{"id":31615,"date":"2018-11-14T12:22:04","date_gmt":"2018-11-14T03:22:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/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\/nipt\/partialdeletions\/?lang=en","title":{"rendered":"What is all autosomal whole region partial deletion\/duplication syndrome?"},"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-en.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\">NIPTy Standard\u3063\u3066\u306a\u306b\uff1f<\/h2>\n<p class=\"bordered-highlight\">NIPTy Standard\u3067\u306f\u3001\u5e38\u67d3\u8272\u4f5344\u672c\u306e\u3069\u306e\u90e8\u4f4d\u306e\u6b20\u5931\u30fb\u91cd\u8907\u3082\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u305d\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u7121\u9650\u5927\u3067\u3059\u3002<\/p>\n<p>\u3053\u306e\u691c\u67fb\u3067\u306f\u3001\u6b20\u5931\u30fb\u91cd\u8907\u304c\u3069\u306e\u90e8\u4f4d\u306b\u3042\u308b\u304b\u3092\u7279\u5b9a\u3057\u3001\u75be\u60a3\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u8abf\u3079\u307e\u3059\u3002\u4e0b\u90e8\u306b\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u4ee3\u8868\u7684\u306a\u7d44\u307f\u5408\u308f\u305b\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5b9f\u969b\u306e\u6b20\u5931\u30fb\u91cd\u8907\u306e\u7d44\u307f\u5408\u308f\u305b\u6570\u306f\u7121\u9650\u5927\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u6b20\u5931\u30fb\u91cd\u8907\u306e\u90e8\u4f4d\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u540c\u3058\u90e8\u4f4d\u3092\u518d\u691c\u67fb\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\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\/2025\/01\/img-nipt-pd-chihiro.webp\" alt=\"\">\n  <\/div> -->\n  <div class=\"special-imgbox\">\n   <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/img-nipt-pd-list-en.webp\" alt=\"\">\n  <\/div>\n <\/div>\n<\/div>\n\n<div class=\"pink-special-group\">\n <h3 class=\"bordered-ttl\">Available Plans for This Screening<\/h3>\n <div class=\"special-btnrow\">\n\n  <div class=\"special-btn type-01\">\n   <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/premium\/?lang=en\">\n    <span class=\"btn-maintext\">NIPTy<br>MHLW-Designated Intractable Disease Plan<br>\u300aPremium\u300b<\/span>\n   <\/a>\n  <\/div>\n\n  <div class=\"special-btn type-02\">\n   <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/standard\/?lang=en\">\n    <span class=\"btn-maintext\">NIPTy<br>MHLW-Designated Intractable Disease Plan<\/span>\n   <\/a>\n  <\/div>\n\n  <div class=\"special-btn type-03\">\n   <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/mini\/?lang=en\">\n    <span class=\"btn-maintext\">NIPTy<br>Lite Plan<\/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\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\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\">\u6599\u91d1\u8868\u306f\u3053\u3061\u3089<\/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=\"\">\n <\/label>\n\n <div class=\"toggle-content\">\n\n\n\n<h3 class=\"t-f\">\u77e5\u7684\u969c\u304c\u3044\u30d5\u30eb<\/h3>\n<div class=\"plan-table p-full\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/premium\/?lang=en\"><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\/plan\/premium\/?lang=en\"><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\">\u77e5\u7684\u969c\u304c\u3044\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9<\/h3>\n<div class=\"plan-table p-standard\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/premium\/?lang=en\"><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\/plan\/standard\/?lang=en\"><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\/plan\/standard\/?lang=en\"><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\/plan\/standard\/?lang=en\"><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\/plan\/standard\/?lang=en\"><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\">\u77e5\u7684\u969c\u304c\u3044\u30ef\u30a4\u30c9<\/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\">\u30d9\u30fc\u30b7\u30c3\u30af<\/h3>\n<div class=\"plan-table p-basic\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/basic\/?lang=en\"><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\/plan\/basic\/?lang=en\"><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\">\u8a8d\u8a3c\u65bd\u8a2d<\/h3>\n<div class=\"plan-table p-basic\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/basic\/?lang=en\" class=\"nin\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/b-o-box-1.webp\" alt=\"\u8a8d\u8a3c\u65bd\u8a2d\"><\/a>\n<h3 class=\"t-d\">\u30c0\u30a6\u30f3\u75c7<\/h3>\n<div class=\"plan-table p-basic\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/basic\/?lang=en\"><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>The next-generation sequencers (NGS) at the Tokyo Clinical Laboratory, where Hiro Clinic entrusts its testing, report copy number variants as a screening result when a deletion or duplication of 5 million base pairs (5 Mb) or more is detected.<\/p>\n <p>While microdeletion syndromes can manifest symptoms even with deletions of around 1 million to 5 million base pairs, some cases can involve larger losses exceeding 5 million base pairs. Even if a deletion is larger than the specific region typically associated with a particular disorder, it still causes the loss of the essential genes involved, which can lead to identical or more severe clinical symptoms. For this reason, if the missing section encompasses the disease-specific region, we believe it is appropriate to apply the same diagnosis regardless of how extensive the deletion is. To avoid the potential misunderstanding that comes with the term &#8220;microdeletion,&#8221; our website instead refers to these conditions as &#8220;partial deletion disorders.&#8221;<\/p>\n <p>Deletions and duplications trigger various symptoms depending on the specific functions of the genes located in those regions. For example, the loss of a chromosome segment containing a gene responsible for producing a specific enzyme leads to an enzyme deficiency, while a duplication of a segment containing genes involved in bone formation can result in skeletal abnormalities.<\/p>\n <p>Traditionally, chromosomal deletions and duplications were identified under a microscope using karyotype staining, a method capable of detecting variations only when they exceeded 10 million base pairs (10 Mb). In recent years, the adoption of next-generation sequencing and chromosomal microarray testing has significantly enhanced testing resolution. This has revealed that deletions and duplications are not restricted to specific chromosomes but can occur across all chromosomes. Consequently, numerous associations between deletions or duplications and their corresponding clinical findings have been reported, allowing the atypical genetic data to be compiled into databases. These databases contain multiple case reports linked by shared atypical regions and characteristic features, including rare or newly documented cases.<\/p>\n <p>Therefore, when a deletion or duplication that has not been classified as an independent disease is detected, it is necessary to cross-reference case reports and genomic databases to investigate potential symptoms. When a partial chromosomal deletion or duplication is found, the Tokyo Clinical Laboratory searches highly reliable domestic and international databases to provide relevant clinical information to the attending physician.<\/p>\n <p>The precise correlation between all duplication regions and their clinical outcomes is not yet fully understood. Furthermore, the presence of a deletion or duplication does not always lead to apparent symptoms. This can happen if the altered region lacks critical genes involved in vital functions or body development, or if the genes present simply do not generate pathological effects. For instance, a duplication on the short arm of chromosome 8 (8p23.2) spanning 2.5 million base pairs (2.5 Mb) contains only tumor suppressor genes; as a result, it produces no atypical findings and is understood to be a benign normal variant.<\/p>\n <p>When a deletion or duplication is identified, its pathological significance must be carefully evaluated. Please understand that evaluating cases that have never been reported before can be challenging, and some results may be categorized as a variant of unknown significance (VUS), where the correlation with clinical symptoms remains unclear.<\/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\">Unnamed Cases<\/h3>\n\n\n\n<p>This is an example of a paper on a recently reported case involving a full chromosome partial deletion\/duplication condition.<\/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>Chromosome<\/th>\n<th>Chromosomal Locus<\/th>\n<th>Paper<\/th>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-02\">Chromosome 2<\/a><\/th>\n<td>2p16.3-p21<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/?lang=en\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> Contiguous Gene Deletion on Chromosome 2 (2p16.3-p21): As a Cause of Lynch Syndrome<\/a> (Translation)<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#sd-c-07\">Chromosome 7<\/a><\/th>\n<td>7q21.3-q31.1<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=en\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> Partial Duplication of Chromosome 7 (7q21.3-q31.1): A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases Involving Distal and Similar Segments<\/a> (Translation)<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-12\">Chromosome 12<\/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> Autism Associated with Partial Deletion of Chromosome 12 (12q24.31-q24.33): Additional Report of an Extremely Rare Condition<\/a> (Translation)<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#sd-c-14\">Chromosome 14<\/a><\/th>\n<td>14q<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=en\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> Partial Duplications of Distal 14q<\/a> (Translation)<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-19\">Chromosome 19<\/a><\/th>\n<td>19p13.13<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=en\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> Novel Microdeletion\/Microduplication Syndrome of Chromosome 19 (19p13.13)<\/a> (Translation)<\/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\">Reported Cases of Full Chromosome Partial Deletions \/ Duplications<\/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>Chromosome Deletion<\/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>Chromosome<\/th>\n <th>Deletion Site<\/th>\n <th>Syndrome<\/th>\n <th>Remarks<\/th>\n <\/tr>\n <tr>\n<th rowspan=\"3\"><a href=\"#pd-c-01\">Chromosome 1<\/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\">Alagille Syndrome<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td class=\"back_five\">1q21.1<\/td>\n<td>1q21.1 Microdeletion Syndrome<\/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 Deletion Syndrome<\/a><\/td>\n<td>Incidence: 1 in 4,000 to 10,000 live births.<br>\nSymptoms include growth restriction, severe intellectual disability, and intractable epilepsy.<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"3\"><a href=\"#pd-c-02\">Chromosome 2<\/a><\/th>\n<td>2q13<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_08_028\/\" target=\"_blank\" rel=\"noopener noreferrer\">Nephronophthisis Type 1<\/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\">Holoprosencephaly<\/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\">Albright Hereditary Osteodystrophy-Like Brachydactyly<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-03\">Chromosome 3<\/a><\/th>\n<td>3q29<\/td>\n<td>3q29 Microdeletion Syndrome<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-04\">Chromosome 4<\/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\">Wolf-Hirschhorn Syndrome<\/a><\/td>\n<td>Incidence: 1 in 50,000 live births.<br>\nSevere developmental delays, growth restriction, intractable epilepsy, and multiple congenital anomalies.<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"3\"><a href=\"#pd-c-05\">Chromosome 5<\/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\">Cornelia de Lange Syndrome<\/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\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=en\">Cri-du-Chat (Cat Cry) Syndrome<\/a><\/td>\n<td>Incidence: 1 in 20,000 to 50,000 live births.<br>\nLow birth weight, growth restriction, a high-pitched mewing cry resembling a cat, distinctive facial features, hypotonia, and psychomotor delays.<br>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=en\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> Chromosome 5 Partial Deletion: High-Resolution Mapping in Cri-du-Chat Syndrome<\/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\">Sotos Syndrome<\/a><\/td>\n<td>Certain variations in symptoms have been noted between deletion and duplication types.<br>\nIncidence: 1 in 14,000 live births.<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"5\"><a href=\"#pd-c-07\">Chromosome 7<\/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\">Williams Syndrome<\/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\">Pallister-Hall Syndrome<\/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\">Greig Cephalopolysyndactyly Syndrome<\/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\/saethre-chotzen-syndrome\/?lang=en\" target=\"_blank\" rel=\"noopener noreferrer\">Saethre-Chotzen Syndrome<\/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\">Holoprosencephaly Type 3<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"4\"><a href=\"#pd-c-08\">Chromosome 8<\/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\">CHARGE Syndrome<\/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 Microdeletion Syndrome<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>8q23.3<\/td>\n<td>Trichorhinophalangeal Syndrome Type I<\/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\">Langer-Giedion Syndrome<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"2\"><a href=\"#pd-c-11\">Chromosome 11<\/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\">Potocki-Shaffer Syndrome<\/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 Syndrome<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-12\">Chromosome 12<\/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\">Noonan Syndrome<\/a><\/td>\n<td>1 case report of duplication and 1 case report of deletion involving RAF1.<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"2\"><a href=\"#pd-c-13\">Chromosome 13<\/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\">Retinoblastoma<\/a> \/ Developmental Delay<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>13q32.3<\/td>\n<td>Holoprosencephaly Type 5<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"2\"><a href=\"#pd-c-15\">Chromosome 15<\/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\">Prader-Willi Syndrome<\/a><\/td>\n<td>Caused by the deletion of paternally inherited genes in a region where maternal genes are silenced.<br>\nIncidence: 1 in 10,000 to 25,000 live births.<br>\nHypotonia, hypopigmentation, and hypogonadism.<\/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\">Angelman Syndrome<\/a><\/td>\n<td>Caused by loss of function of the UBE3A gene.<br>\nIncidence: 1 in 12,000 live births.<br>\nSevere developmental delays, epilepsy, ataxia\/gait impairment, behavioral variations, sleep disturbances, hypopigmentation, and distinctive facial features.<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"3\"><a href=\"#pd-c-16\">Chromosome 16<\/a><\/th>\n<td>16p11.2<\/td>\n<td>16p11.2 Microdeletion<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<td>16p13.11<\/td>\n<td>16p13.1 Microdeletion<\/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\">Rubinstein-Taybi Syndrome<\/a><\/td>\n<td>Incidence: 1 in 125,000 live births.<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"3\"><a href=\"#pd-c-17\">Chromosome 17<\/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\">Miller-Dieker Syndrome<\/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\">Smith-Magenis Syndrome<\/a><\/td>\n<td>Incidence: 1 in 15,000 to 25,000 live births.<\/td>\n<\/tr>\n<tr>\n<td>17q11.2<\/td>\n<td>Neurofibromatosis Type 1<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th><a href=\"#pd-c-20\">Chromosome 20<\/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\">Alagille Syndrome<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"2\"><a href=\"#pd-c-22\">Chromosome 22<\/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\">DiGeorge Syndrome Type 2<\/a><br>\n<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5317\" target=\"_blank\" rel=\"noopener noreferrer\">22q11.2 Deletion Syndrome<\/a><\/td>\n<td>Incidence: 1 in 4,000 live births.<br>\nCongenital heart defects, developmental delays, distinctive facial features, immune system deficiencies, cleft palate\/velopharyngeal insufficiency, a nasal voice, and hypocalcemia.<\/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\">Phelan-McDermid Syndrome<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">Scroll horizontally to view<\/p>\n<p class=\"table-note\"><span>*These reported cases represent only a segment of partial deletions.<\/span><br>The next-generation sequencers used at the Tokyo Clinical Laboratory cannot detect deletions or duplications smaller than 5 million base pairs (5 Mb).<br>Consequently, this screening may not detect all cases associated with these syndromes.<\/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>Chromosome Duplication<\/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>Chromosome<\/th>\n        <th>Duplication Site<\/th>\n        <th>Syndrome<\/th>\n        <th>Remarks<\/th>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-01\">Chromosome 1<\/a><\/th>\n        <td class=\"back_five\">1q21.1<\/td>\n        <td>1q21.1 Microduplication Syndrome<\/td>\n        <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/?lang=en\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 1q21.1 Partial Duplication<\/a> (Translation)<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-02\">Chromosome 2<\/a><\/th>\n        <td>2p21<\/td>\n        <td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_03_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">Holoprosencephaly<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-03\">Chromosome 3<\/a><\/th>\n        <td>3q29<\/td>\n        <td>3q29 Microduplication Syndrome<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"2\"><a href=\"#sd-c-05\">Chromosome 5<\/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\">Cornelia de Lange Syndrome<\/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\">Sotos Syndrome<\/a><\/td>\n        <td>Certain variations in symptoms have been noted between deletion and duplication types.<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-08\">Chromosome 8<\/a><\/th>\n        <td>8p23.1<\/td>\n        <td><a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37120\">8p23.1 Microduplication Syndrome<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-09\">Chromosome 9<\/a><\/th>\n        <td>9q34.13<\/td>\n        <td>Tuberous Sclerosis Type 1<\/td>\n        <td>Caused by variations in the TSC1 gene.<br>\n          Prevalence: 1 in 5,800 individuals.<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-10\">Chromosome 10<\/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\">Chromosome 10q24 Duplication Syndrome<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-11\">Chromosome 11<\/a><\/th>\n        <td>11p13<\/td>\n        <td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5452\" target=\"_blank\" rel=\"noopener noreferrer\">WAGR Syndrome<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-12\">Chromosome 12<\/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\">Noonan Syndrome<\/a><\/td>\n        <td>1 case report of duplication and 1 case report of deletion involving RAF1.<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-13\">Chromosome 13<\/a><\/th>\n        <td>13q32.3<\/td>\n        <td>Holoprosencephaly Type 5<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th><a href=\"#sd-c-15\">Chromosome 15<\/a><\/th>\n        <td class=\"back_five\">15q26qter<\/td>\n        <td>Overgrowth \/ Intellectual Disability<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"4\"><a href=\"#sd-c-16\">Chromosome 16<\/a><\/th>\n        <td>16p11.2<\/td>\n        <td>16p11.2 Microduplication<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <td>16p13.3<\/td>\n        <td>Tuberous Sclerosis Type 2<\/td>\n        <td>Caused by variations in the TSC2 gene.<br>\n          Prevalence: 1 in 5,800 individuals.<\/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\">Rubinstein-Taybi Syndrome<\/a><\/td>\n        <td>Caused by variations in the CREBBP gene.<br>\n          Incidence: 1 in 125,000 live births.<\/td>\n      <\/tr>\n      <tr>\n        <td>16p13.11<\/td>\n        <td>16p13.1 Microduplication<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"3\"><a href=\"#sd-c-17\">Chromosome 17<\/a><\/th>\n        <td>17p11.2<\/td>\n        <td>Potocki-Lupski Syndrome<\/td>\n        <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=en\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> Chromosome 17 (17p11.2) Partial Duplication: Duplication in a Child with Developmental Delay<\/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\">Charcot-Marie-Tooth Disease Type 1A<\/a><\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <td>17q21.31b<\/td>\n        <td>17q21.31 Microduplication Syndrome<\/td>\n        <td>&nbsp;<\/td>\n      <\/tr>\n      <tr>\n        <th rowspan=\"2\"><a href=\"#sd-c-22\">Chromosome 22<\/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\">Cat Eye Syndrome<\/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\" target=\"_blank\" rel=\"noopener noreferrer\">22q11.2 Duplication Syndrome<\/a><\/td>\n        <td>Congenital heart defects, developmental delays, distinctive facial features, immune system deficiencies, cleft palate\/velopharyngeal insufficiency, a nasal voice, and hypocalcemia.<\/td>\n      <\/tr>\n    <\/tbody>\n  <\/table>\n  <p class=\"can_slide\">Scroll horizontally to view<\/p>\n  <p class=\"table-note\"><span>*These reported cases represent only a segment of partial deletions and duplications.<\/span><br>The next-generation sequencers used at the Tokyo Clinical Laboratory cannot detect deletions or duplications smaller than 5 million base pairs (5 Mb).<br>Consequently, this screening may not detect all cases associated with these syndromes.<\/p>\n<\/div>\n<\/div>\n\n<\/div>\n<\/div><\/div>\n\n\n\n<h3>Chromosome 1<\/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>Partial Deletion of Chromosome 1<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p>In <strong>partial deletions<\/strong>, essential genes located within a specific region of a chromosome are lost, which can lead to developmental disorders and specific genetic syndromes.<\/p>\n    \n   <p class=\"text-subtitle\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a deletion on the short arm of chromosome 1 at the <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> position.<\/li>\n   <li><strong>Symptoms:<\/strong> Commonly includes intellectual disabilities, developmental delays, muscle weakness (hypotonia), behavioral challenges, cardiac anomalies, and distinctive facial features (such as a prominent forehead and deep-set eyes). Seizures and hearing impairment may also occur.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">1q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Caused by a deletion on the long arm of chromosome 1 (1q).<\/li>\n   <li><strong>Symptoms:<\/strong> Can manifest as intellectual disabilities, developmental delays, atypical facial features, and cardiovascular or renal anomalies. Muscle weakness and epilepsy have also been documented.<\/li>\n   <\/ul>\n\n   <p>1q21.1 Deletion Syndrome: A deletion in the 21.1 region of the long arm (q) of chromosome 1 elevates the risk for congenital heart defects, intellectual and developmental delays, and autism spectrum disorders.<\/p>\n   <p class=\"mb-0\">1q42.13 Deletion Syndrome (A syndrome caused by a deletion in the 42.13 region of the long arm of chromosome 1)<\/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>Partial Duplication of Chromosome 1<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n    <p>In <strong>partial duplications<\/strong>, an excess of genes is present within a specific region of a chromosome, which can lead to complications in health and development.<\/p>\n\n    <p class=\"text-subtitle\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> Duplication Syndrome<\/p>\n    <ul>\n    <li><strong>Cause:<\/strong> Occurs when genetic material in the <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> region is duplicated, leading to an overexpression of those genes.<\/li>\n    <li><strong>Symptoms:<\/strong> While presentation varies depending on the precise location and size of the duplication, it commonly features developmental delays, intellectual disabilities, and distinctive facial features. Congenital heart defects, muscle weakness, and behavioral variations (such as autistic traits) have also been reported.<\/li>\n    <\/ul>\n\n    <p class=\"text-subtitle\">1q Duplication Syndrome<\/p>\n    <ul>\n    <li><strong>Cause:<\/strong> Caused by a duplication on the long arm of chromosome 1 (1q), resulting in an excess copy of specific genes.<\/li>\n    <li><strong>Symptoms:<\/strong> Can manifest as intellectual disabilities, developmental delays, structural anomalies (such as cardiac or renal defects), and muscle weakness. The severity of these symptoms often depends on the exact position of the duplication.<\/li>\n    <\/ul>\n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 2<\/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>Partial Deletion of Chromosome 2<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 2<\/strong> involves the loss of a segment of the chromosome, leading to a deficiency of crucial genes and resulting in developmental and physical challenges. Below are syndromes associated with specific partial deletions.<\/p>\n    \n   <p class=\"text-subtitle\">2q37 Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a deletion in the 37 region of the long arm (2q) of chromosome 2.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented symptoms include intellectual disabilities, behavioral challenges, developmental delays, skeletal variations (such as short fingers), obesity, and cardiac anomalies. There is also an elevated risk for autism spectrum disorders.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">2p16.3 Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Caused by a deletion in the 16.3 region of the short arm (2p) of chromosome 2.<\/li>\n   <li><strong>Symptoms:<\/strong> Characteristics include intellectual disabilities, developmental delays, delayed speech acquisition, and atypical facial features (such as a broad forehead or a small jaw). Behavioral anomalies and learning difficulties are also observed.<\/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>Partial Duplication of Chromosome 2<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 2<\/strong>, the presence of excess copies of specific genes can lead to various health and developmental issues. Below are syndromes associated with these partial duplications.<\/p>\n    \n   <p class=\"text-subtitle\">2q13 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when the 13 region of the long arm (2q) of chromosome 2 is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> May cause developmental delays, intellectual disabilities, autism spectrum disorders, and atypical facial features. Depending on the exact size of the duplicated region, cardiovascular or renal anomalies may also be present.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">2q23.1 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a duplication in the 2q23.1 region.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include intellectual disabilities, developmental delays, muscle weakness, distinctive facial structures, behavioral challenges, and sleep disturbances.<\/li>\n   <\/ul>\n\n   <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 3<\/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>Partial Deletion of Chromosome 3<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p>In a <strong>partial deletion<\/strong>, a specific segment of a chromosome is missing. As a result, the genes located within that region fail to function, which can lead to various health complications.<\/p>\n    \n   <p class=\"text-subtitle\">3p Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the short arm of chromosome 3 (3p).<\/li>\n   <li><strong>Symptoms:<\/strong> Documented symptoms include intellectual disabilities, developmental delays, muscle weakness, distinctive facial anomalies, and cardiac issues. Epilepsy and autism spectrum disorders may also be present.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">3q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops when a segment of the long arm of chromosome 3 (3q) is missing.<\/li>\n   <li><strong>Symptoms:<\/strong> Characteristics include intellectual disabilities, motor developmental delays, specific structural variations (such as atypical facial features or limb malformations), and cardiovascular or renal anomalies.<\/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>Partial Duplication of Chromosome 3<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication<\/strong>, a specific segment of a chromosome is repeated, leading to an overexpression of genes that can cause developmental and health anomalies.<\/p>\n    \n   <p class=\"text-subtitle\">3q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a duplication on the long arm of chromosome 3 (3q).<\/li>\n   <li><strong>Symptoms:<\/strong> Commonly characterized by intellectual disabilities, developmental delays, distinctive facial features, and cardiovascular or renal anomalies. Behavioral challenges and epilepsy have also been reported.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 4<\/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>Partial Deletion of Chromosome 4<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n   <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 4<\/strong> occurs when a segment of the chromosome is missing, which can lead to developmental disorders and structural anomalies.<\/p>\n    \n   <p class=\"text-subtitle\">4p Deletion Syndrome (Wolf-Hirschhorn Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the short arm of chromosome 4 (4p).<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by severe intellectual disabilities, developmental delays, short stature, distinctive facial features (often referred to as a &#8220;Greek warrior helmet&#8221; appearance), seizures, congenital heart defects, and muscle weakness. This condition is recognized as a rare genetic disorder.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">4q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Caused by a partial deletion on the long arm of chromosome 4 (4q).<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include developmental delays, intellectual disabilities, cardiovascular and renal anomalies, and atypical facial features. Muscle weakness and delayed motor development may also be present.<\/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>Partial Duplication of Chromosome 4<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 4<\/strong> means that a specific genetic region is present in excess copies. This leads to genetic overexpression, which can cause anomalies in development and health.<\/p>\n    \n   <p class=\"text-subtitle\">4p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a duplication on the short arm of chromosome 4 (4p).<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include developmental delays, intellectual disabilities, muscle weakness, and distinctive facial structures. Behavioral challenges and autism spectrum disorders are also observed.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">4q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a duplication on the long arm of chromosome 4 (4q).<\/li>\n   <li><strong>Symptoms:<\/strong> May cause intellectual disabilities, developmental delays, atypical facial features, cardiovascular and renal anomalies, and delayed motor skills.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 5<\/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>Partial Deletion of Chromosome 5<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion<\/strong> occurs when a segment of a chromosome is missing, causing crucial genes to become non-functional, which can adversely affect health and development.<\/p>\n    \n   <p class=\"text-subtitle\">5p Deletion Syndrome (Cri-du-Chat Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the short arm of chromosome 5 (5p). This condition is also known as &#8220;Cat Cry Syndrome,&#8221; as newborns frequently exhibit a distinctive high-pitched cry that resembles a cat mewing.<\/li>\n   <li><strong>Symptoms:<\/strong> Includes intellectual disabilities, developmental delays, muscle weakness, distinctive facial features (such as a small jaw, wide nasal bridge, and downward-slanting eyes), low birth weight, and behavioral challenges. In severe cases, congenital heart defects or respiratory complications may be observed.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">5q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> A hematologic condition triggered by a deletion on the long arm of chromosome 5 (5q). This specific abnormality is closely associated with Myelodysplastic Syndromes (MDS) and can cause defects in blood-forming cells in the bone marrow.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include anemia, bone marrow failure, fatigue, and immune system irregularities. 5q deletion syndrome tends to be more commonly diagnosed in adult females.<\/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>Partial Duplication of Chromosome 5<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication<\/strong> occurs when a segment of a chromosome is repeated, resulting in an excess of genetic material that can impact health and development.<\/p>\n    \n   <p class=\"text-subtitle\">5q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a partial duplication on the long arm of chromosome 5 (5q).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, delayed motor development, muscle weakness, distinctive facial features, behavioral challenges, and cardiovascular or renal anomalies.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 6<\/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>Partial Deletion of Chromosome 6<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 6<\/strong> involves the loss of genes in that region, which can lead to various health complications. In particular, chromosome 6 contains the <strong>Human Leukocyte Antigen (HLA)<\/strong> gene complex, which plays a vital role in the body&#8217;s immune response.<\/p>\n    \n   <p class=\"text-subtitle\">6p Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the short arm of chromosome 6 (6p).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, muscle hypotonia, behavioral challenges, and irregularities in the immune system. Structural variations, such as atypical facial or limb features, have also been reported.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">6q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops when a segment of the long arm of chromosome 6 (6q) is missing.<\/li>\n   <li><strong>Symptoms:<\/strong> May cause growth restriction, intellectual disabilities, structural anomalies (especially affecting the heart or kidneys), and an increased risk for behavioral variations or autism spectrum disorders.<\/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>Partial Duplication of Chromosome 6<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 6<\/strong>, the presence of excess genetic material causes gene overexpression, which can lead to anomalies in development and health.<\/p>\n    \n   <p class=\"text-subtitle\">6q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops when a segment of the long arm of chromosome 6 (6q) is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with developmental delays, intellectual disabilities, cardiovascular anomalies, and an elevated risk for autism spectrum disorders.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 7<\/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>Partial Deletion of Chromosome 7<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 7<\/strong> involves the loss of a segment of genetic material, which can cause various health complications. The following syndromes are particularly well-documented.<\/p>\n    \n   <p class=\"text-subtitle\">Williams Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Primarily caused by a deletion of the <strong>ELN (elastin) gene<\/strong> located on the long arm of chromosome 7 at the 7q11.23 region.<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by intellectual disabilities, cardiovascular issues (particularly supravalvular aortic stenosis), distinctive facial features (such as a small upturned nose and a wide mouth), and a highly social, friendly personality. Developmental delays and learning difficulties can also be present.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">7q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a partial deletion on the long arm (q) of chromosome 7.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include intellectual disabilities, developmental delays, facial variations (such as widely spaced eyes), growth restriction, and cardiovascular or renal complications.<\/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>Partial Duplication of Chromosome 7<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 7<\/strong>, the presence of excess copies of specific genes can impact health and development. The following conditions and symptoms may be observed.<\/p>\n    \n   <p class=\"text-subtitle\">7q11.23 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a duplication in the same region (7q11.23) that is missing in Williams syndrome, making it the genetic counterpart (reciprocal condition) to Williams syndrome.<\/li>\n   <li><strong>Symptoms:<\/strong> Primary characteristics include autism spectrum disorders (ASD), developmental delays, speech and language delays, and learning difficulties. Behavioral challenges and sensory sensitivities have also been reported.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">7p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a duplication on the short arm (p) of chromosome 7.<\/li>\n   <li><strong>Symptoms:<\/strong> May cause developmental delays, intellectual disabilities, atypical facial features, and cardiovascular or gastrointestinal complications. Behavioral variations and sleep disturbances have also been documented.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 8 \u2192 See Poster<\/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>Partial Deletion of Chromosome 8<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 8<\/strong> occurs when a segment of the chromosome is missing, which can lead to developmental disorders and structural anomalies. Below are representative syndromes associated with deletions on chromosome 8.<\/p>\n    \n   <p class=\"text-subtitle\">8p Deletion Syndrome (8p Microdeletion Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the short arm of chromosome 8 (8p).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, atypical facial features, congenital heart defects, and motor coordination challenges. Speech and language delays as well as behavioral variations have also been reported.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by the deletion of the TRPS1 and EXT1 genes located on the long arm of chromosome 8 (8q).<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by intellectual disabilities, distinctive facial features, skeletal anomalies (particularly growth restriction in the fingers and bone abnormalities like multiple exostoses), and alopecia (hypotrichosis\/sparse hair).<\/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>Partial Duplication of Chromosome 8<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 8<\/strong>, the presence of excess copies of specific genes can lead to developmental and health anomalies.<\/p>\n    \n   <p class=\"text-subtitle\">8p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a duplication on the short arm of chromosome 8 (8p).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, atypical facial features, cardiovascular anomalies, and behavioral variations such as autism spectrum disorders (ASD). The severity of symptoms depends on the size of the duplicated region.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">8q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a duplication on the long arm of chromosome 8 (8q).<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include intellectual disabilities, developmental delays, distinctive facial features, motor coordination challenges, and cardiovascular anomalies. Behavioral challenges and learning difficulties are also observed.<\/li>\n   <\/ul>\n   \n   <p>8p23.1 Deletion Syndrome (A syndrome caused by a deletion in the p23.1 region of chromosome 8)<\/p>\n   <p>8p23.1 Microdeletion Syndrome (Featured on the Poster)<\/p>\n   <p class=\"mb-0\">8p23.1 Duplication Syndrome (Featured on the Poster)<\/p>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 9<\/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>Partial Deletion of Chromosome 9<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 9<\/strong> involves the loss of a segment of the chromosome, which can lead to developmental disorders and structural anomalies. The following syndromes are well-documented.<\/p>\n    \n   <p class=\"text-subtitle\">9p Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the short arm of chromosome 9 (9p).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, distinctive facial features (such as a broad nasal bridge, anteverted nares, and widely spaced eyes), growth restriction, and delayed motor skills. Cardiovascular and renal anomalies have also been reported.<\/li>\n   <li><strong>Alternative Name:<\/strong> Also known as Alfi&#8217;s Syndrome.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">9q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops when a segment of the long arm of chromosome 9 (9q) is missing.<\/li>\n   <li><strong>Symptoms:<\/strong> May cause intellectual disabilities, developmental delays, muscle weakness, cardiovascular and gastrointestinal anomalies, and immune system deficiencies. The severity of these symptoms varies depending on the precise location of the deletion.<\/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>Partial Duplication of Chromosome 9<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 9<\/strong>, the presence of excess genetic material can cause anomalies that affect development and health.<\/p>\n    \n   <p class=\"text-subtitle\">9p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when a region of the short arm of chromosome 9 (9p) is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, distinctive facial features, cardiovascular and renal anomalies, and autism spectrum disorders (ASD). The severity of symptoms can vary based on the size of the duplicated segment.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">9q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a duplication within a region of the long arm of chromosome 9 (9q).<\/li>\n   <li><strong>Symptoms:<\/strong> May cause intellectual disabilities, developmental delays, behavioral challenges, and structural abnormalities. Complications involving the cardiovascular, gastrointestinal, or renal systems can arise in particular.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 10<\/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>Partial Deletion of Chromosome 10<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 10<\/strong> involves the loss of a segment of the chromosome, which can lead to developmental disorders and structural anomalies.<\/p>\n    \n   <p class=\"text-subtitle\">10q Deletion Syndrome (10q Microdeletion Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the long arm of chromosome 10 (10q).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, atypical facial features, and cardiovascular or renal anomalies. Delayed motor skills and speech acquisition are also common.<\/li>\n   <li><strong>Management:<\/strong> For deletion syndromes, early intervention and specialized therapeutic education are vital, requiring developmental support and appropriate medical care. Surgical treatment may be carried out for structural issues such as congenital heart defects.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">10p Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops when a segment of the short arm of chromosome 10 (10p) is missing.<\/li>\n   <li><strong>Symptoms:<\/strong> May cause developmental delays, intellectual disabilities, growth restriction, distinctive facial features, and cardiovascular or renal anomalies. Characteristic facial features can include a broad nasal bridge, anteverted nares, and hypertelorism (widely spaced eyes).<\/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>Partial Duplication of Chromosome 10<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 10<\/strong>, a segment of the chromosome is present in excess copies, and the resulting overexpression of specific genes can impact health and development.<\/p>\n    \n   <p class=\"text-subtitle\">10q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when a segment of the long arm of chromosome 10 (10q) is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, atypical facial features, and cardiovascular or gastrointestinal complications. The severity of symptoms can vary based on the size and exact location of the duplication.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">10p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a duplication on the short arm of chromosome 10 (10p).<\/li>\n   <li><strong>Symptoms:<\/strong> May cause developmental delays, intellectual disabilities, behavioral challenges, distinctive facial structures, muscle weakness, and cardiovascular or renal anomalies.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 11<\/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>Partial Deletion of Chromosome 11<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 11<\/strong> occurs when a segment of the chromosome is missing, leading to a loss of specific gene functions which can result in developmental delays and structural anomalies. Representative syndromes are described below.<\/p>\n    \n   <p class=\"text-subtitle\">Wilms Tumor (WT1 Gene Deletion)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by the deletion of the WT1 gene located on the short arm of chromosome 11 (11p). This gene is involved in renal development and plays a critical role as a tumor suppressor.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with kidney cancer (Wilms tumor), genitourinary anomalies, and in some cases, differences in sex development (DSD).<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">Beckwith-Wiedemann Syndrome (BWS)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Arises from a deletion or functional dysregulation of genes in the 11p15.5 region. This is linked to abnormalities in growth-related genes such as IGF2.<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by macrosomia (large birth weight\/overgrowth), organomegaly (enlarged organs), omphalocele or umbilical hernia, and an elevated risk of developing embryonal tumors.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">Jacobsen Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the long arm of chromosome 11 (11q).<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include intellectual disabilities, motor delays, distinctive facial features (such as a broad forehead and downward-slanting palpebral fissures), bleeding tendencies (Paris-Trousseau syndrome), and cardiovascular anomalies.<\/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>Partial Duplication of Chromosome 11<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 11<\/strong> occurs when a specific region is repeated, leading to genetic overexpression that can affect health and development.<\/p>\n    \n   <p class=\"text-subtitle\">11q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a duplication on the long arm of chromosome 11 (11q).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with developmental delays, intellectual disabilities, structural anomalies (particularly involving the cardiovascular or genitourinary systems), and distinctive facial features.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">11p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when a segment on the short arm of chromosome 11 (11p) is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include developmental delays, delayed speech acquisition, muscle weakness, and structural anomalies. The scope of symptoms varies depending on the specific genes involved in the duplication.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 12<\/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>Partial Deletion of Chromosome 12<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion<\/strong> occurs when a specific region of a chromosome is missing, resulting in a deficiency of various genes and leading to the presentation of particular symptoms. The impact of a deletion on chromosome 12 depends heavily on the exact region involved and the genes located within it.<\/p>\n    \n   <ul>\n   <li><strong>Examples of Symptoms:<\/strong> Intellectual disabilities, developmental delays, structural anomalies (such as cardiac or renal defects), short stature, and muscle weakness. When a specific region on the long arm is deleted, as seen in <strong>12q15 deletion syndrome<\/strong>, a distinct set of clinical features has been documented.<\/li>\n   <li><strong>Diagnosis:<\/strong> Deletions are typically identified and characterized through chromosomal genetic testing, such as FISH (fluorescence in situ hybridization) or chromosomal microarray analysis (CMA\/CGH array).<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">Primary Syndromes<\/p>\n   <ul>\n   <li><strong>12q Deletion Syndrome:<\/strong> Refers to a condition where a segment of the long arm (q) of chromosome 12 is missing. Common presentations include developmental delays, intellectual disabilities, hypotonia (low muscle tone), distinctive facial features, and cardiovascular anomalies.<\/li>\n   <li><strong>12p Deletion Syndrome:<\/strong> Occurs when a segment of the short arm (p) of chromosome 12 is missing. This can similarly result in developmental delays and structural or physical anomalies.<\/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>Partial Duplication of Chromosome 12<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <ul>\n   <li><strong>Scope of Impact:<\/strong> A partial duplication occurs when a segment of a chromosome is present in extra copies, which can lead to the overexpression of specific genes.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">Primary Syndromes<\/p>\n   <ul>\n   <li><strong>12q Duplication Syndrome:<\/strong> When a segment of the long arm of chromosome 12 is duplicated, it can cause developmental delays, intellectual disabilities, growth restriction, and distinctive facial features.<\/li>\n   <li><strong>12p Duplication Syndrome:<\/strong> Duplications on the short arm can lead to a similar presentation of symptoms.<\/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\">\n  <p class=\"jisseki mincho\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/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\">\n<p class=\"jisseki font-s gothic\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \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\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.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>Chromosome 13<\/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>Partial Deletion of Chromosome 13<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 13<\/strong> means that a segment of the chromosome is missing, causing specific genes to become non-functional, which can adversely affect growth and health.<\/p>\n    \n   <ul>\n   <li><strong>13q Deletion Syndrome:<\/strong> Develops due to a deletion on the long arm (q) of chromosome 13. Specific characteristics include intellectual disabilities, growth restriction, distinctive facial features (such as small eyes or a low nasal bridge), underdeveloped fingers or nails, and cardiovascular or renal anomalies.<\/li>\n   <li><strong>Retinoblastoma:<\/strong> A deletion within the q14 region of chromosome 13 that encompasses the RB1 gene can cause retinoblastoma, a rare form of eye cancer that develops in childhood.<\/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>Partial Duplication of Chromosome 13<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n  <p>A <strong>partial duplication of chromosome 13<\/strong> means that an extra copy of a specific chromosomal segment is present, leading to genetic overexpression that can cause health and developmental anomalies.<\/p>\n\n   <ul>\n   <li><strong>Duplication Syndrome:<\/strong> While a partial duplication of chromosome 13 is exceedingly rare, documented characteristics include intellectual disabilities, growth restriction, and craniofacial variations (such as a broad forehead or a small jaw). The severity of clinical features varies depending on the size and location of the duplicated region.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 14<\/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>Partial Deletion of Chromosome 14<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 14<\/strong> occurs when a segment of the chromosome is missing. The resulting deficiency of genes in that region can lead to developmental disorders and structural anomalies.<\/p>\n    \n   <ul>\n   <li>\n   <strong>Examples of Symptoms:<\/strong>\n    <ul>\n      <li>Intellectual disabilities and growth restriction<\/li>\n      <li>Distinctive facial features (atypical facial and skeletal structures)<\/li>\n      <li>Cardiovascular and renal anomalies<\/li>\n      <li>Immune deficiencies and other related symptoms have been reported.<\/li>\n    <\/ul>\n   <\/li>\n   <li><strong>14q Deletion Syndrome:<\/strong> Deletions on the long arm (q) of chromosome 14 are particularly well-documented and can be associated with growth restriction, muscle hypotonia, developmental delays, and neurological symptoms such as epilepsy.<\/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>Partial Duplication of Chromosome 14<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 14<\/strong> means that extra genetic material is present, leading to atypical gene expression that can impact health and development. Symptoms vary depending on the size and specific location of the duplicated segment.<\/p>\n    \n   <ul>\n   <li>\n   <strong>Examples of Symptoms:<\/strong>\n    <ul>\n      <li>Intellectual and learning disabilities<\/li>\n      <li>Growth failure and short stature<\/li>\n      <li>Ocular and cardiovascular anomalies<\/li>\n      <li>Craniofacial variations and limb structural anomalies<\/li>\n    <\/ul>\n   <\/li>\n   <li><strong>Duplication Syndrome:<\/strong> When a segment of either the long arm or short arm of chromosome 14 is duplicated, it is known to cause growth delays and specific structural variations.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 15<\/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>Partial Deletion of Chromosome 15<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>The following well-known genetic disorders are associated with a <strong>partial deletion of chromosome 15<\/strong>.<\/p>\n    \n   <p class=\"text-subtitle\">Prader-Willi Syndrome (PWS)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when a segment of the paternally inherited chromosome 15 (typically within the 15q11-q13 region) is missing. In rare cases, it can be caused by functional inactivation of these genes rather than a physical deletion.<\/li>\n   <li><strong>Symptoms:<\/strong> Key characteristics include muscle weakness (hyponia) starting in infancy, hyperphagia (an insatiable appetite) leading to obesity, intellectual disabilities, and hypogonadism. Behavioral challenges and sleep disturbances may also occur.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">Angelman Syndrome (AS)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Involves a deletion in the exact same region (15q11-q13) as Prader-Willi syndrome, but the deletion occurs on the maternally inherited chromosome.<\/li>\n   <li><strong>Symptoms:<\/strong> Primary features include severe intellectual disabilities, ataxia (lack of voluntary coordination of muscle movements), a characteristically happy demeanor with frequent laughing and excitement, and epileptic seizures.<\/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>Partial Duplication of Chromosome 15<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 15<\/strong> causes an excess of genetic material, which impacts development and health. The most well-documented condition is <strong>15q11-q13 Duplication Syndrome<\/strong>.<\/p>\n    \n   <p class=\"text-subtitle\">15q11-q13 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a duplication of this specific region on chromosome 15.<\/li>\n   <li><strong>Symptoms:<\/strong> Frequently presents with autism spectrum disorders, developmental delays, muscle weakness, intellectual disabilities, seizures, and behavioral challenges. Clinical symptoms tend to be more pronounced when the 15q11-q13 duplication is maternally inherited.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 16<\/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>Partial Deletion of Chromosome 16<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 16<\/strong> results in a deficiency of genes, which can cause specific developmental disorders and structural anomalies.<\/p>\n    \n   <p class=\"text-subtitle\">16p11.2 Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a partial deletion on the short arm of chromosome 16 (16p11.2).<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by growth restriction, intellectual disabilities, an increased risk for autism spectrum disorders, delayed motor and language acquisition, and learning difficulties. Accelerated weight gain or obesity can also be observed.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">16q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Arises when a segment of the long arm (q) of chromosome 16 is missing, which can lead to intellectual disabilities and developmental delays.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include structural growth anomalies, muscle hypotonia, behavioral challenges, and cardiovascular or renal complications.<\/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>Partial Duplication of Chromosome 16<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 16<\/strong> involves the presence of excess genetic material, which can impact health and development.<\/p>\n   <p class=\"text-subtitle\">16p11.2 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered when the same region (16p11.2) is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by developmental delays, intellectual disabilities, features of autism spectrum disorders, and weight loss or low body weight. Behavioral presentations may also include attention-deficit\/hyperactivity disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>) and learning difficulties.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 17<\/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>Partial Deletion of Chromosome 17<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 17<\/strong> occurs when a segment of the chromosome is missing, resulting in a deficiency of essential genes that can impact growth and health.<\/p>\n    \n   <p class=\"text-subtitle\">17p13.3 Deletion Syndrome (Miller-Dieker Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Caused by a deletion within the p13.3 region on the short arm of chromosome 17.<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by severe intellectual disabilities, epilepsy, muscle hypotonia, and craniofacial variations. It severely impacts neurological development and can lead to a brain malformation known as lissencephaly (smooth brain).<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">Smith-Magenis Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a deletion in the 17p11.2 region.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, behavioral challenges (such as self-injurious behaviors), sleep disturbances, and distinctive facial features.<\/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>Partial Duplication of Chromosome 17<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 17<\/strong> involves the presence of an extra copy of a chromosomal segment, which can cause health and developmental anomalies.<\/p>\n\n   <p class=\"text-subtitle\">17p11.2 Duplication Syndrome (Potocki-Lupski Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs due to a duplication within the p11.2 region on the short arm of chromosome 17.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with autism spectrum disorders, learning difficulties, speech and language delays, muscle hypotonia, and cardiovascular anomalies.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 18<\/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>Partial Deletion of Chromosome 18<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 18<\/strong> occurs when a segment of the chromosome is missing. The resulting loss of genetic material can lead to developmental disorders and structural anomalies.<\/p>\n    \n   <p class=\"text-subtitle\">18q Deletion Syndrome (18q- Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a partial deletion on the long arm (q) of chromosome 18.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with growth restriction, intellectual disabilities, muscle weakness, atypical facial features, foot deformities (such as flat feet), immune deficiencies, speech delays, and behavioral challenges. Additionally, endocrine (hormonal) issues may arise after puberty.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">18p Deletion Syndrome (18p- Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered when a segment of the short arm (p) of chromosome 18 is missing.<\/li>\n   <li><strong>Symptoms:<\/strong> Commonly presents with growth delays, delayed motor development, muscle weakness, and mild to moderate intellectual disabilities. Facial variations and speech acquisition delays have also been reported.<\/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>Partial Duplication of Chromosome 18<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 18<\/strong>, specific genetic regions are repeated, leading to anomalies in health and development.<\/p>\n\n   <p class=\"text-subtitle\">18q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a duplication on the long arm (q) of chromosome 18.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with physical and facial structural variations, growth restriction, intellectual disabilities, and epilepsy. Structural abnormalities involving the cardiovascular or renal systems may also occur.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">18p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a partial duplication on the short arm (p) of chromosome 18.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include craniofacial variations, developmental delays, intellectual disabilities, and behavioral challenges.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 19<\/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>Partial Deletion of Chromosome 19<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 19<\/strong> involves the loss of specific genes, which can consequently lead to genetic disorders and developmental delays.<\/p>\n    \n   <p class=\"text-subtitle\">19p13 Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Caused by a deletion within the p13 region on the short arm of chromosome 19.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with developmental delays, intellectual disabilities, and physical anomalies (particularly craniofacial variations). Epilepsy and behavioral variations may also be linked to this condition.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">19q13 Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a deletion within the q13 region on the long arm of chromosome 19.<\/li>\n   <li><strong>Symptoms:<\/strong> May cause developmental delays, muscle weakness, cardiovascular or renal anomalies, and seizures. Growth restriction and immune system complications have also been reported.<\/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>Partial Duplication of Chromosome 19<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 19<\/strong>, the presence of excess copies of specific genes can potentially impact health and development.<\/p>\n\n   <p class=\"text-subtitle\">19p13 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a partial duplication on the short arm of chromosome 19.<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by developmental delays, intellectual disabilities, and behavioral challenges. Muscle weakness and structural abnormalities (such as atypical facial or limb features) have also been reported.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">19q13 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when the q13 region on the long arm of chromosome 19 is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, learning difficulties, features of autism spectrum disorders, epileptic seizures, and cardiovascular anomalies.<\/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\">\n  <p class=\"jisseki mincho\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/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\">\n<p class=\"jisseki font-s gothic\">Our <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \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\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.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>Chromosome 20<\/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>Partial Deletion of Chromosome 20<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 20<\/strong> occurs when a segment of the chromosome is missing. This gene deficiency can cause a variety of symptoms, with deletions typically documented on either the short arm (p) or the long arm (q) of chromosome 20.<\/p>\n    \n   <p class=\"text-subtitle\">20p Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a partial deletion on the short arm of chromosome 20 (20p).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, growth restriction, muscle weakness, and structural variations of the face or limbs. Behavioral challenges and learning difficulties have also been reported.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">20q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a deletion on the long arm of chromosome 20 (20q).<\/li>\n   <li><strong>Symptoms:<\/strong> May cause developmental delays, reduced motor skills, and cardiovascular or renal anomalies. Complications involving the immune and endocrine (hormonal) systems have also been documented.<\/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>Partial Duplication of Chromosome 20<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>In a <strong>partial duplication of chromosome 20<\/strong>, the presence of excess genetic copies can lead to developmental disorders and structural anomalies.<\/p>\n\n   <p class=\"text-subtitle\">20p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a duplication on the short arm of chromosome 20 (20p).<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, and atypical facial features. Behavioral challenges and cardiovascular anomalies may also be present.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">20q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when a segment on the long arm of chromosome 20 (20q) is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by developmental delays, intellectual disabilities, learning difficulties, and behavioral challenges. Cardiovascular and renal anomalies have also been reported.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 21<\/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>Partial Deletion of Chromosome 21<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 21<\/strong> occurs when a segment of the chromosome is missing, leading to a deficiency of essential genes within that region which can impact development and health.<\/p>\n    \n   <p class=\"text-subtitle\">21q Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a partial deletion on the long arm (q) of chromosome 21.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with intellectual disabilities, developmental delays, muscle weakness, cardiovascular or gastrointestinal anomalies, and distinctive facial features.<\/li>\n   <li><strong>Contrasting Features to Down Syndrome:<\/strong> In some clinical cases, because a segment of chromosome 21 is deleted rather than duplicated (as in Trisomy 21), physical characteristics may present as phenotypic opposites to those typically observed in Down syndrome.<\/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>Partial Duplication of Chromosome 21<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 21<\/strong> leads to the overexpression of specific genes, which can cause particular syndromes and health complications.<\/p>\n\n   <p class=\"text-subtitle\">21q Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a partial duplication on the long arm (q) of chromosome 21.<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include developmental delays, learning difficulties, distinctive facial features, muscle weakness, cardiovascular complications, and epileptic seizures. Severity varies depending on the size and location of the duplicated segment.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">21p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when a segment on the short arm (p) of chromosome 21 is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with developmental delays, intellectual disabilities, learning difficulties, behavioral challenges, as well as cardiovascular and renal anomalies.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<h3>Chromosome 22<\/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>Partial Deletion of Chromosome 22<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 22<\/strong> can result in developmental delays and structural anomalies due to a deficiency of specific genes. In particular, a deletion at the 22q11.2 region is the most common presentation.<\/p>\n    \n  \n   <p class=\"text-subtitle\">Cat Eye Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Arises when a segment of chromosome 22 (near the junction of the short and long arms) is deleted or duplicated. *Note: Cat Eye Syndrome is most classically associated with a partial duplication or tetrasomy of this region rather than a pure deletion.*<\/li>\n   <li><strong>Symptoms:<\/strong> Documented features include characteristic ocular anomalies (such as an iris coloboma, giving the pupil a vertical, cat-like appearance), anorectal and urinary tract anomalies, cardiovascular defects, and developmental delays.<\/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>Partial Duplication of Chromosome 22<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial duplication of chromosome 22<\/strong> involves the presence of excess genetic material, which can impact health and development.<\/p>\n\n   <p class=\"text-subtitle\">22q11.2 Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Develops due to a duplication within the 22q11.2 region, resulting in an excess of specific genes.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with developmental delays, learning difficulties, autism spectrum disorders, behavioral challenges, and cardiovascular anomalies.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">22p Duplication Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Occurs when a segment on the short arm (p) of chromosome 22 is duplicated.<\/li>\n   <li><strong>Symptoms:<\/strong> Associated with developmental delays, intellectual disabilities, learning difficulties, behavioral challenges, as well as cardiovascular and renal anomalies.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"pd-c-2\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c2\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c2\" class=\"special-btn btn-toggle\">\n  <span>Partial Deletion of Chromosome 2<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 2<\/strong> involves the loss of a specific chromosomal segment, which can result in gene deficiencies leading to diverse developmental, behavioral, and structural anomalies. The clinical presentation is heavily dictated by whether the deletion occurs on the short arm (2p) or the long arm (2q), as well as the exact size of the missing region.<\/p>\n    \n   <p class=\"text-subtitle\">2p25 Deletion (including 2p25.3 Microdeletions)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Arises from a deletion near the telomeric end of the short arm of chromosome 2. This region encompasses critical genes such as <em>MYT1L<\/em> and <em>SNTG2<\/em>. It can occur as an isolated <em>de novo<\/em> terminal deletion or concurrently with structural rearrangements like inverted duplications (inv-dup-del).<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by the early onset of obesity or being overweight, mild to moderate intellectual disabilities, behavioral issues such as hyperactivity (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>), and developmental delays.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">2q37 Deletion Syndrome (Albright&#8217;s Hereditary Osteodystrophy-like Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Triggered by a terminal or interstitial microdeletion on the long arm of chromosome 2 (2q37 siteband), a region highly susceptible to subtelomeric deletions. The loss of the <em>HDAC4<\/em> gene plays a major role in its pathogenesis.<\/li>\n   <li><strong>Symptoms:<\/strong> Prominent clinical features include developmental delays, intellectual disabilities, and speech impairments. Notable physical characteristics include craniofacial dysmorphism (e.g., a prominent forehead, depressed nasal bridge), brachydactyly (short fingers and feet), low muscle tone (hypotonia), behavioral challenges on the autism spectrum, and a tendency toward being overweight or obese. <\/li>\n   <li><strong>Positional Variations:<\/strong> Depending on the exact breakpoint location, additional structural complications can manifest:\n    <ul>\n      <li><strong>2q37.1 region involvement:<\/strong> Associated with a risk of internal structural anomalies such as congenital diaphragmatic hernia, horseshoe kidney, Wilms tumor, or CNS\/tracheal malformations.<\/li>\n      <li><strong>Proximal extensions (2q35 or 2q36):<\/strong> Can lead to severe presentations such as cleft palate.<\/li>\n    <\/ul>\n   <\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">Complex Structural Presentations (e.g., Ring Chromosome 2)<\/p>\n   <ul>\n   <li><strong>Characteristics:<\/strong> When deletions happen simultaneously at both ends of the chromosome (the terminal 2p25.3 and 2q37.3 regions) and the remaining ends fuse, it forms a ring chromosome 2. This configuration can result in severe prenatal and postnatal complications, including intrauterine growth restriction (IUGR), microcephaly, lissencephaly (smooth brain malformation), and atypical genitalia.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"pd-c-3\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c3\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c3\" class=\"special-btn btn-toggle\">\n  <span>Partial Deletion of Chromosome 3<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 3<\/strong> involves the loss of a chromosomal segment, which can result in gene deficiencies leading to distinct neurodevelopmental, behavioral, and structural manifestations. The clinical features vary widely from extremely mild to severe, depending heavily on the deletion size, the involved genes, and whether it is an interstitial or terminal deletion.<\/p>\n    \n   <p class=\"text-subtitle\">Distal \/ Terminal 3p Deletion Syndrome (3p- Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Characteristically caused by terminal or interstitial deletions on the short arm near the telomere, particularly involving the critical <strong>3p25.3 band<\/strong>. It can occur <em>de novo<\/em> or as part of complex rearrangements like ring chromosome 3 [r(3)(p25.3q29)] or unbalanced translocations. Key candidate genes within this region include <em>SETD5<\/em>, <em>THUMPD3<\/em>, <em>CHL1<\/em>, and <em>CNTN4<\/em>.<\/li>\n   <li><strong>Symptoms:<\/strong> Core clinical signs include growth failure, developmental delays, mild to severe intellectual disabilities, microcephaly (often with a flat occiput), and distinctive craniofacial dysmorphism (such as ptosis, synophrys, a broad flat nasal bridge, a long philtrum, and micrognathia). Behavioral traits like obsessive-compulsive tendencies or hyperactivity may also occur. <\/li>\n   <li><strong>Critical Sub-regions:<\/strong> \n    <ul>\n      <li><strong>Congenital Heart Defects:<\/strong> Larger or specific interstitial deletions spanning critical 3p25 regions (encompassing candidate genes like <em>CRELD1<\/em> or <em>SRGAP3<\/em>) carry a high risk of cardiac malformations and seizures.<\/li>\n      <li><strong>Hearing Impairment:<\/strong> A distinct 1.38 Mb critical region at 3p25.3 is tied to bilateral sensorineural hearing loss (SNHL). The haploinsufficiency of the <strong><em>ATP2B2<\/em> gene<\/strong>\u2014which encodes a plasma membrane calcium pump expressed in cochlear hair cell stereocilia\u2014is the primary cause.<\/li>\n    <\/ul>\n   <\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">Proximal Interstitial 3p Deletion Syndrome<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> A rare constitutional deletion occurring further down the short arm closer to the centromere, such as the <strong>3p12 region<\/strong>.<\/li>\n   <li><strong>Symptoms:<\/strong> Characterized by psychomotor and language delays alongside a distinct facial phenotype including a square face, plagiocephaly, a broad forehead, a wide nasal bridge, a long philtrum, and low-set ears.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"psd-c-8\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-psd-c8\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-psd-c8\" class=\"special-btn btn-toggle\">\n  <span>Partial Deletion \/ Duplication of Chromosome 8<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion or duplication of chromosome 8<\/strong> involves the loss or gain of a specific chromosomal segment, which can alter gene dosage and impact development. Variations involving the 8p23.1 region are among the more frequently documented structural rearrangements on the short arm of chromosome 8.<\/p>\n    \n   <p class=\"text-subtitle\">8p23.1 Partial Deletion (Monosomy 8p23.1)<\/p>\n   <ul>\n   <li><strong>Characteristics:<\/strong> A rare chromosomal anomaly characterized by a partial deletion on the short arm of chromosome 8. The estimated incidence is approximately 1 in 18,542 in amniotic fluid samples and 1 in 5,072 in postnatal samples. Clinical manifestations can include congenital heart defects, diaphragmatic hernia, developmental delays, and behavioral challenges.<\/li>\n   <\/ul>\n   \n   <p class=\"text-subtitle\">8p23.1 Partial Duplication (8p23.1 Duplication Syndrome)<\/p>\n   <ul>\n   <li><strong>Characteristics:<\/strong> Known as 8p23.1 Duplication Syndrome (8p23.1 DS), this condition has a relatively high frequency compared to other rare chromosomal rearrangements, with an estimated prevalence of 1 in 58,000. It is often characterized by a variable phenotype that can include speech and language delays, mild intellectual disabilities, dysmorphic features, and in some cases, congenital heart anomalies.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"pd-c-9\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c9\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c9\" class=\"special-btn btn-toggle\">\n  <span>Partial Deletion of Chromosome 9<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 9<\/strong> involves the loss of a chromosomal segment on the short arm (9p), leading to gene dosage reductions that cause distinct neurodevelopmental, craniofacial, and systemic anomalies. This clinical spectrum is widely known as <strong>9p- syndrome<\/strong> (or 9p monosomy syndrome). It can occur as a pure isolated deletion, via <em>de novo<\/em> structural alterations, or through unbalanced parental translocations [such as t(1;9) or t(11;9)].<\/p>\n    \n   <p class=\"text-subtitle\">Distal 9p Deletion Syndrome (9p- Syndrome)<\/p>\n   <ul>\n   <li><strong>Cause:<\/strong> Primarily caused by terminal or interstitial deletions on the short arm of chromosome 9, frequently involving breakpoints around the <strong>9p22 to 9p23 bands<\/strong>. \n    <ul>\n      <li>Molecular mapping reveals that the core consensus phenotype can be driven by a minimal critical region of less than 2 Mb at the 9pter region, encompassing key functional genes.<\/li>\n      <li>For specific severe presentations, such as those accompanied by trigonocephaly, a distinct 1 Mb critical region spanning between markers D9S912 and RP11-439I6 has been identified.<\/li>\n    <\/ul>\n   <\/li>\n   <li><strong>Symptoms:<\/strong> \n    <ul>\n      <li><strong>Craniofacial Features:<\/strong> Highly characterized by trigonocephaly (a triangular appearance of the forehead due to premature suture fusion), midface hypoplasia, an upslanted palpebral fissures, a long philtrum, and micrognathia.<\/li>\n      <li><strong>Neurodevelopmental &amp; Behavioral:<\/strong> Severe speech and language impairments are universally observed in clinically affected individuals, alongside variable intellectual disabilities, hypotonia, and an increased risk for autism spectrum disorders (ASD).<\/li>\n      <li><strong>Systemic Anomalies:<\/strong> Associated with differences in sex development (DSD\/genital anomalies) and congenital cardiovascular defects. Complex chromosomal rearrangements, such as a co-occurring 20p duplication, have uniquely been linked to rare neurological presentations like mirror hand movements.<\/li>\n    <\/ul>\n   <\/li>\n   <li><strong>Cardiac Manifestations:<\/strong> Beyond major structural congenital heart defects (CHD), recent tissue Doppler and echographical evaluations show that individuals with 9p- syndrome can present with subclinical cardiac structural remodeling as well as left ventricular systolic and diastolic dysfunction, necessitating routine, long-term cardiovascular monitoring.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"pd-c-18p\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-pd-c18p\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-pd-c18p\" class=\"special-btn btn-toggle\">\n  <span>Partial Deletion of Chromosome 18p (18p- Syndrome)<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p>A <strong>partial deletion of chromosome 18p<\/strong> (commonly known as <strong>18p- syndrome<\/strong> or 18p monosomy) is a rare chromosomal disorder characterized by the loss of all or part of the short arm of chromosome 18. It can occur as an isolated <em>de novo<\/em> terminal deletion or through complex parental structural rearrangements, such as pericentric inversions [e.g., inv(18)(p11q21)] that yield unbalanced recombinants with a concurrent 18q duplication (18p-\/18q+ configuration).<\/p>\n    \n   <p class=\"text-subtitle\">Core Features &amp; Phenotypic Spectrum<\/p>\n   <ul>\n   <li><strong>Neurodevelopmental Profiles:<\/strong> Variable cognitive involvement is typical. While intellectual disability is the most consistent feature, cognitive severity ranges from average intelligence to mild-to-moderate deficits. Neuropsychological testing demonstrates distinct cognitive splits, where social cognition (interpreting social situations via nonverbal observations) represents a relative strength, whereas verbal proficiency and understanding social rules represent areas of vulnerability. Socialization and motor skills are often better developed than adaptive communication.<\/li>\n   <li><strong>Craniofacial and Structural Features:<\/strong> Characterized by growth restriction, short stature, microcephaly, round face, midface hypoplasia, ptosis, prominent or low-set ears, a high-arched palate, a short\/webbed neck, and a low posterior hairline. Severe structural midline defects, such as holoprosencephaly or clefting anomalies, can also manifest.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">Endocrine and Systemic Manifestations<\/p>\n   <ul>\n   <li><strong>Hypothalamic-Pituitary Dysfunction:<\/strong> Growth failure can be driven by primary neuroendocrine anomalies, including <strong>panhypopituitarism<\/strong> or isolated <strong>growth hormone (GH) deficiency<\/strong>. Magnetic resonance imaging (MRI) frequently confirms structural midline indicators such as an ectopic posterior pituitary, a poorly visualized or absent pituitary stalk, and a small, shallow sella turcica. Recombinant human growth hormone therapy has proven highly effective in improving linear growth velocity without significant adverse effects.<\/li>\n   <li><strong>Cardiovascular Alterations:<\/strong> Congenital structural heart defects are exceptionally rare in pure 18p- variants; however, specific sub-structural remodeling, including <strong>asymmetric septal hypertrophy<\/strong> or vascular complications (such as descending aortitis and aortic pseudoaneurysm), have been documented, implicating structural genes in this segment in cardiovascular development.<\/li>\n   <li><strong>Turner-like Phenocopy:<\/strong> Due to the overlapping clinical presentation of short stature, webbed neck, a low hairline, puffy eyelids, and an increased cubitus valgus (carrying angle of the elbow), female patients can strongly mimic Turner syndrome, highlighting the need for chromosomal microarray analysis (CMA) when sex chromosome monosomy is ruled out.<\/li>\n   <\/ul>\n\n   <p class=\"text-subtitle\">Genotype-Phenotype Variability &amp; Mechanisms<\/p>\n   <ul>\n   <li><strong>Expression Heterogeneity:<\/strong> Recombinant breakpoints frequently cluster at the p11.31, q21.3, and q12 regions. Even individuals sharing identical chromosomal breakpoints\u2014including affected mothers and their offspring\u2014can express starkly divergent phenotypes, proving that variable expressivity, genomic modifiers, or environmental socioeconomic factors exert significant influence on development.<\/li>\n   <li><strong>Molecular Drivers:<\/strong> Structural rearrangements on 18p are largely non-recurrent. Breakpoints lack low-copy repeats (LCRs) or segmental duplications (SDs) but are significantly enriched with transposable elements like <em>Alu<\/em> subfamilies, LINE1, and mammalian-wide interspersed repeats (MIRs). These small repeat elements facilitate microhomology-mediated DNA repair pathways during parental gametogenesis, especially in maternal inversion carriers who exhibit a higher propensity for generating abnormal recombinant gametes.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"md-dup-overview\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-md-dup\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-md-dup\" class=\"special-btn btn-toggle\">\n  <span>Microdeletions and Microduplications<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>Microdeletions and microduplications<\/strong> are submicroscopic structural chromosomal rearrangements that involve the loss or gain of small segments of DNA. Because these changes are typically too small to be visualized by conventional karyotyping, they require high-resolution molecular cytogenetic techniques such as chromosomal microarray analysis (CMA) for detection.<\/p>\n    \n   <ul>\n   <li><strong>Microdeletions:<\/strong> \n    <ul>\n     <li><strong>Estimated Frequency:<\/strong> Approximately 1 in 5,025 individuals.<\/li>\n     <li><strong>Epidemiological Context:<\/strong> Recent data indicates that deletions, including microdeletions, account for roughly 4.7% of all reported chromosomal anomalies. This corresponds to a prevalence rate of approximately 1.99 cases per 10,000 live births.<\/li>\n    <\/ul>\n   <\/li>\n   <li><strong>Microduplications:<\/strong> \n    <ul>\n     <li><strong>Estimated Frequency:<\/strong> Approximately 1 in 14,286 individuals.<\/li>\n     <li><strong>Epidemiological Context:<\/strong> Duplications are less frequently observed than deletions, accounting for about 1.6% of all documented chromosomal anomalies. This yields a lower baseline prevalence rate of approximately 0.7 cases per 10,000 live births.<\/li>\n    <\/ul>\n   <\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\n<\/div>\n\n\n\n<div class=\"text-group\" id=\"ar-disorders\">\n <div class=\"toggle-wrap\">\n  <input type=\"checkbox\" id=\"toggle-ar-disorders\" class=\"toggle-checkbox\" \/>\n  <label for=\"toggle-ar-disorders\" class=\"special-btn btn-toggle\">\n  <span>Autosomal Recessive Disorders<\/span>\n  <\/label>\n\n  <div class=\"text-group-content toggle-content mb-3\">\n  <div class=\"text-wrap\">\n   <p><strong>Autosomal recessive (AR) disorders<\/strong> constitute a significant proportion of genetic diseases globally and account for a substantial overall disease burden. These conditions manifest when an individual inherits two altered copies of a specific gene (one from each parent).<\/p>\n    \n   <ul>\n   <li><strong>Estimated Frequency:<\/strong> Approximately 1.75 to 5 cases per 1,000 live births.<\/li>\n   <li><strong>Epidemiological Context:<\/strong> In comparison to other patterns of inheritance, the collective incidence of autosomal recessive conditions is notably higher than that of autosomal dominant disorders, which affect roughly 1.4 per 1,000 live births.<\/li>\n   <\/ul>\n  <\/div>\n  <\/div>\n\n <\/div>\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\">Is it truly unnecessary to screen for all chromosomal aneuploidies, partial deletions, and partial duplications?<\/h2>\n\n\n\n<p>Certified clinics strongly recommend screening exclusively for trisomies 21, 18, and 13, and it is frequently stated that other screenings are unwarranted. Despite this prevailing view, Hiro Clinic offers a comprehensive spectrum of additional tests. The rationale behind this is that when the frequencies of these other conditions are consolidated, they are not rare, and they can significantly impact maternal health. Because certified clinics do not conduct these expanded screenings themselves, they lack empirical data regarding their actual frequency and impact (or perhaps they simply choose not to disclose it). Conversely, Hiro Clinic actively tracks these statistics, maintaining data on other numerical aneuploidies, partial deletions, and partial duplications. Below is an excerpt of Hiro Clinic&#8217;s screening data, which we intend to compare with international benchmarks.<\/p>\n\n\n\n<table>\n  <thead>\n    <tr>\n      <th>Total Samples: 29,270<\/th>\n      <th>Individuals<\/th>\n      <th>Percentage<\/th>\n    <\/tr>\n  <\/thead>\n  <tbody>\n    <tr>\n      <td>Trisomy 13<\/td>\n      <td>43<\/td>\n      <td>0.15%<\/td>\n    <\/tr>\n    <tr>\n      <td>All Chromosomal Aneuploidies (excluding 13, 18, 21)<\/td>\n      <td>179<\/td>\n      <td>0.59%<\/td>\n    <\/tr>\n    <tr>\n      <td>Partial Deletions and Partial Duplications<\/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=\"WN8nPZNDsP\"><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=zN5lFNoZp1#?secret=WN8nPZNDsP\" data-secret=\"WN8nPZNDsP\" width=\"500\" height=\"282\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\"><\/iframe>\n<\/div><\/figure>\n\n\n\n<p>We intend to gather international data from the websites listed above. Since these sites are primarily geared toward professionals and contain dense medical terminology, we will provide a simplified translation for easier comprehension (although the sites are publicly accessible, they can be difficult to navigate due to the specialized jargon).<\/p>\n\n\n\n<p>First, here is the translated version of the top page. Any areas where our clinical terminology differs have been highlighted in red for clarification. Following that, we have included digests of data reported by various countries. In all instances, the findings do not show any significant variance from Hiro Clinic\u2019s own statistical data.<\/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><br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Results of Publicly Funded Nationwide Primary Non-Invasive Prenatal Screening<\/h2>\n\n\n\n<p><a href=\"https:\/\/niptconsortium.com\/category\/belgium\/\">Belgium<\/a><\/p>\n\n\n\n<p>Belgium was the first country to implement and fully reimburse <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> as a primary screening test for all pregnant women. This publication reports on two years of clinical experience from a consortium consisting of all genetic centers in Belgium, which offered expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> as a primary screening option to the entire pregnant population. Among the 153,575 pregnancies screened, rare autosomal trisomies and partial deletions\/duplications were identified in 0.23% and 0.07% of cases, respectively. Invasive diagnostic obstetric procedures decreased by 52%. The authors conclude that the expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> approach has been successfully integrated into Belgian prenatal care and could serve as a framework for other nations implementing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> programs.<\/p>\n\n\n\n<p>\u2462The Netherlands<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5929118\/pdf\/gim2017132a.pdf\">Origin and Clinical Relevance of Chromosomal Aberrations Other Than Common Trisomies Detected by Genome-Wide NIPS: Results of the TRIDENT Study<\/a><\/h2>\n\n\n\n<p><a href=\"https:\/\/niptconsortium.com\/category\/netherlands\/\">The Netherlands<\/a><\/p>\n\n\n\n<p>This publication demonstrated the potential clinical utility of utilizing expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> to detect chromosomal aberrations beyond common aneuploidies. Within this study population, 1.6% of the cases undergoing expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> screened positive for rare chromosomal abnormalities, consisting of rare autosomal trisomies or large partial deletions\/duplications. Among these positive cases, 60% were associated with adverse pregnancy outcomes, including abnormal fetal phenotypes and intrauterine growth restriction (IUGR).<\/p>\n\n\n\n<p>\u2463The United States<\/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\">Genome-Wide Cell-Free DNA Screening: Focusing on Copy Number Variations<\/a><\/h2>\n\n\n\n<p><a href=\"https:\/\/niptconsortium.com\/category\/united-states\/\">United States<\/a><\/p>\n\n\n\n<p>This publication focuses on 490 cases (0.56%) that screened positive for at least one partial chromosomal deletion\/duplication out of a cohort of 86,902 expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> samples. Diagnostic confirmation results were obtained for 50% of these cases, revealing a positive predictive value (PPV) exceeding 70%.<\/p>\n\n\n\n<p>\u2464The People&#8217;s Republic of China<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30828085\/\">Clinical Utility of Non-Invasive Prenatal Screening for Expanded Chromosomal Disorders<\/a><\/h2>\n\n\n\n<p><a href=\"https:\/\/niptconsortium.com\/category\/china-hong-kong\/\">China \/ Hong Kong<\/a><\/p>\n\n\n\n<p>This publication evaluated the clinical performance of expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> for both numerical aneuploidies and genome-wide microdeletion\/microduplication syndromes across an all-risk pregnant population. A cohort of 94,085 patients with singleton pregnancies was prospectively enrolled. The expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> detected clinically significant fetal chromosomal aberrations in 1.2% of the samples, and the positive predictive values (PPVs) for each type of screen-positive anomaly were calculated.<\/p>\n","protected":false},"excerpt":{"rendered":"Available Plans for &#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":24299,"parent":29825,"menu_order":115,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-31615","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\/31615","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=31615"}],"version-history":[{"count":28,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/31615\/revisions"}],"predecessor-version":[{"id":131339,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/31615\/revisions\/131339"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/29825"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/24299"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=31615"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}