u56e0\u53ef\u80fd\u53c2\u4e0e\u5bfc\u81f4\u4e86 9p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u4e00\u4e9b\u4e3b\u8981\u4e34\u5e8a\u7279\u5f81\u3002<\/p>\n    <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2953383\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2953383\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u4e00\u4f8b\u4f34\u6709\u67d3\u8272\u4f53 9p \u672b\u7aef 9 Mb \u7f3a\u5931\u7684\u60a3\u8005\uff1a\u4f34\u6709\u4e09\u89d2\u5934\u7578\u5f62\u7684 9p \u5355\u4f53\u7efc\u5408\u5f81\u5173\u952e\u533a\u57df\u7684\u7f29\u5c0f<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u672c\u6587\u63cf\u8ff0\u4e86\u4e00\u540d\u8868\u73b0\u51fa\u4e09\u89d2\u5934\u7578\u5f62\u548c\u6027\u9006\u8f6c\uff089p \u5355\u4f53\u7efc\u5408\u5f81\u5178\u578b\u75c7\u72b6\uff09\u7684\u60a3\u8005\u3002\u67d3\u8272\u4f53\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08aCGH\uff09\u63ed\u793a\u4e86\u5176\u5b58\u5728\u4e00\u4e2a\u65ad\u88c2\u70b9\u4f4d\u4e8e 9p23 \u7684\u7ea6 9 Mb \u7684 9p \u672b\u7aef\u7f3a\u5931\u3002\u6211\u4eec\u5bf9\u4f34\u6709\u4e09\u89d2\u5934\u7578\u5f62\u7684 9p \u5355\u4f53\u7efc\u5408\u5f81\u5df2\u62a5\u9053\u75c5\u4f8b\u4e2d\u76f8\u5173\u7684 9p \u7f3a\u5931\u7247\u6bb5\u8fdb\u884c\u4e86\u5bf9\u6bd4\u3002\u7136\u800c\uff0c\u5728\u4ec5\u5bf9\u6bd4\u4e0d\u542b\u5176\u4ed6\u67d3\u8272\u4f53\u7269\u8d28\u7684\u5355\u7eaf\u672b\u7aef\u7f3a\u5931\u6216\u95f4\u8d28\u7f3a\u5931\u75c5\u4f8b\u65f6\u8bc1\u5b9e\uff0c\u6240\u6709\u60a3\u8005\u5747\u7f3a\u5931\u4e86\u4ece D9S912 \u5230 RP11-439I6 \u4e4b\u95f4\u957f\u7ea6 1 Mb \u7684\u533a\u57df\u3002\u6211\u4eec\u63d0\u51fa\uff0c\u8fd9\u4e00 1 Mb \u7684\u533a\u57df\u53ef\u80fd\u662f\u5bfc\u81f4\u4f34\u6709\u4e09\u89d2\u5934\u7578\u5f62\u7684 9p \u5355\u4f53\u7efc\u5408\u5f81\u7684\u5173\u952e\u6838\u5fc3\u533a\u57df\u3002<\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2012.00362.x\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2012.00362.x<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>13 \u4f8b\u8377\u5170 9p \u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u7684\u4e34\u5e8a\u548c\u7ec6\u80de\u9057\u4f20\u5b66\u7279\u5f81\u5206\u6790\uff1a\u5171\u8bc6\u8868\u578b\u5173\u952e\u533a\u57df\u7684\u786e\u5b9a<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>9p \u7f3a\u5931\u7efc\u5408\u5f81\u662f\u7531\u4e8e9\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u4e00\u90e8\u5206\u53d1\u751f\u4f53\u8d28\u6027\u5355\u4f53\uff08Monosomy\uff09\u6240\u5f15\u8d77\u7684\u3002\u4e34\u5e8a\u4e0a\u4ee5\u9762\u90e8\u7578\u5f62\uff08\u4e09\u89d2\u5934\u7578\u5f62\u3001\u4e2d\u9762\u90e8\u53d1\u80b2\u4e0d\u826f\u3001\u957f\u4eba\u4e2d\uff09\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u667a\u529b\u4f4e\u4e0b\u4e3a\u7279\u5f81\u3002\u4f17\u6240\u5468\u77e5\uff0c9p \u7f3a\u5931\u5177\u6709\u5f02\u8d28\u6027\uff0c\u8868\u73b0\u4e3a\u4e0d\u540c\u5927\u5c0f\u7684\u7f3a\u5931\u3002\u636e\u62a5\u9053\uff0c\u5bf9\u5171\u8bc6\u8868\u578b\u81f3\u5173\u91cd\u8981\u7684\u5173\u952e\u533a\u57df\u4f4d\u4e8e 9p22 \u4e0a\u7ea6 4-6 Mb \u7684\u533a\u95f4\u5185\u3002\u5728\u672c\u7814\u7a76\u4e2d\uff0c\u6211\u4eec\u901a\u8fc7\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u4ee5\u53ca\u5728\u90e8\u5206\u75c5\u4f8b\u4e2d\u7ed3\u5408\u5fae\u9635\u5217\u82af\u7247\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08Array-CGH\uff09\uff0c\u786e\u5b9a\u4e86 13 \u4f8b\u8377\u5170\u60a3\u8005\u7684\u7f3a\u5931\u65ad\u88c2\u70b9\u3002\u5c3d\u7ba1\u672a\u80fd\u5efa\u7acb\u8d77\u5404\u79cd\u53d1\u80b2\u5b66\u7279\u5f81\u4e4b\u95f4\u660e\u786e\u7684\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u76f8\u5173\u6027\uff0c\u4f46\u6210\u529f\u5c06 9p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5173\u952e\u6838\u5fc3\u533a\u57df\u7f29\u5c0f\u5230\u4e86\u7ea6 300 kb\u3002\u4f5c\u4e3a\u4e09\u89d2\u5934\u7578\u5f62\u7684\u529f\u80fd\u6027\u5019\u9009\u57fa\u56e0\uff0cCER1 \u57fa\u56e0\u4f3c\u4e4e\u6070\u597d\u4f4d\u4e8e\u8be5\u533a\u57df\u4e4b\u5916\u3002\u6b64\u5916\uff0c\u5bf9\u53e6\u5916 9 \u4f8b\u5b64\u7acb\u6027\u4e09\u89d2\u5934\u7578\u5f62\u60a3\u8005\u7684\u8be5\u57fa\u56e0\u8fdb\u884c\u5e8f\u5217\u5206\u6790\uff0c\u672a\u53d1\u73b0\u81f4\u75c5\u6027\u7a81\u53d8\u3002<\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32310\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32310<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u955c\u624b\u7578\u5f62\u7684\u65b0\u5019\u9009\u533a\u57df\uff1a\u4e24\u4f8b\u5e26\u6709\u672b\u7aef 9p \u7f3a\u5931\u548c 20p \u91cd\u590d\u7684\u60a3\u8005<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>9p \u7f3a\u5931\u7efc\u5408\u5f81\u5728\u65e2\u5f80\u7814\u7a76\u4e2d\u5df2\u88ab\u8be6\u7ec6\u754c\u5b9a\uff0c\u5176\u7279\u5f81\u8868\u73b0\u4e3a\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u9762\u90e8\u7578\u5f62\u548c\u751f\u6b96\u5668\u5f02\u5e38\u7b49\u591a\u79cd\u4e34\u5e8a\u7279\u5f81\u3002\u4e0e 9p \u7f3a\u5931\u7efc\u5408\u5f81\u76f8\u6bd4\uff0c\u6587\u732e\u4e2d\u5173\u4e8e 20p \u91cd\u590d\u7684\u62a5\u9053\u6781\u5c11\uff0c\u4ec5\u6709\u6570\u4f8b\u75c5\u4f8b\u62a5\u544a\u3002\u800c\u5173\u4e8e 9p \u7f3a\u5931\u7efc\u5408\u5f81\u5408\u5e76 20p \u91cd\u590d\u7684\u75c5\u4f8b\u4ec5\u6709 4 \u4f8b\u88ab\u62a5\u9053\u3002\u672c\u7814\u7a76\u65e8\u5728\u8c03\u67e5\u5728 2 \u4f8b\u8868\u73b0\u51fa\u955c\u624b\u8fd0\u52a8\uff08Mirror hand movements\uff09\u7684\u60a3\u8005\u4e2d\u6240\u89c2\u5bdf\u5230\u7684\u8fd9\u79cd\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u91cd\u6392\uff089p\u90e8\u5206\u5355\u4f53\u5408\u5e7620p\u4e09\u4f53\uff09\u3002\u955c\u624b\u8fd0\u52a8\u53d7\u5230\u9057\u4f20\u56e0\u7d20\u548c\u73af\u5883\u56e0\u7d20\u5171\u540c\u4ea4\u7ec7\u7684\u5f71\u54cd\u3002\u867d\u7136\u90e8\u5206\u75c5\u4f8b\u88ab\u8bc1\u5b9e\u4e0e DCC\u3001NTN1\u3001RAD51 \u548c DNAL4 \u57fa\u56e0\u7684\u7a81\u53d8\u76f8\u5173\uff0c\u4f46\u4ecd\u6709\u8bb8\u591a\u75c5\u4f8b\u7684\u955c\u624b\u8fd0\u52a8\u9057\u4f20\u673a\u5236\u65e0\u6cd5\u5f97\u5230\u89e3\u91ca\u3002\u5728\u6211\u4eec\u7684\u60a3\u8005\u4e2d\uff0c\u672a\u68c0\u6d4b\u5230\u5148\u524d\u5df2\u77e5\u7684\u5bfc\u81f4\u955c\u624b\u7578\u5f62\u57fa\u56e0\u7684\u6539\u53d8\u3002\u8fd9\u4e00\u65b0\u53d1\u73b0\u53ef\u80fd\u5f52\u56e0\u4e8e 9p \u7f3a\u5931\u533a\u57df\u6216 20p \u91cd\u590d\u533a\u57df\u5185\u57fa\u56e0\u7684\u5242\u91cf\u6548\u5e94\uff0c\u6216\u8005\u662f\u65ad\u88c2\u70b9\u533a\u57df\u5185\u88ab\u7834\u574f\n\n\n\n<div>\n  <h3>18 p deletions<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u4e00\u4f8b\u4ee5\u5168\u5782\u4f53\u529f\u80fd\u51cf\u9000\u75c7\u4e3a\u8868\u73b0\u7684\u65b0\u53d1\u7a81\u53d8\u75c5\u4f8b<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>18\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u7f3a\u5931\u662f\u4e00\u79cd\u4ee5\u667a\u529b\u969c\u788d\u3001\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u3001\u9885\u9762\u90e8\u7578\u5f62\uff08\u5982\u62db\u98ce\u8033\u3001\u5c0f\u5934\u7578\u5f62\u3001\u773c\u7751\u4e0b\u5782\u3001\u5706\u8138\u7b49\uff09\u4e3a\u7279\u5f81\u7684\u7f55\u89c1\u75be\u75c5\u3002\u5176\u8868\u578b\u8c31\u5341\u5206\u5e7f\u6cdb\uff0c\u6db5\u76d6\u4e86\u4ece\u8f7b\u5ea6\u5148\u5929\u7578\u5f62\u5230\u5168\u524d\u8111\u7578\u5f62\uff08\u524d\u8111\u65e0\u88c2\u7578\u5f62\uff09\u7b49\u5404\u79cd\u5f02\u5e38\u3002\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d 2 \u5c81\u5973\u7ae5\u7684\u75c5\u4f8b\uff0c\u5979\u8868\u73b0\u51fa\u773c\u7751\u4e0b\u5782\u3001\u5706\u8138\u3001\u540e\u53d1\u9645\u7ebf\u4f4e\u3001\u9888\u8e7c\uff08\u5bbd\u9888\uff09\u3001\u8eab\u6750\u77ee\u5c0f\u4ee5\u53ca\u5168\u5782\u4f53\u529f\u80fd\u51cf\u9000\u3002\u8be5\u60a3\u513f\u66fe\u56e0\u590d\u53d1\u6027\u4e2d\u8033\u708e\u63a5\u53d7\u4e86\u901a\u6c14\u7ba1\uff08D-T\u7ba1\uff09\u7f6e\u5165\u672f\u3002\u8111\u78c1\u5171\u632f\u6210\u50cf\uff08MRI\uff09\u663e\u793a\u5f02\u4f4d\u5782\u4f53\u540e\u53f6\u3001\u5782\u4f53\u67c4\u663e\u793a\u4e0d\u826f\u3001\u4ee5\u53ca\u8776\u978d\u6d45\u5c0f\u3002\u7ec6\u80de\u9057\u4f20\u5b66\u53ca\u67d3\u8272\u4f53\u5fae\u9635\u5217\u82af\u7247\u5206\u6790\u8bc1\u5b9e\uff0c\u5176 18\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u5b58\u5728\u4e00\u4e2a\u65b0\u53d1\uff08de novo\uff09\u7f3a\u5931\uff08arr 18p11.32p11.21[136,227-15,099,116]x1\uff09\u3002\u60a3\u513f\u88ab\u8bca\u65ad\u4e3a\u751f\u957f\u6fc0\u7d20\uff08GH\uff09\u7f3a\u4e4f\u75c7\uff0c\u5e76\u4ece\u751f\u540e 6 \u4e2a\u6708\u8d77\u63a5\u53d7\u91cd\u7ec4\u4eba\u751f\u957f\u6fc0\u7d20\uff08rhGH\uff09\u6cbb\u7597\u3002\u7ecf\u8fc7 GH \u6cbb\u7597\u540e\uff0c\u60a3\u513f\u7684\u751f\u957f\u901f\u7387\u5f97\u5230\u6539\u5584\uff0c\u4e14\u672a\u51fa\u73b0\u526f\u4f5c\u7528\u3002\u8be5\u75c5\u4f8b\u6269\u5c55\u4e86 18p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8868\u578b\u8c31\uff0c\u5e76\u5f3a\u8c03\u4e86\u5728\u4ee5\u751f\u957f\u505c\u6ede\u4e3a\u7279\u5f81\u7684\u8be5\u7efc\u5408\u5f81\u4e2d\uff0cGH \u6cbb\u7597\u5bf9\u7ebf\u6027\u751f\u957f\u5177\u6709\u79ef\u6781\u7684\u4fc3\u8fdb\u4f5c\u7528\u3002\u4e3a\u4e86\u9610\u660e 18p \u7f3a\u5931\u7efc\u5408\u5f81\u4e2d\u57fa\u4e8e\u7f3a\u5931\u5927\u5c0f\u548c\u4e0d\u540c\u4f4d\u70b9\u7684\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u76f8\u5173\u6027\u5e76\u9884\u6d4b\u9884\u540e\uff0c\u4ecd\u9700\u5f00\u5c55\u8fdb\u4e00\u6b65\u7684\u7814\u7a76\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30943682\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30943682\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u4e00\u4f8b\u5e26\u6709 18p \u67d3\u8272\u4f53\u7f3a\u5931\u6210\u5e74\u7537\u6027\u60a3\u8005\u7684\u968f\u8bbf\u8c03\u67e5<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>18p- \u7efc\u5408\u5f81\u81ea 40 \u591a\u5e74\u524d\u88ab\u53d1\u73b0\u4ee5\u6765\u4fbf\u5e7f\u4e3a\u4eba\u77e5\uff0c\u6700\u65e9\u7531 de Grouchy \u7b49\u4eba\u62a5\u9053\uff3bComptes Rendus Hebdomadaires S\u00e9ances l&#8217;Acad Sci 256 (1963) 1028\uff3d\u3002\u4e0d\u540c\u4e25\u91cd\u7a0b\u5ea6\u7684\u667a\u529b\u4f4e\u4e0b\u662f\u8be5\u75c5\u6700\u6052\u5b9a\u4e0d\u53d8\u7684\u7279\u5f81\u3002\u76ee\u524d\u5df2\u62a5\u9053\u4e86 100 \u591a\u4f8b\u75c5\u4f8b\u3002\u6587\u732e\u4e2d\u62a5\u9053\u8fc7\u7684\u6700\u9ad8\u9f84\u60a3\u8005\u4e3a 50 \u5c81 [Hum Genet 63 (1983) 139; Clin Genet 2 (1971) 338]\u3002\u672c\u6587\u5bf9\u4e24\u540d\u6b64\u524d\u5728 22 \u5c81\u548c 42 \u5c81\u65f6\u63a5\u53d7\u8fc7\u62a5\u9053\u7684\u6210\u5e74\u60a3\u8005\u8fdb\u884c\u4e86\u968f\u8bbf\u7814\u7a76 [Ann G\u00e9n\u00e9t 29 (1986) 107]\uff0c\u4ed6\u4eec\u76ee\u524d\u5e74\u9f84\u5206\u522b\u4e3a 42 \u5c81\u548c 62 \u5c81\u3002\u4e3a\u4e86\u66f4\u6e05\u6670\u5730\u9610\u660e 18p- \u7efc\u5408\u5f81\u6210\u5e74\u60a3\u8005\u7684\u4e34\u5e8a\u75c5\u7a0b\uff0c\u4ecd\u9700\u66f4\u591a\u76f8\u5173\u75c5\u4f8b\u62a5\u544a\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721205000303?via%3Dihub\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721205000303?via%3Dihub<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u4e00\u4f8b\u8868\u73b0\u51fa\u7c7b\u4f3c\u4e8e\u7279\u7eb3\u7efc\u5408\u5f81\u7684\u8eab\u6750\u77ee\u5c0f\u3001\u77ed\u9888\u3001\u4f4e\u540e\u53d1\u9645\u7ebf\u3001\u773c\u7751\u6c34\u80bf\u3001\u8098\u63d0\u89d2\u589e\u5927\u7b49\u4e34\u5e8a\u7279\u5f81\u7684 13 \u5c81 18p \u7f3a\u5931\u7efc\u5408\u5f81\u5973\u7ae5<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  \u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d 13 \u5c81\u5973\u7ae5\u7684\u75c5\u4f8b\uff0c\u5979\u8868\u73b0\u51fa\u7c7b\u4f3c\u4e8e\u7279\u7eb3\uff08Turner\uff09\u7efc\u5408\u5f81\u7684\u4e34\u5e8a\u75c7\u72b6\u3002<br>\n  \u75c5\u4f8b\u62a5\u544a<br>\n  \u4e00\u540d 13 \u5c81\u5973\u7ae5\u56e0\u8eab\u6750\u77ee\u5c0f\u3001\u77ed\u9888\u3001\u540e\u53d1\u9645\u7ebf\u4f4e\u3001\u773c\u7751\u80bf\u80c0\uff08\u6c34\u80bf\uff09\u3001\u8098\u90e8\u63d0\u89d2\uff08\u643a\u7269\u89d2\uff09\u589e\u5927\u7b49\u7c7b\u7279\u7eb3\u7efc\u5408\u5f81\u4e34\u5e8a\u7279\u5f81\u800c\u88ab\u8f6c\u8bca\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\u3002\u8be5\u5973\u7ae5\u8fd8\u4f34\u6709\u8f7b\u5ea6\u667a\u529b\u969c\u788d\u3001\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u8bed\u8a00\u969c\u788d\u3001\u9ad8\u62f1\u816d\u88c2\u3001\u591a\u6307\u7578\u5f62\u4ee5\u53ca\u4e2d\u9762\u90e8\u53d1\u80b2\u4e0d\u826f\u3002\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u663e\u793a\uff0c\u5176\u6838\u578b\u4e3a 46,XX,del(18)(p11.2)\u3002\u5176\u7236\u6bcd\u6838\u578b\u5747\u6b63\u5e38\u3002\u5229\u7528\u5916\u5468\u8840\u63d0\u53d6\u7684 DNA \u8fdb\u884c\u5fae\u9635\u5217\u82af\u7247\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u5206\u6790\u63ed\u793a\uff0c\u5176\u5b58\u5728\u4e00\u4e2a\u4f4d\u4e8e 18p11.32-p11.21 \u533a\u57df\u7684 13.93 Mb \u7f3a\u5931\uff08\u6216 arr 18p11.32p11.21(148,993-14,081,858)\u00d71.0\uff3bGRCh37\uff08hg19\uff09\uff3d\uff09\u3002\u8be5\u7f3a\u5931\u533a\u57df\u5305\u542b\u4e86 52 \u4e2a Online Mendelian Inheritance in Man\uff08OMIM\uff09\u57fa\u56e0\uff0c\u5176\u4e2d\u5305\u62ec USP14\u3001TYMS\u3001SMCHD1\u3001TGIF1\u3001LAMA1\u3001TWSG1\u3001GNAL \u548c PTPN2\u3002\u591a\u6001\u6027 DNA \u6807\u8bb0\u5206\u6790\u8868\u660e\uff0c\u8be5\u7f3a\u5931\u8d77\u6e90\u4e8e\u6bcd\u6e90\u3002<br>\n  \u7ed3\u8bba<br>\n  \u5bf9\u4e8e\u8868\u73b0\u51fa\u7c7b\u7279\u7eb3\u7efc\u5408\u5f81\u4e34\u5e8a\u7279\u5f81\u4e14\u4f34\u6709\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7578\u5f62\u3001\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u7684\u5973\u6027\u60a3\u8005\uff0c\u5e94\u9ad8\u5ea6\u6000\u7591\u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u53ef\u80fd\u6027\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30122583\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30122583\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u4e00\u4f8b\u5408\u5e76 18p \u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e\u975e\u5bf9\u79f0\u6027\u5ba4\u95f4\u9694\u80a5\u539a\u4e73\u513f\u75c5\u4f8b<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>18p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u53d1\u75c5\u7387\u4f30\u8ba1\u7ea6\u4e3a 1\/50000\uff0c\u901a\u5e38\u4f34\u6709\u8eab\u6750\u77ee\u5c0f\u3001\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7578\u5f62\u7b49\u4e34\u5e8a\u7279\u5f81\u3002\u672c\u4f8b\u60a3\u513f\u7684\u8eaf\u4f53\u7279\u5f81\u5305\u62ec\u8eab\u6750\u77ee\u5c0f\u3001\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7578\u5f62\uff08\u5c0f\u5934\u7578\u5f62\u3001\u773c\u7751\u4e0b\u5782\u3001\u5185\u7726\u8d58\u76ae\u3001\u9f3b\u6881\u4f4e\u5e73\u3001\u62db\u98ce\u8033\u3001\u957f\u624b\u6307\u3001\u8584\u5507\uff09\u4ee5\u53ca\u7b2c5\u6307\u77ed\u6307\u3002\u5916\u5468\u8840\u6838\u578b\u5206\u6790\u663e\u793a\u4e3a 46,XX,del(18)(p11.32p11.2)\u3002DNA \u5fae\u9635\u5217\u82af\u7247\u5206\u6790\u8bc1\u5b9e\uff0c\u5728 18p11.32p11.21 \u533a\u57df\u5b58\u5728\u4e00\u4e2a 13.9 Mb \u7684\u65b0\u53d1\u7f3a\u5931\u3002\u8d85\u58f0\u5fc3\u52a8\u56fe\u68c0\u67e5\u63d0\u793a\u975e\u5bf9\u79f0\u6027\u5ba4\u95f4\u9694\u80a5\u539a\uff08ASH\uff09\u3002\u5728\u8be5\u7efc\u5408\u5f81\u4e2d\uff0c\u5148\u5929\u6027\u5fc3\u810f\u5f02\u5e38\u6781\u5176\u7f55\u89c1\u3002\u8fd9\u4e00\u53d1\u73b0\u63d0\u793a\uff0c\u53c2\u4e0e\u5fc3\u810f\u53d1\u80b2\u7684\u57fa\u56e0\u6216\u57fa\u56e0\u5ea7\u53ef\u80fd\u4f4d\u4e8e\u8be5\u67d3\u8272\u4f53\u533a\u57df\u3002\u867d\u7136\u7f55\u89c1\uff0c\u4f46\u5728\u8bc4\u4f30\u7b26\u5408 18p \u7f3a\u5931\u7efc\u5408\u5f81\u8868\u73b0\u4e14\u5e26\u6709\u76f8\u5e94\u9057\u4f20\u5b66\u5f02\u5e38\u7ed3\u679c\u7684\u60a3\u8005\u65f6\uff0c\u4e34\u5e8a\u4e0a\u4ecd\u5e94\u5c06\u5fc3\u808c\u80a5\u539a\u7eb3\u5165\u8003\u91cf\u3002<\/p>\n  <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35707779\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/35707779\/<\/a>\n<\/div>\n  \n  <div class=\"ac-title\">\n    <h4>4 \u4f8b 18p \u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u7684\u667a\u529b\u3001\u9002\u5e94\u6027\u53ca\u884c\u4e3a\u7279\u5f81<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  \u80cc\u666f<br>\n  \u5728\u7531 18p \u7f3a\u5931\u7efc\u5408\u5f81\u7b49\u67d3\u8272\u4f53\u5f02\u5e38\u5f15\u8d77\u7684\u75be\u75c5\u4e2d\uff0c\u5c06\u884c\u4e3a\u8868\u578b\u8bc4\u4f30\u4e0e\u7ec6\u80de\u9057\u4f20\u5b66\u7279\u5f81\u76f8\u7ed3\u5408\uff0c\u6709\u52a9\u4e8e\u52a0\u6df1\u5bf9\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\u7684\u7406\u89e3\u3002<br>\n  \u65b9\u6cd5<br>\n  \u6211\u4eec\u62a5\u544a\u4e86 4 \u4f8b\u901a\u8fc7\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u548c\u8be6\u7ec6\u795e\u7ecf\u5fc3\u7406\u5b66\u8bc4\u4f30\u660e\u786e\u8bca\u65ad\u7684\u5df4\u897f 18p \u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u3002\u5206\u522b\u91c7\u7528\u97e6\u6c0f\u91cf\u8868\uff08Wechsler\uff09\u3001\u6587\u5170\u91cf\u8868\uff08Vineland-II\uff09\u548c\u513f\u7ae5\u884c\u4e3a\u6838\u67e5\u8868\uff08CBCL\uff09\u8bc4\u4f30\u4e86\u60a3\u8005\u7684\u667a\u529b\u7279\u6027\u3001\u9002\u5e94\u7279\u6027\u548c\u884c\u4e3a\u7279\u6027\u3002\u6b64\u5916\uff0c\u8fd8\u6536\u96c6\u4e86\u7531\u5df4\u897f\u793e\u4f1a\u9636\u5c42\u5206\u7c7b\u6807\u51c6\u5b9a\u4e49\u7684\u5bb6\u5ead\u4e3b\u8981\u629a\u517b\u4eba\u6559\u80b2\u6c34\u5e73\u548c\u5bb6\u5ead\u603b\u6536\u5165\u7b49\u793e\u4f1a\u7ecf\u6d4e\u6307\u6807\uff0c\u4ee5\u8bc4\u4f30\u73af\u5883\u56e0\u7d20\u5bf9\u795e\u7ecf\u8ba4\u77e5\u5dee\u5f02\u7684\u6f5c\u5728\u8d21\u732e\u3002\n  \u7ed3\u679c<br>\n  4 \u4f8b\u60a3\u8005\u4e2d\u6709 2 \u4f8b\u60a3\u6709\u667a\u529b\u969c\u788d\uff08IQ &lt; 70\uff09\u3002\u97e6\u6c0f\u91cf\u8868\u7684\u7ed3\u679c\u63d0\u793a\uff0c\u5728\u6211\u4eec\u7684\u6837\u672c\u4e2d\uff0c\u57fa\u4e8e\u975e\u8bed\u8a00\u884c\u4e3a\u89c2\u5bdf\u5bf9\u793e\u4f1a\u60c5\u5883\u7684\u89e3\u8bfb\u6784\u6210\u4e86\u8ba4\u77e5\u4f18\u52bf\uff1b\u800c\u5bf9\u793e\u4f1a\u89c4\u5219\u7684\u5224\u65ad\u3001\u4ee5\u53ca\u4e0e\u8bcd\u6c47\u77e5\u8bc6\u548c\u6d41\u5229\u8bed\u8a00\u80fd\u529b\u76f8\u5173\u7684\u8a00\u8bed\u6280\u80fd\u5219\u53ef\u80fd\u6784\u6210\u8ba4\u77e5\u52a3\u52bf\u3002\u5728\u9002\u5e94\u6027\u884c\u4e3a\u65b9\u9762\uff0c\u6587\u5170\u91cf\u8868\u663e\u793a\uff0c\u76f8\u6bd4\u4e8e\u6c9f\u901a\u80fd\u529b\u548c\u65e5\u5e38\u751f\u6d3b\u80fd\u529b\uff0c\u60a3\u8005\u7684\u8fd0\u52a8\u6280\u80fd\u548c\u793e\u4ea4\u80fd\u529b\u9886\u57df\u53d1\u80b2\u66f4\u4e3a\u826f\u597d\u3002\u4ec5\u6709 1 \u4f8b\u60a3\u8005\u8868\u73b0\u51fa\u57fa\u4e8e\u513f\u7ae5\u884c\u4e3a\u6838\u67e5\u8868\uff08CBCL\uff09\u7684\u5185\u5316\u884c\u4e3a\u95ee\u9898\u3002\u7ed3\u679c\u8fd8\u63d0\u793a\uff0c\u793e\u4f1a\u7ecf\u6d4e\u5730\u4f4d\u53ef\u80fd\u5bf9\u60a3\u8005\u7684\u6574\u4f53\u53d1\u80b2\u505a\u51fa\u4e86\u8d21\u732e\u3002<br>\n  \u7ed3\u8bba<br>\n  \u6211\u4eec\u7684\u7814\u7a76\u7ed3\u679c\u8868\u660e\uff0c\u90e8\u5206 18p \u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u53ef\u8868\u73b0\u51fa\u5e73\u5747\u6c34\u5e73\u7684\u667a\u529b\uff0c\u7f3a\u5931\u7684\u5927\u5c0f\u4ee5\u53ca\u5bb6\u5ead\u7684\u793e\u4f1a\u7ecf\u6d4e\u80cc\u666f\u5747\u53ef\u80fd\u5bf9\u60a3\u8005\u7684\u8ba4\u77e5\u53d1\u80b2\u4ea7\u751f\u8c03\u8282\u5f71\u54cd\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30536814\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30536814\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>18p \u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u57fa\u56e0\u578b\u4e0e\u8868\u578b\uff1a\u75c5\u4f8b\u7cfb\u5217\u62a5\u9053<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  \u80cc\u666f\uff1a18p \u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u6307 18\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u5168\u90e8\u6216\u90e8\u5206\u7f3a\u5931\u5bfc\u81f4\u7684\u75be\u75c5\u3002\u7531\u4e8e\u7f3a\u5931\u5927\u5c0f\u3001\u65ad\u88c2\u70b9\u4f4d\u7f6e\u4ee5\u53ca\u53d7\u7d2f\u57fa\u56e0\u7684\u4e0d\u540c\uff0c18p \u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8868\u578b\u5177\u6709\u5de8\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\u3002\u9274\u4e8e\u8be5\u7efc\u5408\u5f81\u4e34\u5e8a\u8868\u73b0\u7684\u591a\u6837\u6027\u548c\u975e\u5178\u578b\u6027\uff0c\u5176\u4ea7\u524d\u8bca\u65ad\u4ecd\u9762\u4e34\u5de8\u5927\u6311\u6218\u3002<br>\n  \u60a3\u8005\u4e34\u5e8a\u95ee\u9898<br>\n  \u6211\u4eec\u62a5\u544a\u4e86 4 \u4f8b\u5177\u6709\u4e0d\u540c\u67d3\u8272\u4f53\u65ad\u88c2\u70b9\u7684\u4e2d\u56fd\u80ce\u513f\/\u60a3\u8005\u75c5\u4f8b\u3002\u5728\u75c5\u4f8b1\u4e2d\uff0c\u4e00\u540d\u8868\u73b0\u4e3a\u8f7b\u5ea6\u8868\u578b\u7684\u5973\u6027\u5206\u5a29\u4e86\u4e00\u540d\u5177\u6709\u4e25\u91cd\u7578\u5f62\u7684\u80ce\u513f\u3002\u5176\u4f59 3 \u4f8b\u5747\u901a\u8fc7\u4ea7\u524d\u8bca\u65ad\u786e\u8bca\uff0c\u5176\u80ce\u513f\u8868\u578b\u5206\u522b\u8868\u73b0\u4e3a\u9888\u9879\u900f\u660e\u5c42\uff08NT\uff09\u589e\u539a\u3001\u65e0\u521b prenatal \u57fa\u56e0\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u63d0\u793a 18\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u7f3a\u5931\u3001\u4ee5\u53ca\u91cd\u5ea6\u80be\u76c2\u79ef\u6c34\u3002<br>\n  \u8bca\u65ad<br>\n  4 \u4f8b\u60a3\u8005\u5747\u901a\u8fc7\u6838\u578b\u5206\u6790\u548c\u5fae\u9635\u5217\u82af\u7247\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08Array-CGH\uff09\u88ab\u786e\u8bca\u4e3a 18p \u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u3002<br>\n  \u5e72\u9884\u63aa\u65bd<br>\n  \u5229\u7528\u6838\u578b\u5206\u6790\u548c\u5fae\u9635\u5217\u82af\u7247\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u6280\u672f\u5bf9\u5f02\u5e38\u67d3\u8272\u4f53\u8fdb\u884c\u4e86\u6df1\u5ea6\u89e3\u6790\u3002<br>\n  \u7ed3\u679c<br>\n  \u75c5\u4f8b1\u548c\u75c5\u4f8b2\u5728 18p11.32p11.21 \u533a\u57df\u5206\u522b\u643a\u5e26 11.51 Mb \u548c 12.39 Mb \u7684\u7f3a\u5931\u3002\u75c5\u4f8b3\u5728 18p11.3218p11.23 \u533a\u57df\u643a\u5e26 7.1 Mb \u7684\u7f3a\u5931\u3002\u75c5\u4f8b4\u5728 18p11.3218p11.22 \u533a\u57df\u643a\u5e26 9.9 Mb \u7684\u7f3a\u5931\u3002<br>\n  \u672c\u7814\u7a76\u9996\u6b21\u62a5\u9053\u4e86\u5e26\u6709\u76f8\u540c\u67d3\u8272\u4f53\u65ad\u88c2\u70b9\u7684\u6bcd\u4eb2\u4e0e\u540e\u4ee3\u4e4b\u95f4\u53ef\u8868\u73b0\u51fa\u663e\u8457\u4e0d\u540c\u7684\u4e34\u5e8a\u8868\u578b\u3002\u6b64\u5916\uff0c\u53d1\u73b0\u4e86\u80ce\u513f\u671f 18p \u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u65b0\u578b\u8868\u578b\uff0c\u4e30\u5bcc\u4e86\u8be5\u7efc\u5408\u5f81\u5728\u4ea7\u524d\u8bca\u65ad\u4e2d\u7684\u4e34\u5e8a\u8c31\u7cfb\u3002\u6700\u540e\uff0c\u7814\u7a76\u8868\u660e\uff0c\u867d\u7136\u5e26\u6709\u4e0d\u540c\u67d3\u8272\u4f53\u65ad\u88c2\u70b9\u7684 18p \u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u8868\u578b\u5404\u5f02\uff0c\u4f46\u5373\u4fbf\u662f\u5728\u67d3\u8272\u4f53\u65ad\u88c2\u70b9\u4f4d\u7f6e\u76f8\u540c\u7684\u4e2a\u4f53\u4e4b\u95f4\uff0c\u5176\u8868\u578b\u4e5f\u53ef\u80fd\u5b58\u5728\u663e\u8457\u7684\u5f02\u8d28\u6027\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33950970\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/33950970\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u4ece\u7ec6\u80de\u9057\u4f20\u5b66\u3001\u5206\u5b50\u751f\u7269\u5b66\u53ca\u8868\u578b\u89d2\u5ea6\u5206\u6790\u4e00\u4f8b\u65b0\u53d1\u884d\u751f 18\u53f7\u67d3\u8272\u4f53\u60a3\u8005\u7279\u5f81\u53ca\u6587\u732e\u590d\u4e60<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u6211\u4eec\u4ecb\u7ecd\u4e86\u4e00\u540d\u5e26\u6709\u65b0\u53d1\uff08de novo\uff0918\u53f7\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5973\u7ae5\u75c5\u4f8b\uff0c\u5979\u9664\u4f34\u6709 18p \u672b\u7aef\u7f3a\u5931\u548c 18q \u672b\u7aef\u91cd\u590d\u5916\uff0c\u8fd8\u5408\u5e76\u5b58\u5728 18p \u9690\u533f\u6027\u91cd\u590d\u3002\u8be5\u5973\u7ae5\u8868\u73b0\u51fa\u8f7b\u5ea6\u7684\u9762\u90e8\u7578\u5f62\uff0c\u5305\u62ec\u5c0f\u4e0b\u988c\u3001\u816d\u88c2\u3001\u53cc\u60ac\u96cd\u5782\u3001\u9ad8\u62f1\u816d\u3001\u4f4e\u4f4d\u8033\u3001\u77ed\u9888\u548c\u4e30\u6ee1\u7684\u53cc\u988a\u3002\u6b64\u5916\uff0c\u5979\u8fd8\u60a3\u6709 H \u578b\u6c14\u7ba1\u98df\u7ba1\u7618\uff0c\u9700\u8981\u63a5\u53d7\u5916\u79d1\u624b\u672f\u77eb\u6b63\u3002\u5176\u8ba4\u77e5\u548c\u8fd0\u52a8\u80fd\u529b\u53d1\u80b2\u843d\u540e\u3002\u4f20\u7edf\u7684\u6838\u578b\u5206\u6790\u63d0\u793a\u5176 18\u53f7\u67d3\u8272\u4f53\u77ed\u8155\u4e0a\u5e26\u6709\u989d\u5916\u7247\u6bb5\u3002\u67d3\u8272\u4f53\u5fae\u9635\u5217\uff08CMA\uff09\u82af\u7247\u7ed3\u679c\u663e\u793a\uff0c\u5176 18p11.32 \u81f3 18p11.23 \u533a\u57df\u5b58\u5728 7.3 Mb \u7684\u672b\u7aef\u7f3a\u5931\uff0c18q21.31 \u81f3 18q23 \u533a\u57df\u5b58\u5728 22.2 Mb \u7684\u672b\u7aef\u91cd\u590d\uff0c\u5e76\u4e14\u5728 18p11.22 \u81f3 18p11.21 \u533a\u57df\u5b58\u5728 3.9 Mb \u7684\u95f4\u8d28\u6027\u91cd\u590d\u3002\u6211\u4eec\u63a8\u6d4b\uff0c\u5176\u6bcd\u4eb2\u53ef\u80fd\u643a\u5e26\u7531\u6b63\u5e38 18\u53f7\u67d3\u8272\u4f53\u3001der(18)dup(p11.22p11.21) \u548c der(18)dup(p11.22p11.21)inv(18)(p11.22q21.31) \u7ec4\u6210\u7684\u6027\u817a\u5d4c\u5408\u4f53\uff0c\u6216\u8005\u8be5\u60a3\u513f\u4f53\u5185\u7684\u672b\u7aef\u7f3a\u5931\/\u91cd\u590d\u4e0e\u95f4\u8d28\u6027\u91cd\u590d\u662f\u5728\u540c\u4e00\u65f6\u671f\u72ec\u7acb\u65b0\u53d1\u7684\u3002<\/p>\n    <a href=\"https:\/\/karger.com\/cgr\/article-abstract\/159\/2\/74\/62594\/Cytogenetic-Molecular-and-Phenotypic?redirectedFrom=fulltext\">https:\/\/karger.com\/cgr\/article-abstract\/159\/2\/74\/62594\/Cytogenetic-Molecular-and-Phenotypic?redirectedFrom=fulltext<\/a>\n  <p>\u56e0\u7236\u6bcd\u643a\u5e26 18\u53f7\u67d3\u8272\u4f53\u81c2\u95f4\u5012\u4f4d\uff0c\u5206\u5a29\u4e86\u4e00\u540d\u8868\u578b\u6b63\u5e38\u7684 18\u53f7\u67d3\u8272\u4f53\u8282\u6bb5\u6027\u5355\u4eb2\u4e8c\u500d\u4f53\uff08UPD\uff09\u60a3\u513f\u3002\n  \u672c\u7814\u7a76\u62a5\u9053\u4e86\u4e00\u4e2a\u643a\u5e26\u5bb6\u65cf\u6027 18\u53f7\u67d3\u8272\u4f53\u81c2\u95f4\u5012\u4f4d inv(18)(p11.31q21.33) \u7684\u5bb6\u7cfb\u3002\u5176\u7b2c\u4e00\u80ce\u9664\u7ee7\u627f\u4e86\u4e00\u6761\u5e73\u8861\u578b 18\u53f7\u67d3\u8272\u4f53\u5012\u4f4d\u5916\uff0c\u8fd8\u7ee7\u627f\u4e86 18\u53f7\u67d3\u8272\u4f53\u7684\u91cd\u7ec4\u578b\u7ed3\u6784 [dup(18q)\/del(18p)]\uff0c\u8be5\u60a3\u513f\u65e0\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\uff0c\u4ec5\u8868\u73b0\u51fa\u8f7b\u5ea6\u7578\u5f62\u3002\u800c\u7b2c\u4e8c\u80ce\u5219\u7ee7\u627f\u4e86\u4e24\u6761\u91cd\u7ec4\u7684 18\u53f7\u67d3\u8272\u4f53\uff0c\u5176\u4e2d\u4ece\u6bcd\u4eb2\u5904\u7ee7\u627f\u4e86\u7f3a\u5931 18q \u5e76\u91cd\u590d 18p \u7684\u884d\u751f 18\u53f7\u67d3\u8272\u4f53 [dup(18p)\/del(18q)]\uff0c\u4ece\u7236\u4eb2\u5904\u7ee7\u627f\u4e86\u7f3a\u5931 18p \u5e76\u91cd\u590d 18q \u7684\u884d\u751f 18\u53f7\u67d3\u8272\u4f53 [dup(18q)\/del(18p)]\u3002\u867d\u7136\u8be5\u67d3\u8272\u4f53\u5f02\u5e38\u5728\u4ea7\u524d\u88ab\u68c0\u51fa\uff0c\u4f46\u7531\u4e8e\u8ba4\u4e3a\u8fd9\u4e24\u79cd\u975e\u6574\u500d\u4f53\u5728\u7a7a\u95f4\u7ed3\u6784\u4e0a\u53ef\u53d1\u751f\u76f8\u4e92\u8865\u507f\uff0c\u4e14\u5bb6\u5c5e\u77e5\u6653\u9664\u5012\u4f4d\u533a\u6bb5\u5916\u7684\u90e8\u5206\u5355\u4eb2\u4e8c\u500d\u4f53\u53ef\u80fd\u5bf9\u513f\u7ae5\u53d1\u80b2\u9020\u6210\u6f5c\u5728\u8d1f\u9762\u5f71\u54cd\uff0c\u6700\u7ec8\u4ecd\u9009\u62e9\u7ee7\u7eed\u598a\u5a20\u3002\u5355\u4eb2\u4e8c\u500d\u4f53\uff08UPD\uff09\u901a\u8fc7 SNP \u82af\u7247\u5f97\u5230\u4e86\u8bc1\u5b9e\u3002\u968f\u8bbf\u81f3\u751f\u540e 20 \u4e2a\u6708\uff0c\u8be5\u513f\u7ae5\u8868\u73b0\u5b8c\u5168\u5065\u5eb7\u4e14\u6b63\u5e38\u3002\u8be5\u75c5\u4f8b\u5c5e\u6587\u732e\u4e2d\u9996\u4f8b\u62a5\u9053\u7684\u901a\u8fc7\u4e24\u6761\u76f8\u53cd\u65b9\u5411\u7684\u91cd\u7ec4\u67d3\u8272\u4f53\u53d1\u751f\u76f8\u4e92\u8865\u507f\uff0c\u4ece\u800c\u5bfc\u81f4\u67d3\u8272\u4f53\u4e0a\u4e24\u4e2a\u7247\u6bb5\uff08\u4e00\u4e2a\u6e90\u81ea\u6bcd\u65b9\uff0c\u53e6\u4e00\u4e2a\u6e90\u81ea\u7236\u65b9\uff09\u53d1\u751f\u8282\u6bb5\u6027\u5355\u4eb2\u4e8c\u500d\u4f53\u7684\u6210\u529f\u6848\u4f8b\u3002<\/p>\n    <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3083628\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3083628\/<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>\u91cd\u7ec4 18\u53f7\u67d3\u8272\u4f53\u4e2d\u4eb2\u4ee3\u81c2\u95f4\u5012\u4f4d\u7684\u5206\u5b50\u673a\u5236\u53ca\u6587\u732e\u590d\u4e60<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u591a\u6570\u67d3\u8272\u4f53\u91cd\u6392\u662f\u7531\u4f4e\u62f7\u8d1d\u91cd\u590d\uff08LCR\uff09\u6216\u8282\u6bb5\u91cd\u590d\uff08SD\uff09\u4ecb\u5bfc\u7684\u975e\u7b49\u4f4d\u57fa\u56e0\u540c\u6e90\u91cd\u7ec4\u5f15\u8d77\u7684\u3002\u8fd1\u671f\u5173\u4e8e\u91cd\u7ec4 18\u53f7\u67d3\u8272\u4f53\uff08rec(18)\uff09\u7684\u7814\u7a76\u4e3b\u8981\u805a\u7126\u4e8e\u8bca\u65ad\u548c\u4e34\u5e8a\u8868\u578b\u3002\u6211\u4eec\u4ea7\u524d\u8bca\u65ad\u4e86\u4e24\u4f8b\u91cd\u7ec4 18\u53f7\u67d3\u8272\u4f53\u75c5\u4f8b\uff0c\u5e76\u5229\u7528\u6838\u578b\u5206\u6790\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u82af\u7247\u5206\u6790\u660e\u786e\u4e86\u7cbe\u51c6\u7684\u65ad\u88c2\u70b9\u76f8\u4e92\u95f4\u8ddd\u3002\u901a\u8fc7\u5206\u6790\u65ad\u88c2\u70b9\u91cd\u590d\u5143\u4ef6\u7684\u5206\u5e03\u7279\u5f81\u6765\u63a8\u5bfc\u91cd\u6392\u673a\u5236\uff0c\u5e76\u590d\u4e60\u76f8\u5173\u6587\u732e\u4ee5\u9610\u660e\u5176\u9057\u4f20\u503e\u5411\u3002\u5728\u6240\u5206\u6790\u7684 12 \u4e2a\u5bb6\u65cf 25 \u6b21\u598a\u5a20\u4e2d\uff0c68% \u4e3a rec(18) \u4f8b\uff0c24% \u4e3a\u81ea\u7136\u6d41\u4ea7\u4f8b\uff0c8% \u4e3a\u6b63\u5e38\u5206\u5a29\u4f8b\u3002\u5728 17 \u4f8b rec(18) \u75c5\u4f8b\u4e2d\uff0c65% \u8d77\u6e90\u4e8e\u6bcd\u6e90\uff0c35% \u8d77\u6e90\u4e8e\u7236\u6e90\u3002\u6709 10 \u4f8b\u62a5\u9053\u4e86\u4f4d\u4e8e p11.31 \u7684\u77ed\u81c2\u65ad\u88c2\u70b9\uff0c\u800c\u957f\u81c2\u65ad\u88c2\u70b9\u5219\u96c6\u4e2d\u5728 q21.3\uff086\u4f8b\uff09\u548c q12\uff084\u4f8b\uff09\u300218\u53f7\u67d3\u8272\u4f53\u81c2\u95f4\u5012\u4f4d\u7684\u65ad\u88c2\u70b9\u9ad8\u5ea6\u5bcc\u96c6\u5728 p11.31\u3001q21.3 \u548c q12 \u533a\u57df\u300218p11.31 \u7684\u91cd\u6392\u5177\u6709\u975e\u590d\u53d1\u6027\u7279\u5f81\u3002ALU\u3001LINE1 \u548c MIR \u8f6c\u5ea7\u5143\u4ef6\u5728\u65ad\u88c2\u70b9\u533a\u57df\u663e\u8457\u5bcc\u96c6\uff08\u76f8\u8f83\u4e8e\u6574\u676118\u53f7\u67d3\u8272\u4f53\u5bcc\u96c6\u4e86 1.85 \u500d\u81f3 3.42 \u500d\uff09\uff0c\u4e14\u672a\u89c1 SD \u548c LCR \u7ed3\u6784\u3002ALU \u4e9a\u5bb6\u65cf\u5728\u4e24\u5bf9\u65ad\u88c2\u70b9\u4e4b\u95f4\u8868\u73b0\u51fa 85.94% \u548c 83.01% \u7684\u5e8f\u5217\u540c\u6e90\u6027\u3002\u8fd9\u4e9b\u5fae\u5c0f\u7684\u91cd\u590d\u5143\u4ef6\u53ef\u80fd\u4ecb\u5bfc\u4e86\u4e0e\u91cd\u7ec4\u5076\u8054\u7684 DNA \u4fee\u590d\u8fc7\u7a0b\uff0c\u4ece\u800c\u4fc3\u8fdb\u4e86 18\u53f7\u67d3\u8272\u4f53\u4e0a\u7684\u91cd\u6392\u3002\u5728\u643a\u5e26\u5012\u4f4d\u7684\u5bb6\u5ead\u4e2d\uff0c\u6bcd\u4eb2\u4f5c\u4e3a\u4fdd\u56e0\u8005\u5728\u5b55\u671f\u6781\u6613\u53d1\u751f\u5f02\u5e38\u91cd\u7ec4\u3002\u91cd\u7ec4\u67d3\u8272\u4f53\u5728\u914d\u5076\u5b50\u5f62\u6210\u9636\u6bb5\u53ef\u80fd\u8868\u73b0\u51fa\u4f18\u5148\u5206\u79bb\u7684\u7279\u5f81\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37161033\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/37161033\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u4e00\u4f8b\u8868\u73b0\u4e3a 18p-\/18q+ \u7efc\u5408\u5f81\u4f34\u6301\u7eed\u6027\u955c\u4e0b\u8840\u5c3f\u7684\u79d8\u9c81\u513f\u7ae5\u75c5\u4f8b<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u7b2c18\u53f7\u67d3\u8272\u4f53\u6613\u4f4d\u4fdd\u56e0\u8005\u6709\u5206\u5a29\u643a\u5e26\u91cd\u7ec4\u67d3\u8272\u4f53\u540e\u4ee3\u7684\u98ce\u9669\uff0c\u4ece\u800c\u5bfc\u81f4\u51fa\u751f\u8868\u73b0\u51fa\u5404\u7c7b\u4e0d\u540c\u4e34\u5e8a\u75c7\u72b6\u7684\u60a3\u8005\u3002\u643a\u5e26 18p-\/18q+ \u91cd\u6392\u7684\u60a3\u8005\u867d\u7136\u5171\u4eab\u90e8\u5206\u4e34\u5e8a\u7279\u5f81\uff0c\u4f46\u5176\u4ed6\u4e34\u5e8a\u8868\u73b0\u5374\u5404\u4e0d\u76f8\u540c\u3002\u5bfc\u81f4\u8fd9\u79cd\u4e34\u5e8a\u5f02\u8d28\u6027\u7684\u6838\u5fc3\u56e0\u7d20\u4e4b\u4e00\u5728\u4e8e\u5012\u4f4d\u533a\u6bb5\u7684\u957f\u5ea6\u3002\u5728\u6b64\uff0c\u6211\u4eec\u63cf\u8ff0\u4e86\u4e00\u540d\u8868\u73b0\u51fa\u9762\u90e8\u7578\u5f62\u3001\u667a\u529b\u969c\u788d\u3001\u6301\u7eed\u6027\u955c\u4e0b\u8840\u5c3f\u3001\u4e3b\u52a8\u8109\u5047\u6027\u52a8\u8109\u7624\u4ee5\u53ca\u4e0b\u884c\u4e3b\u52a8\u8109\u708e\u7684\u79d8\u9c81\u513f\u7ae5\u3002\u5bb6\u65cf\u6838\u578b\u5206\u6790\u663e\u793a\uff0c\u5176\u6bcd\u4eb2\u4e3a 18\u53f7\u67d3\u8272\u4f53\u81c2\u95f4\u5012\u4f4d\u4fdd\u56e0\u8005 [inv(18)(p11.2q21.3)]\u3002\u8be5\u513f\u7ae5\u643a\u5e26\u91cd\u7ec4 18\u53f7\u67d3\u8272\u4f53\uff0c\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u82af\u7247\u5206\u6790\u5728\u60a3\u8005\u7684 18\u53f7\u67d3\u8272\u4f53\u4e0a\u68c0\u51fa\u4e24\u4e2a\u30b2\u30ce\u30e0\uff08\u57fa\u56e0\u7ec4\uff09\u4e0d\u5e73\u8861\u7247\u6bb5\u3002\u5728 18p-\/18q+ \u7684\u4f20\u7edf\u8868\u578b\u8c31\u4e2d\uff0c\u6b64\u524d\u4ece\u672a\u6709\u6301\u7eed\u6027\u955c\u4e0b\u8840\u5c3f\u7684\u62a5\u9053\u3002\u672c\u75c5\u4f8b\u9610\u660e\uff0c\u53ef\u80fd\u8fd8\u6709\u5176\u4ed6\u5c1a\u672a\u88ab\u53d1\u6398\u7684\u91cd\u8981\u56e0\u5b50\u5728\u53d1\u6325\u4f5c\u7528\uff0c\u4f7f\u5f97\u8be5\u4e2a\u4f53\u672a\u80fd\u5b8c\u5168\u7b26\u5408\u6b64\u7c7b\u91cd\u7ec4 18\u53f7\u67d3\u8272\u4f53\u4e2d\u4e0e\u534a\u5408\u5b50\u72b6\u6001\u76f8\u5173\u7684\u4f20\u7edf\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\uff0c\u6216\u8005\u63d0\u793a\u6b64\u7c7b\u60a3\u8005\u5728\u5e74\u9f84\u589e\u957f\u540e\u624d\u4f1a\u9010\u6e10\u663e\u73b0\u51fa\u8be5\u65b0\u578b\u4e34\u5e8a\u7279\u5f81\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29142771\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/29142771\/<\/a>\n  <\/div>\n<\/div>\n\n\n\n<div>\n  <h3>\u5fae\u5c0f\u7f3a\u5931\u4e0e\u91cd\u590d<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u5fae\u5c0f\u7f3a\u5931\uff08Microdeletions\uff09\uff1a1\/5025 \u00b7 \u91cd\u590d\uff08Duplications\uff09\uff1a1\/14286<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u6700\u8fd1\u7684\u7814\u7a76\u8868\u660e\uff0c\u5728\u6240\u6709\u62a5\u544a\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u4e2d\uff0c\u6709 4.7% \u4e3a\u5305\u542b\u5fae\u5c0f\u7f3a\u5931\u5728\u5185\u7684\u7f3a\u5931\uff0c\u5176\u5728\u65b0\u751f\u513f\u4e2d\u7684\u60a3\u75c5\u7387\u7ea6\u4e3a 1.99\/10000 (3)\u3002\n\u800c\u91cd\u590d\u7684\u60c5\u51b5\u5219\u66f4\u4e3a\u7f55\u89c1\uff0c\u5728\u65b0\u751f\u513f\u4e2d\u7684\u60a3\u75c5\u7387\u7ea6\u4e3a 0.7\/10000\uff0c\u4ec5\u5360\u6240\u6709\u62a5\u544a\u67d3\u8272\u4f53\u5f02\u5e38\u7684 1.6% (3)\u3002\n<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0015028216629643\">https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0015028216629643<\/a>\n  <\/div>\n\n\n\n<div>\n  <h3>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u75c5<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u529f\u80fd\u969c\u788d<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u5e38\u67d3\u8272\u4f53\u9690\u6027\uff08AR\uff09\u9057\u4f20\u75c5\u6784\u6210\u4e86\u9057\u4f20\u6027\u75be\u75c5\u7684\u91cd\u8981\u7ec4\u6210\u90e8\u5206\uff0c\u662f\u5bfc\u81f4\u5de8\u5927\u75be\u75c5\u8d1f\u62c5\u7684\u6838\u5fc3\u539f\u56e0\u4e4b\u4e00\u3002\u8be5\u7c7b\u75be\u75c5\u7d2f\u53ca\u7ea6 1.75-5\/1000 \u7684\u65b0\u751f\u513f\uff08\u76f8\u6bd4\u4e4b\u4e0b\uff0c\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u75c5\u7684\u7d2f\u53ca\u7387\u7ea6\u4e3a 1.4\/1000\uff09\u3002\n<\/p>\n    <a href=\"https:\/\/www.nature.com\/articles\/s41525-021-00203-x\">https:\/\/www.nature.com\/articles\/s41525-021-00203-x<\/a>\n  <\/div>\n\n\n\n<script>\nconst acBtns = document.querySelectorAll('.ac-title');\n\nacBtns.forEach(function(acBtn){\n acBtn.addEventListener('click',function(){\n   this.classList.toggle('active-title');\n   const acContent = acBtn.nextElementSibling;\n   acContent.classList.toggle('active');\n });\n});\n\n\/\/ Smooth scroll for anchor links\nconst scrollLinks = document.querySelectorAll('a[href^=\"#\"]');\n\nscrollLinks.forEach(function(link) {\n  link.addEventListener('click', function(e) {\n    e.preventDefault();\n    document.querySelector(this.getAttribute('href')).scrollIntoView({\n      behavior: 'smooth',\n      block: 'start'\n    });\n  });\n});\n<\/script>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-nipt-2 wp-block-embed-nipt-2\"><div class=\"wp-block-embed__wrapper\">\n\/nipt\/inspection-results\/\n<\/div><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u662f\u5426\u6ca1\u6709\u5fc5\u8981\u8fdb\u884c\u5168\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u4ee5\u53ca\u90e8\u5206\u7f3a\u5931\u548c\u90e8\u5206\u91cd\u590d\u7684\u7b5b\u67e5\uff1f<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u8ba4\u8bc1\u673a\u6784\u901a\u5e38\u4ec5\u63a8\u8350\u8fdb\u884c21\u300118\u300113\u4e09\u4f53\u7efc\u5408\u5f81\u7684\u7b5b\u67e5\uff0c\u6211\u4eec\u4e5f\u7ecf\u5e38\u542c\u5230\u201c\u65e0\u9700\u8fdb\u884c\u5176\u4ed6\u67d3\u8272\u4f53\u7b5b\u67e5\u201d\u7684\u8bf4\u6cd5\u3002\u5c3d\u7ba1\u5982\u6b64\uff0cHiro Clinic\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u4f9d\u7136\u63d0\u4f9b\u4e86\u6db5\u76d6\u5176\u4ed6\u67d3\u8272\u4f53\u7684\u5404\u79cd\u5168\u65b9\u4f4d\u7b5b\u67e5\u9879\u76ee\u3002\u8fd9\u662f\u56e0\u4e3a\uff0c\u5982\u679c\u5c06\u8fd9\u4e9b\u5176\u4ed6\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u53d1\u751f\u9891\u7387\u7efc\u5408\u8d77\u6765\uff0c\u5176\u603b\u548c\u5176\u5b9e\u5e76\u4e0d\u4f4e\uff0c\u800c\u4e14\u4e5f\u4f1a\u5bf9\u6bcd\u4f53\u5065\u5eb7\u4ea7\u751f\u76f4\u63a5\u5f71\u54cd\u3002\u5173\u4e8e\u8fd9\u4e9b\u5f02\u5e38\u7684\u53d1\u751f\u9891\u7387\u53ca\u5177\u4f53\u5f71\u54cd\uff0c\u7531\u4e8e\u8ba4\u8bc1\u673a\u6784\u672c\u8eab\u5e76\u4e0d\u5f00\u5c55\u76f8\u5173\u7b5b\u67e5\uff0c\u56e0\u6b64\u4ed6\u4eec\u5e76\u6ca1\u6709\u5b9e\u9645\u7684\u6570\u636e\uff08\u4e5f\u53ef\u80fd\u662f\u867d\u7136\u6709\u6570\u636e\u4f46\u672a\u5bf9\u5916\u516c\u5e03\uff09\u3002\u76f8\u6bd4\u4e4b\u4e0b\uff0cHiro Clinic \u5bf921\u300118\u300113\u53f7\u67d3\u8272\u4f53\u4ee5\u5916\u7684\u975e\u6574\u500d\u4f53\u4ee5\u53ca\u90e8\u5206\u7f3a\u5931\u548c\u90e8\u5206\u91cd\u590d\u8fdb\u884c\u4e86\u6570\u636e\u7edf\u8ba1\uff0c\u56e0\u6b64\u62e5\u6709\u5b9d\u8d35\u7684\u5b9e\u9645\u4e34\u5e8a\u6570\u636e\u3002\u63a5\u4e0b\u6765\uff0c\u6211\u4eec\u5e0c\u671b\u5c06\u8fd9\u4e9b\u6570\u636e\u4e0e\u56fd\u5916\u7684\u76f8\u5173\u7814\u7a76\u6570\u636e\u8fdb\u884c\u5bf9\u6bd4\u5206\u6790\u3002\u4ee5\u4e0b\u662f Hiro Clinic \u7b5b\u67e5\u7ed3\u679c\u7684\u8282\u9009\uff1a<\/p>\n\n\n\n<table class=\"data-stats-table\">\n  <thead>\n    <tr>\n      <th>\u6837\u672c\u6570 29270<\/th>\n      <th>\u4eba\u6570<\/th>\n      <th>\u6bd4\u4f8b<\/th>\n    <\/tr>\n  <\/thead>\n  <tbody>\n    <tr>\n      <td>13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u5f81<\/td>\n      <td>43<\/td>\n      <td>0.15%<\/td>\n    <\/tr>\n    <tr>\n      <td>\u5168\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\uff08\u966413\u300118\u300121\u53f7\u5916\uff09<\/td>\n      <td>179<\/td>\n      <td>0.59%<\/td>\n    <\/tr>\n    <tr>\n      <td>\u90e8\u5206\u7f3a\u5931\u4e0e\u90e8\u5206\u91cd\u590d<\/td>\n      <td>150<\/td>\n      <td>0.51%<\/td>\n    <\/tr>\n  <\/tbody>\n<\/table>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-global-nipt-consortium wp-block-embed-global-nipt-consortium\"><div class=\"wp-block-embed__wrapper\">\n<blockquote class=\"wp-embedded-content\" data-secret=\"5TSa09xjrO\"><a href=\"https:\/\/niptconsortium.com\/\">Home<\/a><\/blockquote><iframe loading=\"lazy\" class=\"wp-embedded-content\" sandbox=\"allow-scripts\" security=\"restricted\" style=\"position: absolute; visibility: hidden;\" title=\"&#8220;Home&#8221; &#8212; Global NIPT Consortium\" src=\"https:\/\/niptconsortium.com\/embed\/#?secret=hOOKc7Ba4h#?secret=5TSa09xjrO\" data-secret=\"5TSa09xjrO\" width=\"500\" height=\"282\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\"><\/iframe>\n<\/div><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u6211\u4eec\u8ba1\u5212\u4ece\u4e0a\u8ff0\u7f51\u7ad9\u4e2d\u83b7\u53d6\u56fd\u5916\u7684\u76f8\u5173\u4fe1\u606f\u3002\u7531\u4e8e\u8be5\u7f51\u7ad9\u4e3b\u8981\u9762\u5411\u533b\u5b66\u4e13\u5bb6\uff0c\u5145\u65a5\u7740\u5927\u91cf\u7684\u4e13\u4e1a\u672f\u8bed\uff0c\u666e\u901a\u4eba\u9605\u8bfb\u8d77\u6765\u8f83\u4e3a\u56f0\u96be\uff0c\u56e0\u6b64\u6211\u4eec\u5728\u4e0b\u9762\u8fdb\u884c\u4e86\u901a\u4fd7\u6613\u61c2\u7684\u7b80\u8981\u7ffb\u8bd1\u3002\uff08*\u867d\u7136\u8be5\u7f51\u7ad9\u4efb\u4f55\u4eba\u90fd\u53ef\u4ee5\u8bbf\u95ee\uff0c\u4f46\u56e0\u5176\u4e13\u4e1a\u6027\u8f83\u5f3a\uff0c\u7406\u89e3\u8d77\u6765\u6709\u4e00\u5b9a\u96be\u5ea6\u3002\uff09<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2460 \u9996\u5148\u662f\u9996\u9875\u7684\u5185\u5bb9\u3002\u4ee5\u4e0b\u662f\u7ffb\u8bd1\u540e\u7684\u7248\u672c\u3002\u5bf9\u4e8e\u4e0e\u6211\u4eec\u65e5\u5e38\u4f7f\u7528\u7684\u533b\u5b66\u8868\u8ff0\u6709\u6240\u4e0d\u540c\u7684\u5730\u65b9\uff0c\u6211\u4eec\u7279\u522b\u7528\u7ea2\u5b57\u8fdb\u884c\u4e86\u8865\u5145\u8bf4\u660e\u3002\u968f\u540e\uff0c\u6211\u4eec\u8fd8\u4f1a\u9644\u4e0a\u5404\u56fd\u5df2\u62a5\u544a\u7684\u6570\u636e\u6458\u8981\u3002\u65e0\u8bba\u54ea\u7ec4\u6570\u636e\uff0c\u4e0e Hiro Clinic\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u7684\u5b9e\u9645\u4e34\u5e8a\u6570\u636e\u76f8\u6bd4\uff0c\u5747\u6ca1\u6709\u660e\u663e\u7684\u5dee\u5f02\u3002<\/p>\n\n\n\n<!---<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u304c 2011 \u5e74\u306b\u521d\u3081\u3066\u5229\u7528\u53ef\u80fd\u306b\u306a\u3063\u305f\u3068\u304d\u306f\u300121 \u30c8\u30ea\u30bd\u30df\u30fc\u306b\u9650\u5b9a\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u6700\u7d42\u7684\u306b\u306f 18 \u30c8\u30ea\u30bd\u30df\u30fc\u3068 13 \u30c8\u30ea\u30bd\u30df\u30fc\u3001\u304a\u3088\u3073\u7279\u5b9a\u306e\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a> (SCA) \u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u6a5f\u80fd\u304c\u8ffd\u52a0\u3055\u308c\u307e\u3057\u305f\u3002\u305d\u308c\u4ee5\u6765\u3001\u62e1\u5f35 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u306b\u95a2\u3059\u308b 700,000 \u4ef6\u3092\u8d85\u3048\u308b\u7d50\u679c\u304c 19 \u306e\u8ad6\u6587\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<sup>1<\/sup>\u3002\u62e1\u5f35 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u306b\u3088\u308a\u3001\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc (\u67d3\u8272\u4f53 21\u300118\u3001\u304a\u3088\u3073 13 \u3092\u542b\u3080)\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u7570\u6570\u6027\u3001SCA\u3001\u304a\u3088\u3073\u5c11\u306a\u304f\u3068\u3082 5Mb \u306e CNV \u3092\u542b\u3080\u3059\u3079\u3066\u306e\u67d3\u8272\u4f53\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a><font color=\"red\">\uff1c\uff1d\u6211\u3005\u306e\u8a00\u3046<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3067\u3059\u3002<\/font>\u306e\u5305\u62ec\u7684\u306a\u30d3\u30e5\u30fc\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u96c6\u56e3\u767a\u751f\u7387\u306f\u300118 \u30c8\u30ea\u30bd\u30df\u30fc\u304a\u3088\u3073 13 \u30c8\u30ea\u30bd\u30df\u30fc\u3088\u308a\u3082\u9ad8\u3044\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u5f8c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u3001\u80ce\u5150\u306e\u767a\u80b2\u5236\u9650\u3001\u6b7b\u7523\u3001\u7247\u89aa\u30c0\u30a4\u30bd\u30df\u30fc\u304a\u3088\u3073\u95a2\u9023\u30ea\u30b9\u30af\u3001\u81ea\u7136<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u3001\u80ce\u5150\u6838\u578b\u7570\u5e38\u306a\u3069\u306e\u6709\u5bb3\u8ee2\u5e30\u306e\u30ea\u30b9\u30af\u304c\u4f34\u3044\u307e\u3059\u3002\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b\u3092\u4f34\u3046\u3002<sup>2,3,4<\/sup>\u3055\u3089\u306b\u3001\u6700\u8fd1\u306e\u51fa\u7248\u7269\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u3092 21\u300118\u300113 \u30c8\u30ea\u30bd\u30df\u30fc\u3068 \u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a> \u306b\u9650\u5b9a\u3059\u308b\u3068\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u967d\u6027\u7d50\u679c\u306e\u3046\u3061 25% \u304c\u898b\u9003\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u3002<sup>5<\/sup>\u62e1\u5f35\u3055\u308c\u305f <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u306f\u3001\u598a\u5a20\u306e\u5065\u5eb7\u3068\u7ba1\u7406\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3001\u3053\u308c\u3089\u306e\u96c6\u5408\u7684\u306b\u4e00\u822c\u7684\u306a\u75c7\u72b6\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u6a5f\u4f1a\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/p>--->\n\n\n\n<p class=\"wp-block-paragraph\"><br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u516c\u5171\u8d44\u91d1\u8d44\u52a9\u7684\u5168\u56fd\u9996\u7ebf\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u7b5b\u67e5\u7ed3\u679c<\/strong><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/niptconsortium.com\/category\/belgium\/\">\u6bd4\u5229\u65f6<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u6bd4\u5229\u65f6\u662f\u5168\u7403\u7b2c\u4e00\u4e2a\u5c06 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b\u51fa\u751f\u524d\u8bca\u65ad\uff09\u4f5c\u4e3a\u6240\u6709\u5b55\u5987\u7684\u9996\u7ebf\uff08\u4e00\u7ebf\uff09\u7b5b\u67e5\u9879\u76ee\u3001\u5e76\u5b9e\u65bd\u5168\u989d\u533b\u4fdd\u62a5\u9500\u7684\u56fd\u5bb6\u3002\u672c\u7bc7\u53d1\u8868\u7684\u6587\u732e\u62a5\u544a\u4e86\u7531\u6bd4\u5229\u65f6\u6240\u6709\u9057\u4f20\u5b66\u4e2d\u5fc3\u7ec4\u6210\u7684\u8d22\u56e2\uff08\u8054\u5408\u4f1a\uff09\uff0c\u5728\u5411\u6240\u6709\u5b55\u5987\u63d0\u4f9b\u201c\u6269\u5c55 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\u201d\u4f5c\u4e3a\u9996\u9009\u7b5b\u67e5\u65b9\u6848\u7684\u4e24\u5e74\u671f\u95f4\u6240\u79ef\u7d2f\u7684\u4e34\u5e8a\u7ecf\u9a8c\u3002\u5728\u63a5\u53d7\u7b5b\u67e5\u7684 153,575 \u4f8b\u5b55\u5987\u4e2d\uff0c\u7f55\u89c1\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u5f81\u548c\u90e8\u5206\u7f3a\u5931\/\u90e8\u5206\u91cd\u590d\u7684\u68c0\u51fa\u7387\u5206\u522b\u4e3a 0.23% \u548c 0.07%\u3002\u4e0e\u6b64\u540c\u65f6\uff0c\u4fb5\u5165\u6027\u4ea7\u524d\u8bca\u65ad\u624b\u672f\uff08\u5982\u7f8a\u6c34\u7a7f\u523a\u7b49\uff09\u7684\u6570\u91cf\u5927\u5e45\u51cf\u5c11\u4e86 52%\u3002\u4f5c\u8005\u603b\u7ed3\u8ba4\u4e3a\uff0c\u6269\u5c55 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u65b9\u6848\u5df2\u6210\u529f\u878d\u5165\u6bd4\u5229\u65f6\u7684\u4ea7\u524d\u4fdd\u5065\u4f53\u7cfb\uff0c\u5e76\u53ef\u4f5c\u4e3a\u5176\u4ed6\u63d0\u4f9b <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7b5b\u67e5\u56fd\u5bb6\u7684\u53c2\u8003\u6846\u67b6\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u2462 \u8377\u5170<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5929118\/pdf\/gim2017132a.pdf\">\u5168\u57fa\u56e0\u7ec4 NIPS \u68c0\u51fa\u7684\u5e38\u89c1\u4e09\u4f53\u7efc\u5408\u5f81\u5916\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u6765\u6e90\u53ca\u4e34\u5e8a\u76f8\u5173\u6027\uff1aTRIDENT \u7814\u7a76\u7ed3\u679c<\/a><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/niptconsortium.com\/category\/netherlands\/\">\u8377\u5170<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u672c\u7bc7\u53d1\u8868\u7684\u6587\u732e\u8bc1\u5b9e\u4e86\u5229\u7528\u201c\u6269\u5c55 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\u201d\u68c0\u6d4b\u5e38\u89c1\u975e\u6574\u500d\u4f53\u4ee5\u5916\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u6240\u5177\u6709\u7684\u6f5c\u5728\u4e34\u5e8a\u5e94\u7528\u4ef7\u503c\u3002\u5728\u8be5\u7814\u7a76\u7fa4\u4f53\u4e2d\uff0c\u63a5\u53d7\u6269\u5c55 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u75c5\u4f8b\u4e2d\u6709 1.6% \u7b5b\u67e5\u7ed3\u679c\u5448\u9633\u6027\uff0c\u63d0\u793a\u5b58\u5728\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u5f81\u6216\u8f83\u5927\u7684\u90e8\u5206\u7f3a\u5931\/\u90e8\u5206\u91cd\u590d\u7b49\u7f55\u89c1\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u5728\u8fd9\u4e9b\u9633\u6027\u75c5\u4f8b\u4e2d\uff0c\u6709 60% \u4e0e\u4e0d\u826f\u598a\u5a20\u7ed3\u5c40\u5bc6\u5207\u76f8\u5173\uff0c\u5305\u62ec\u80ce\u513f\u8868\u578b\u5f02\u5e38\u4ee5\u53ca\u5b50\u5bab\u5185\u53d1\u80b2\u8fdf\u7f13\uff08IUGR\uff09\u7b49\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2463\u7f8e\u56fd<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8486654\/pdf\/41436_2021_Article_1227.pdf\">\u5168\u57fa\u56e0\u7ec4\u65e0\u7ec6\u80de DNA \u7b5b\u67e5\uff1a\u805a\u7126\u62f7\u8d1d\u6570\u53d8\u5f02<\/a><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/niptconsortium.com\/category\/united-states\/\">\u7f8e\u56fd<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u672c\u7bc7\u53d1\u8868\u7684\u6587\u732e\u5728 86,902 \u4f8b\u6269\u5c55 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u6837\u672c\u7684\u961f\u5217\u4e2d\uff0c\u91cd\u70b9\u5206\u6790\u4e86\u81f3\u5c11\u68c0\u51fa\u4e00\u79cd\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\/\u90e8\u5206\u91cd\u590d\u4e14\u7b5b\u67e5\u7ed3\u679c\u5448\u9633\u6027\u7684 490 \u4f8b\uff080.56%\uff09\u75c5\u4f8b\u3002\u7814\u7a76\u8868\u660e\uff0c\u5728\u8fd9\u4e9b\u75c5\u4f8b\u4e2d\uff0c\u6709 50% \u83b7\u5f97\u4e86\u786e\u8bca\u7ed3\u679c\uff0c\u5176\u9633\u6027\u9884\u6d4b\u503c\uff08PPV\uff09\u8d85\u8fc7\u4e86 70%\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2464\u4e2d\u56fd<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30828085\/\">\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u7b5b\u67e5\u5728\u6269\u5927\u67d3\u8272\u4f53\u75be\u75c5\u7efc\u5408\u5f81\u4e2d\u7684\u4e34\u5e8a\u5e94\u7528\u4ef7\u503c<\/a><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/niptconsortium.com\/category\/china-hong-kong\/\">\u4e2d\u56fd\/\u9999\u6e2f<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u672c\u7bc7\u53d1\u8868\u7684\u6587\u732e\u9a8c\u8bc1\u4e86\u201c\u6269\u5c55 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\u201d\u5728\u5168\u98ce\u9669\uff08\u5168\u975e\u9009\u62e9\u6027\uff09\u5b55\u5987\u7fa4\u4f53\u4e2d\uff0c\u5bf9\u975e\u6574\u500d\u4f53\u4ee5\u53ca\u5168\u57fa\u56e0\u7ec4\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\u7684\u4e34\u5e8a\u7b5b\u67e5\u8868\u73b0\u3002\u8be5\u7814\u7a76\u524d\u77bb\u6027\u5730\u7eb3\u5165\u4e86 94,085 \u4f8b\u5355\u80ce\u598a\u5a20\u60a3\u8005\u961f\u5217\u3002\u7ed3\u679c\u663e\u793a\uff0c\u8be5\u6269\u5c55 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5728 1.2% \u7684\u6837\u672c\u4e2d\u68c0\u51fa\u4e86\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u5e76\u5bf9\u5404\u9879\u7b5b\u67e5\u9633\u6027\u5f02\u5e38\u7684\u9633\u6027\u9884\u6d4b\u503c\uff08PPV\uff09\u8fdb\u884c\u4e86\u5206\u522b\u8ba1\u7b97\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u4ec0\u4e48\u662f NIPTy Standard\uff1f &#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/zh-hans\/nipt\/partialdeletions\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"parent":38182,"menu_order":115,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-15433","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/15433","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=15433"}],"version-history":[{"count":37,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/15433\/revisions"}],"predecessor-version":[{"id":131295,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/15433\/revisions\/131295"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/38182"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=15433"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}