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\u6b63\u5e38\u306a\u6210\u9577\u3068\u767a\u9054\u306b\u306f\u3001\u6b63\u3057\u3044\u91cf\u306e\u907a\u4f1d\u7269\u8cea\u304c\u5fc5\u8981\u3067\u3059\u3002 \u4f59\u5206\u306a\u907a\u4f1d\u7269\u8cea\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3002 \u3057\u304b\u3057\u3001\u554f\u984c\u306e\u6027\u8cea\u306f\u3001\u8907\u88fd\u3055\u308c\u305f\u67d3\u8272\u4f53\u65ad\u7247\u3001\u305d\u308c\u304c\u3082\u3064\u907a\u4f1d\u5b50\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u8d77\u6e90\u306e\u89aa\u306b\u4f9d\u5b58\u3057\u3066\u3044\u308b\u3002 \u3053\u308c\u307e\u3067\u306b\u3001\u7b2c14\u67d3\u8272\u4f53\u4e0a\u306b730\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E6%9F%93%E8%89%B2%E4%BD%93\"><\/span>\u907a\u4f1d\u5b50\u3068\u67d3\u8272\u4f53<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u308f\u308c\u308f\u308c\u306e\u4f53\u306f\u6570\u5341\u5104\u500b\u306e\u7d30\u80de\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u308b\u3002 \u5927\u90e8\u5206\u306e\u7d30\u80de\u306f\u3001\u6570\u4e07\u500b\u306e\u907a\u4f1d\u5b50\u306e\u5b8c\u5168\u306a\u30bb\u30c3\u30c8\u3092\u3082\u3063\u3066\u3044\u308b\u3002 \u907a\u4f1d\u5b50\u306f\u3001\u6210\u9577\u3068\u767a\u9054\u3092\u5236\u5fa1\u3057\u3001\u4f53\u304c\u3069\u306e\u3088\u3046\u306b\u50cd\u304f\u304b\u3092\u5236\u5fa1\u3059\u308b\u3001\u4e00\u9023\u306e\u6307\u793a\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u3059\u308b\u3002<br>\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f53\u3068\u3088\u3070\u308c\u308b\u5fae\u5c0f\u306a\u7cf8\u72b6\u306e\u69cb\u9020\u3092\u3082\u3063\u3066\u3044\u308b\u3002 \u901a\u5e38\u300146\u672c\u306e\u67d3\u8272\u4f53\u304c\u3042\u308a\u300123\u672c\u306f\u6bcd\u89aa\u304b\u3089\u300123\u672c\u306f\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u308f\u308c\u308f\u308c\u306f23\u672c\u306e\u67d3\u8272\u4f53\u306e2\u7d44\u3092\u300c\u30da\u30a2\u300d\u3068\u3057\u3066\u3044\u308b\u3002 2\u3064\u306e\u6027\u67d3\u8272\u4f53(\u5973\u5150\u306b\u306f2\u672c\u306eX\u67d3\u8272\u4f53\u3001\u7537\u5150\u306b\u306f1\u672c\u306eX\u67d3\u8272\u4f53\u3001\u7537\u5150\u306b\u306f1\u672c\u306eY\u67d3\u8272\u4f53)\u3092\u9664\u3044\u3066\u3001\u67d3\u8272\u4f53\u306b\u306f1~22\u306e\u756a\u53f7\u304c\u4ed8\u3055\u308c\u3001\u4e00\u822c\u306b\u6700\u5927\u304b\u3089\u6700\u5c0f\u306b\u306a\u308b\u3002<br>\u305d\u308c\u305e\u308c\u306e\u67d3\u8272\u4f53\u306b\u306f\u3001\u77ed\u3044\u8155(\u6b21\u30da\u30fc\u30b8\u306e\u56f3\u306e\u4e0a\u306b\u3042\u308b)\u304c\u3042\u308a\u3001\u3053\u308c\u306f\u30da\u30c3\u30c8\u304b\u3089p\u3001\u5c0f\u3055\u3044\u3082\u306e\u306f\u30d5\u30e9\u30f3\u30b9\u8a9e\u306e\u5358\u8a9e\u3067\u3001\u9577\u3044\u8155(\u4e0b\u306b\u3042\u308b)\u3068\u547c\u3070\u308c\u308b\u3002 \u7b2c14\u67d3\u8272\u4f53\u306e\u77ed\u3044(p)\u30a2\u30fc\u30e0\u306f\u975e\u5e38\u306b\u5c0f\u3055\u304f\u3001\u660e\u3089\u304b\u306a\u5bb3\u3092\u53d7\u3051\u308b\u3053\u3068\u306a\u304f\u8907\u88fd\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3068\u308f\u308c\u308f\u308c\u306f\u8003\u3048\u3066\u3044\u308b\u3002 \u9577\u8155\u304b\u3089\u306e\u4f59\u5206\u306a\u907a\u4f1d\u7269\u8cea\u306f\u3001\u3053\u306e\u90e8\u5206\u304c\u91cd\u8981\u306a\u907a\u4f1d\u60c5\u5831\u3092\u542b\u3093\u3067\u3044\u308b\u305f\u3081\u3001\u3088\u308a\u591a\u304f\u306e\u7d50\u679c\u3092\u3082\u305f\u3089\u3059\u3068\u4e88\u60f3\u3055\u308c\u308b\u3002<br>\u67d3\u8272\u4f53\u306f\u8089\u773c\u3067\u306f\u898b\u3048\u307e\u305b\u3093\u304c\u3001\u9855\u5fae\u93e1\u3067\u62e1\u5927\u3059\u308b\u3068\u3001\u7279\u5fb4\u7684\u306a\u30d0\u30f3\u30c9\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3059\u8272\u7d20\u3067\u67d3\u8272\u3057\u305f\u5f8c\u306b\u898b\u3048\u307e\u3059\u3002 3\u30da\u30fc\u30b8\u306e\u56f3\u306f\u3001\u7b2c14\u67d3\u8272\u4f53\u306e\u30d0\u30f3\u30c9\u3067\u3001\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2(2\u672c\u306e\u8155\u306b\u5206\u304b\u308c\u308b\u67d3\u8272\u4f53\u306e\u304f\u307c\u307f\u90e8\u5206)\u304b\u3089\u5916\u5074\u306b\u756a\u53f7\u304c\u4ed8\u3051\u3089\u308c\u3066\u3044\u308b\u3002 q11\u306e\u3088\u3046\u306b\u52d5\u539f\u4f53\u306b\u8fd1\u3044\u6570\u5b57\u304c\u5c11\u306a\u3044\u3002 \u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u306b\u8fd1\u3044\u9818\u57df\u306f\u8fd1\u4f4d\u3068\u3088\u3070\u308c\u308b\u3002 q32\u306e\u3088\u3046\u306a\u591a\u6570\u306e\u67d3\u8272\u4f53\u306f\u67d3\u8272\u4f53\u306e\u5148\u7aef\u4ed8\u8fd1\u306b\u3042\u308a\u3001\u52d5\u539f\u4f53\u304b\u3089\u96e2\u308c\u3066\u3044\u308b\u306e\u3067\u9060\u4f4d\u3068\u547c\u3070\u308c\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A0%B8%E5%9E%8B\"><\/span>\u6838\u578b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b66\u306e\u5c02\u9580\u5bb6\u306f\u3001\u3069\u306e\u67d3\u8272\u4f53\u304c\u5931\u308f\u308c\u305f\u304b\u306b\u3064\u3044\u3066\u3082\u3063\u3068\u8a73\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002 \u67d3\u8272\u4f53\u304c\u5207\u65ad\u3055\u308c\u3001\u518d\u7d50\u5408\u3057\u305f\u30d0\u30f3\u30c9\u3092\u793a\u3059\u77ed\u7e2e\u30b3\u30fc\u30c9\u3067\u3042\u308b\u6838\u578b\u304c\u4e0e\u3048\u3089\u308c\u308b\u3053\u3068\u306f\u307b\u307c\u9593\u9055\u3044\u306a\u3044\u3002 \u30d0\u30f3\u30c9\u306b\u306f\u591a\u304f\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u67d3\u8272\u4f53\u306e\u91cd\u8907\u3092\u8abf\u3079\u308b\u6280\u8853\u306b\u3088\u3063\u3066\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u793a\u3059\u6838\u578b\u3082\u3042\u308a\u307e\u3059\u3002 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\u3053\u308c\u306f\u3001\u660e\u3089\u304b\u306b\u985e\u4f3c\u3057\u305f\u6838\u578b\u3092\u3082\u3064\u4eba\u304c\u3059\u3079\u3066\u540c\u3058\u554f\u984c\u3084\u7279\u5fb4\u3092\u3082\u3063\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u91cd\u8981\u306a\u7406\u7531\u306e1\u3064\u3067\u3042\u308b\u3002 \u500b\u4eba\u5dee\u306f\u304d\u308f\u3081\u3066\u9855\u8457\u3067\u3042\u308a\u3001\u5b50\u4f9b\u3068\u4ed6\u306e\u4eba\u3068\u3092\u76f4\u63a5\u6bd4\u8f03\u3057\u306a\u3044\u3053\u3068\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002 \u7d50\u5c40\u306e\u3068\u3053\u308d\u3001\u79c1\u305f\u3061\u4e00\u4eba\u3072\u3068\u308a\u304c\u30e6\u30cb\u30fc\u30af\u3067\u3042\u308b\u3002 \u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u306e\u3042\u308b\u4eba\u3067\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u3084\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u304c\u4f3c\u3066\u3044\u307e\u3059\u3002 \u3053\u306e\u30d1\u30f3\u30d5\u30ec\u30c3\u30c8\u306b\u306f\u3001\u4f3c\u305f\u3088\u3046\u306a\u3082\u306e\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"470\" height=\"471\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-a.png\" alt=\"\" class=\"wp-image-18297\"\/><figcaption class=\"wp-element-caption\">\u7b2c14\u67d3\u8272\u4f53<img alt=\"\"><\/figcaption><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q%E3%81%AE%E4%BD%99%E5%88%86%E3%81%AA%E9%83%A8%E5%88%86%E3%81%8C%E3%81%A9%E3%81%A1%E3%82%89%E3%81%AE%E8%A6%AA%E3%81%8B%E3%82%89%E6%9D%A5%E3%81%9F%E3%81%8B%E3%81%AF%E9%87%8D%E8%A6%81%E3%81%AA%E3%81%AE%E3%81%A0%E3%82%8D%E3%81%86%E3%81%8B%E3%80%82\"><\/span>14q\u306e\u4f59\u5206\u306a\u90e8\u5206\u304c\u3069\u3061\u3089\u306e\u89aa\u304b\u3089\u6765\u305f\u304b\u306f\u91cd\u8981\u306a\u306e\u3060\u308d\u3046\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>14\u756a\u67d3\u8272\u4f53\u306e\u4f59\u5206\u306a\u90e8\u5206\u306f\u6bcd\u89aa\u304b\u7236\u89aa\u306e\u3069\u3061\u3089\u304b\u306b\u7531\u6765\u3057\u3001\u3069\u306e\u89aa\u306b\u7531\u6765\u3059\u308b\u304b\u306b\u3088\u3063\u3066\u5f71\u97ff\u304c\u7570\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u3053\u308c\u306f\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u73fe\u8c61\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u90e8\u5206\u304c\u8d77\u6e90\u306e\u89aa\u306b\u4f9d\u5b58\u3057\u3066\u7570\u306a\u308b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002 \u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u306b\u53ca\u307c\u3059\u5f71\u97ff\u306f\u3001\u7f79\u60a3\u3057\u305f\u4e73\u5150\u307e\u305f\u306f\u5c0f\u5150\u306b\u3001\u4e00\u65b9\u306e\u89aa\u304b\u3089\u306e\u907a\u4f1d\u5b50\u3092\u5358\u56de\u6295\u4e0e\u3057\u3001\u4ed6\u65b9\u306e\u89aa\u304b\u3089\u306e\u907a\u4f1d\u5b50\u30922\u56de\u6295\u4e0e\u3059\u308b\u3053\u3068\u3067\u3042\u308b\u3002 \u7b2c14\u67d3\u8272\u4f53\u4e0a\u306e\u3042\u308b\u7a2e\u306e\u907a\u4f1d\u5b50\u306f\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u3055\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u6bcd\u89aa\u304b\u308914q\u306e\u8155\u30922\u672c\u6301\u3063\u3066\u3044\u308b\u4eba\u306f\u3001\u7236\u89aa\u304b\u308914q\u306e\u8155\u30922\u672c\u6301\u3063\u3066\u3044\u308b\u4eba\u3068\u306f\u975e\u5e38\u306b\u7570\u306a\u3063\u3066\u3044\u308b(\u4e00\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc14\u306eUnique\u306e\u30ea\u30fc\u30d5\u30ec\u30c3\u30c8\u3092\u53c2\u7167)\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u91cd\u8907<\/a>\u306e\u7279\u5b9a\u306e\u7279\u5fb4\u3068\u67d3\u8272\u4f53\u8155\u306e\u7279\u5b9a\u306e\u9818\u57df\u3068\u306e\u9593\u306b\u95a2\u9023\u6027\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u3002 \u3042\u308b\u8a3c\u62e0\u306f\u30011\u5bb6\u7cfb\u306e6\u4eba\u306e\u8fd1\u89aa\u8005\u304b\u3089\u5f97\u3089\u308c\u305f\u3082\u306e\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q31\u5185\u306e\u5c0f\u3055\u306a\u30d0\u30f3\u30c9\u304c\u91cd\u8907<\/a>\u3057\u3066\u304a\u308a\u3001\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u304c\u307f\u3089\u308c\u308b1\u4eba\u306e\u5c0f\u5150\u3092\u9664\u304d\u3001\u660e\u3089\u304b\u306b\u5b8c\u5168\u306b\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 \u3053\u306e\u91cd\u8907\u306f\u6bcd\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q31\u306e\u6bcd\u6027\u907a\u4f1d\u306b\u3088\u308b\u5c0f\u3055\u306a\u91cd\u8907<\/a>\u306f\u4e00\u822c\u306b\u6709\u5bb3\u3067\u306f\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002 \u30d0\u30f3\u30c9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q31\u5185\u306b\u7570\u306a\u308b\u5c0f\u3055\u306a\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u5225\u306e\u5bb6\u7cfb\u3067\u306f\u3001\u6700\u3082\u91cd\u7be4\u306a\u7f79\u60a3\u5150\u304c\u6bcd\u89aa\u304b\u3089\u306e\u91cd\u8907\u3092\u53d7\u3051\u7d99\u3044\u3060\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u5bb6\u7cfb\u3067\u306f\u3001\u91cd\u8907\u3057\u305f\u7269\u8cea\u304c\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305f\u5834\u5408\u3001\u305d\u306e\u5f71\u97ff\u306f\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u308b(\u660e\u3089\u304b\u306a\u5f71\u97ff\u3092\u4f34\u308f\u306a\u3044\u91cd\u8907\u306e\u3042\u308b\u5bb6\u7cfb\u30015\u30da\u30fc\u30b8\u53c2\u7167)\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u304b\u3089\u5206\u304b\u308b\u3088\u3046\u306b\u3001\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u306e\u52b9\u679c\u306b\u95a2\u3059\u308b\u60c5\u5831\u306f\u307e\u3060\u5c55\u958b\u3055\u308c\u3066\u3044\u308b(Palmer 2006; Sutton 2002; MignonRavix 2001; Georgiades 1998; Robin 1997)\u3002<\/p>\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<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E5%85%B8%E3%81%A8%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u51fa\u5178\u3068\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u3053\u306e\u30d1\u30f3\u30d5\u30ec\u30c3\u30c8\u306b\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u60c5\u5831\u306e\u4e00\u90e8\u306f\u3001\u516c\u8868\u3055\u308c\u3066\u3044\u308b\u533b\u5b66\u6587\u732e\u304b\u3089\u5f15\u7528\u3055\u308c\u3066\u3044\u308b\u3002 \u591a\u304f\u306e\u5834\u5408\u3001\u67d3\u8272\u4f53\u306e\u8a73\u7d30\u306a\u5206\u5b50\u89e3\u6790\u306f\u884c\u308f\u308c\u3066\u304a\u3089\u305a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u3068\u5225\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f53\u306e\u6b20\u5931\u307e\u305f\u306f\u91cd\u8907<\/a>\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u591a\u3044\u304c\u3001\u73fe\u6642\u70b9\u3067\u306f\u5229\u7528\u3067\u304d\u308b\u6700\u826f\u306e\u60c5\u5831\u3067\u3042\u308b\u3002<br>PubMed\u3067\u306f\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306e\u6284\u9332\u3084\u539f\u8457\u8ad6\u6587\u3092\u691c\u7d22\u3059\u308b\u305f\u3081\u306b\u3001\u6700\u521d\u306b\u540d\u524d\u3092\u3064\u3051\u305f\u8457\u8005\u3068\u767a\u8868\u65e5\u304c\u4e0e\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br>\u307e\u305f\u3001Unique\u304b\u3089\u6284\u9332\u3084\u8ad6\u6587\u3092\u5165\u624b\u3059\u308b\u3053\u3068\u3082\u3067\u304d\u307e\u3059\u3002<br>\u3053\u306e\u30d1\u30f3\u30d5\u30ec\u30c3\u30c8\u306b\u306f\u3001Unique\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3082\u5229\u7528\u3055\u308c\u3066\u3044\u307e\u3059\u3002 \u3053\u306e\u30ea\u30fc\u30d5\u30ec\u30c3\u30c8\u304c\u66f8\u304b\u308c\u305f\u3068\u304d\u3001Unique\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f5314q\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b44\u4eba\u306e\u30e1\u30f3\u30d0\u30fc\u3092\u6709\u3057\u3001\u305d\u306e\u3046\u306124\u4eba\u306f\u7d14\u7c8b\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u91cd\u8907<\/a>\u3092\u6709\u3057\u3066\u3044\u305f\u3002 18\u5bb6\u7cfb\u304c2006\u5e74\u306b\u8a73\u7d30\u306a\u8cea\u554f\u7968\u3092\u8a18\u5165\u3057\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q%E3%81%AE%E5%AE%8C%E5%85%A8%E9%87%8D%E8%A4%87%E3%83%88%E3%83%AA%E3%82%BD%E3%83%9F%E3%83%BC\"><\/span>14q\u306e\u5b8c\u5168\u91cd\u8907(\u30c8\u30ea\u30bd\u30df\u30fc)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-b.png\" alt=\"\" class=\"wp-image-18299\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u7b2c14\u67d3\u8272\u4f53\u306e\u5168\u9577\u8155\u3092\u3082\u3063\u305f\u8d64\u3061\u3083\u3093\u3092\u53d7\u80ce\u3055\u305b\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3042\u308b\u3002 \u3053\u308c\u306f\u3001\u4e00\u65b9\u306e\u89aa\u304c\u30ed\u30d0\u30fc\u30c8\u30bd\u30f3\u8ee2\u5ea7\u3092\u3082\u3063\u3066\u304a\u308a\u300114\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u304c\u4ed6\u65b9\u306e\u67d3\u8272\u4f53\u306e\u9577\u8155\u3068\u878d\u5408\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u6700\u3082\u3088\u304f\u307f\u3089\u308c\u308b\u300213\u756a\u67d3\u8272\u4f53\u306e\u983b\u5ea6\u304c\u6700\u3082\u9ad8\u3044\u306e\u306f\u300121\u756a\u67d3\u8272\u4f53\u300115\u756a\u67d3\u8272\u4f53\u300122\u756a\u67d3\u8272\u4f53\u300114\u756a\u67d3\u8272\u4f53\u306e\u9806\u3067\u3042\u308b\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u598a\u5a20\u55aa\u5931\u306f\u4e00\u822c\u7684\u3067\u3042\u308a\u3001\u5b8c\u5168\u306a14q\u306e\u904e\u5270\u6442\u53d6\u3092\u4f34\u3046\u65b0\u751f\u5150\u306f\u4e00\u822c\u306b\u51fa\u751f\u307e\u3067\u751f\u5b58\u3057\u306a\u3044\u3002 \u751f\u5b58\u3057\u3066\u3044\u308b\u4e73\u5150\u306e\u3046\u3061\u3001\u5727\u5012\u7684\u591a\u6570\u304c\u6b63\u5e38\u306a\u6570\u306e\u67d3\u8272\u4f53\u3092\u3082\u3064\u7d30\u80de\u3068\u3001\u4f59\u5206\u306a14q\u3092\u3082\u3064\u7d30\u80de\u3092\u3082\u3063\u3066\u3044\u308b\u3002 \u3053\u308c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u30c8\u30ea\u30bd\u30df\u30fc14\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>14\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u5c0f\u5150\u304c\u76f4\u9762\u3059\u308b\u554f\u984c\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u90e8\u5206\u7684\u91cd\u8907<\/a>\u306e\u5c0f\u5150\u304c\u76f4\u9762\u3059\u308b\u554f\u984c\u3088\u308a\u3082\u91cd\u75c7\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u3001\u767a\u80b2\u304a\u3088\u3073\u767a\u9054\u306e\u9045\u5ef6\u3001\u7570\u5e38\u306a\u9854\u8c8c(\u5e83\u304f\u4e0a\u5411\u304d\u306e\u9f3b\u3001\u7570\u5e38\u306b\u5f62\u6210\u307e\u305f\u306f\u7559\u7f6e\u3055\u308c\u305f\u8033\u3001\u5c0f\u3055\u306a\u4e0b\u984e\u304a\u3088\u3073\u77ed\u3044\u9838\u90e8)\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u304a\u3088\u3073\u7537\u5150\u3067\u306f\u5c0f\u3055\u306a\u6027\u5668\u5947\u5f62\u306a\u3069\u304c\u3042\u308b\u3002<br>\u3053\u306e\u30ea\u30fc\u30d5\u30ec\u30c3\u30c8\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f5314q\u306e\u4e00\u90e8\u306e\u91cd\u8907<\/a>\u3092\u8003\u5bdf\u3057\u3066\u3044\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q22\u306814q32\u306e\u9593\u306e\u5927\u304d\u306a\u91cd\u8907<\/a>\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q13\u306e\u8fd1\u4f4d\u304a\u3088\u3073\u9060\u4f4d\u307e\u3067\u4f38\u3073\u308b\u91cd\u8907<\/a>\u3068\u540c\u69d8\u306b\u3001\u9577\u8155\u306e\u672b\u7aef\u3092\u542b\u3080\u3068\u8003\u3048\u3089\u308c\u308b\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q22%E3%81%A814q32%E3%81%AE%E9%96%93%E3%81%AE%E5%A4%A7%E3%81%8D%E3%81%AA%E9%87%8D%E8%A4%87\"><\/span>14q22\u306814q32\u306e\u9593\u306e\u5927\u304d\u306a\u91cd\u8907<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-c.png\" alt=\"\" class=\"wp-image-18301\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u533b\u5b66\u6587\u732e\u3067\u306f\u3001\u8907\u6570\u306e\u5bb6\u7cfb\u54e1\u304c\u7f79\u60a3\u3057\u305f1\u4ef6\u306e\u5831\u544a\u3001\u304a\u3088\u3073\u30d0\u30f3\u30c9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q31\u304a\u3088\u3073q32\u5185\u306e\u3088\u308a\u5c0f\u3055\u306a\u91cd\u8907<\/a>\u3092\u4f34\u3046\u56fa\u6709\u306e\u30e1\u30f3\u30d0\u30fc\u3092\u542b\u3081\u30018\u4ef6\u306e\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u3055\u3089\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u30d0\u30f3\u30c914q31\u306e\u5c0f\u3055\u306a\u91cd\u8907<\/a>\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q24.3\u304b\u308914q31\u3078\u3068\u5927\u304d\u306a\u91cd\u8907<\/a>\u3092\u793a\u3057\u3001\u767a\u751f\u306b\u660e\u3089\u304b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3055\u306a\u30443\u5bb6\u7cfb\u306e\u5c11\u306a\u304f\u3068\u308212\u306e\u8fd1\u89aa\u8005\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b(Palmer 2006; Mignon-Ravix 2001; Robin 1997; North 1995; Rivera 1992; Gilgenkrantz 1990\/2; Mikelsaar 1987; Sobel 1984; Nikolis 1983; Orye 1983; Unique)\u3002<\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%90%E3%83%B3%E3%83%8914q222414q32%E3%81%AE%E9%87%8D%E8%A4%87\"><\/span>\u30d0\u30f3\u30c914q22~24~14q32\u306e\u91cd\u8907<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q22~24~14q32\u306e\u91cd\u8907<\/a>\u30bb\u30b0\u30e1\u30f3\u30c8\u3092\u3082\u3064\u4eba\u306e\u5831\u544a\u306b\u306f\u300129\u6b73\u3068\u305d\u306e\u30cd\u30d5\u30fc(Rivera 1992; Gilgenkrantz 1990\/2; Mikelsaar 1987; Sobel 1984; Nikolis 1983; Orye 1983)\u304c\u3042\u308b\u3002 \u7279\u5fb4\u306f\u4e00\u822c\u306b\u3042\u307e\u308a\u7279\u7570\u7684\u3067\u306f\u306a\u304b\u3063\u305f\u304c\u3001\u4f4e\u51fa\u751f\u4f53\u91cd(2.25kg\/4\u30dd\u30f3\u30c915oz~2.9kg\/6\u30dd\u30f3\u30c96oz)\u3001\u5c0f\u5150\u671f\u306e\u77ed\u8eab\u9577\u3001\u767a\u9054\u9045\u6ede\u3001\u8a00\u8a9e\u9045\u5ef6\u304a\u3088\u3073\u5b66\u7fd2\u56f0\u96e3\u306a\u3069\u304c\u3042\u3063\u305f\u3002<br>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u306f\u975e\u5e38\u306b\u6df1\u523b\u3067\u30012\u4eba\u306e\u4e73\u5150\u306b\u5fc3\u81d3\u306e\u554f\u984c(1\u4eba\u306f\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d(VSD)\u30011\u4eba\u306f\u5fc3\u81d3\u306e\u4e0b\u90e8\u5ba4\u306e\u9593\u306e\u7a74)\u304c\u751f\u3058\u3066\u3044\u307e\u3059\u3002 VSD\u306e\u7279\u7570\u7684\u6cbb\u7642\u306f\u3001\u5c0f\u3055\u306a\u7a74\u304c\u81ea\u7136\u306b\u9589\u3058\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u500b\u5225\u306b\u6c7a\u5b9a\u3055\u308c\u308b\u304c\u3001\u5927\u304d\u306aVSD\u306f\u901a\u5e38\u5916\u79d1\u7684\u4fee\u5fa9\u3092\u5fc5\u8981\u3068\u3059\u308b\u3002 1\u4eba\u306e\u5b50\u4f9b\u306f\u91cd\u75c7\u3067\u3001\u5f8c\u90e8\u5c3f\u9053\u5f01(\u8180\u80f1\u304b\u3089\u5c3f\u3092\u6d41\u3059\u5f01\u306e\u9589\u585e)\u3068\u814e\u4e0d\u5168\u3001\u80ba\u306e\u767a\u9054\u4e0d\u5168\u304c\u307f\u3089\u308c\u307e\u3057\u305f\u3002 \u8996\u529b\u306f\u8074\u529b\u3060\u3051\u3067\u306a\u304f\u3001\u306e\u308a\u8033\u306b\u3088\u308b\u4e00\u6642\u7684\u306a\u969c\u5bb3\u3092\u542b\u3081\u3001\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308b\u3002 \u3055\u3089\u306a\u308b\u5c0f\u5150(14q22q24.3\u306e\u91cd\u8907\u3092\u4f34\u3046)\u3067\u306f\u3001\u77ef\u6b63\u624b\u8853(\u7d68\u6bdb\u9589\u9396)\u3001\u514d\u75ab\u4e0d\u5168\u3001\u5927\u304d\u306aVSD\u304a\u3088\u3073\u6027\u5668\u7570\u5e38\u3092\u5fc5\u8981\u3068\u3059\u308b\u9f3b\u8154\u306e\u9589\u585e\u304c\u8a8d\u3081\u3089\u308c\u305f(North 1995)\u3002 \u3053\u306e\u7fa4\u3067\u306f\u30012\u4eba\u306e\u65b0\u751f\u5150\u304c\u6b7b\u4ea1\u3057\u30011\u4eba\u306f4\u304b\u6708\u306b\u6b7b\u4ea1\u3057\u30011\u4eba\u306f10\u304b\u6708\u306b\u6b7b\u4ea1\u3057\u305f\u3002<br>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u624b\u306b\u308f\u305a\u304b\u306b\u7570\u5e38\u306a\u7279\u5fb4\u304c\u307f\u3089\u308c\u3001\u624b\u638c\u30af\u30ea\u30fc\u30ba1\u672c\u3001\u77ed\u6307\u307e\u305f\u306f\u5148\u7d30\u6307\u304c\u307f\u3089\u308c\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q24q32\u91cd\u8907<\/a>\u3092\u4f34\u30462\u4eba\u306e\u4e73\u5150\u3067\u306f\u3001\u9577\u6bcd\u6307\u3068\u4e2d\u6307\u304c\u96a3\u63a5\u3059\u308b\u6307\u3067\u91cd\u306a\u308a\u5408\u3063\u305f\u540c\u69d8\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u307f\u3089\u308c\u305f\u3002 2\u4eba\u306e\u5b50\u4f9b\u304c\u8db3\u3092\u5185\u53cd\u8ddd\u9aa8(\u5185\u53cd\u8db3)\u306b\u3057\u305f\u72b6\u614b\u3067\u751f\u307e\u308c\u3001\u8db3\u306f\u4e0b\u65b9\u3068\u5185\u65b9\u3092\u6307\u3057\u3001\u901a\u5e38\u306f\u624b\u8853\u3067\u77ef\u6b63\u3092\u5fc5\u8981\u3068\u3057\u305f\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q23.3\u306814q32.3\u306e\u9593\u306e\u91cd\u8907<\/a>\u304c\u308f\u305a\u304b\u306b\u5c0f\u3055\u3044\u500b\u4f53\u306b\u7126\u70b9\u3092\u5f53\u3066\u308b\u3068\u3001\u5f71\u97ff\u306f\u4e00\u822c\u7684\u306b\u8efd\u5ea6\u3067\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u767a\u9054\u9045\u5ef6\u306e\u7a0b\u5ea6\u306f\u8efd\u5ea6\u3067\u3042\u3063\u305f\u3002 \u53ef\u52d5\u6027\u306b\u95a2\u3057\u3066\u306f\u3001\u5229\u7528\u53ef\u80fd\u306a\u60c5\u5831\u304b\u3089\u3001\u30ed\u30fc\u30ea\u30f3\u30b0\u30aa\u30fc\u30d0\u30fc\u306f\u7d046\uff5e7\u304b\u6708\u3067\u9054\u6210\u3055\u308c\u3001\u7d049\uff5e15\u304b\u6708\u5ea7\u308a\u30011\u6b73\u306e\u8a95\u751f\u65e5\u524d\u5f8c\u306e\u72ec\u7acb\u3057\u305f\u53ef\u52d5\u6027\u304a\u3088\u30732\u6b73\u306e\u5f8c\u534a\u306e\u6b69\u884c\u3092\u9054\u6210\u3057\u305f\u3002<br>\u3057\u304b\u3057\u3001\u5168\u54e1\u3067\u6b69\u884c\u304c\u4e0d\u53ef\u80fd\u3067\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q22q24.3\u306e\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u5c0f\u5150\u306f\u30014\u5e74\u534a\u306e\u6642\u70b9\u3067\u307e\u3060\u6b69\u884c\u3082\u4f1a\u8a71\u3082\u3057\u3066\u3044\u306a\u304b\u3063\u305f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%90%E3%83%B3%E3%83%8914q3114q32%E5%86%85%E3%81%AE%E5%B0%8F%E3%81%95%E3%81%AA%E9%87%8D%E8%A4%87\"><\/span>\u30d0\u30f3\u30c914q31~14q32\u5185\u306e\u5c0f\u3055\u306a\u91cd\u8907<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30e6\u30cb\u30fc\u30af\u3067\u5165\u624b\u3067\u304d\u308b\u9650\u3089\u308c\u305f\u60c5\u5831\u304b\u3089\u30012\u3064\u306e\u5927\u304d\u306a\u81e8\u5e8a\u7684\u554f\u984c\u304c\u51fa\u73fe\u3057\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u30d0\u30f3\u30c914q32\u5185\u306b\u91cd\u8907<\/a>\u304c\u8a8d\u3081\u3089\u308c\u305f\u5c0f\u51501\u4f8b\u306b\u6b20\u795e\u767a\u4f5c\u304c\u767a\u73fe\u3057\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3055\u308c\u305f\u3002 \u3082\u3046\u4e00\u4eba\u306e\u5b50\u4f9b\u306f\u307e\u3076\u305f\u304c\u77ed\u304f\u3001\u76ee\u3092\u9589\u3058\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3057\u305f\u3002 \u3053\u306e\u72b6\u614b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u3092\u4f34\u3046\u4ed6\u306e\u60a3\u8005\u306b\u307f\u3089\u308c\u3001\u5916\u79d1\u7684\u77ef\u6b63\u3092\u5fc5\u8981\u3068\u3057\u3001\u305d\u306e\u5f8c\u8996\u529b\u306f\u6b63\u5e38\u306b\u767a\u9054\u3059\u308b\u3088\u3046\u3067\u3042\u308b(\u30d8\u30a4\u30ea\u30fc\u300112~13\u30da\u30fc\u30b8\u53c2\u7167)\u3002<br>\u767a\u9054\u3082\u5f71\u97ff\u3092\u53d7\u3051\u30012\u5e74\u76ee\u307e\u305f\u306f3\u5e74\u76ee\u306b\u306f\u3001\u53ef\u52d5\u6027\u306e\u4e2d\u7b49\u5ea6\u306e\u9045\u308c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b(\u7b4b\u7dca\u5f35\u4f4e\u4e0b)\u304a\u3088\u3073\u6b69\u884c\u304c\u9054\u6210\u3055\u308c\u305f\u3002 \u30d5\u30a1\u30a4\u30f3\u30fb\u30e2\u30fc\u30bf\u30fc\u30fb\u30b9\u30ad\u30eb\u306b\u95a2\u3059\u308b\u5177\u4f53\u7684\u306a\u60c5\u5831\u306f\u306a\u3044\u304c\u30011\u4eba\u306e\u5c0f\u5150\u304c7\u5e74\u5f8c\u306b\u7b46\u8a18\u3059\u308b\u306e\u306b\u925b\u7b46\u3092\u63e1\u308b\u306e\u304c\u8457\u3057\u304f\u56f0\u96e3\u3067\u3042\u3063\u305f\u3002 \u8aad\u307f\u306e\u5e74\u9f62\u306f\u3001\u3053\u308c\u3089\u306e\u5c0f\u5150\u304c3~4\u6b73\u306e\u9593\u306b\u8a71\u3092\u3057\u3066\u3044\u305f6~8\u6b73\u3067\u8aad\u307f\u59cb\u3081\u305f\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002 4\u5e74\u304f\u3089\u3044\u524d\u304b\u3089\u6bce\u65e5\u6e05\u6f54\u3067\u4e7e\u71e5\u3059\u308b\u3053\u3068\u306b\u6210\u529f\u3057\u305f(\u30e6\u30cb\u30fc\u30af)\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E8%A4%87%E3%81%8C%E3%81%BF%E3%82%89%E3%82%8C%E3%80%81%E6%98%8E%E3%82%89%E3%81%8B%E3%81%AA%E5%8A%B9%E6%9E%9C%E3%81%8C%E3%81%BF%E3%82%89%E3%82%8C%E3%81%AA%E3%81%84%E5%AE%B6%E7%B3%BB\"><\/span>\u91cd\u8907\u304c\u307f\u3089\u308c\u3001\u660e\u3089\u304b\u306a\u52b9\u679c\u304c\u307f\u3089\u308c\u306a\u3044\u5bb6\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3042\u308b\u5bb6\u7cfb\u3067\u306f\u30016\u4eba\u306e\u30e1\u30f3\u30d0\u30fc\u304c\u6bcd\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u30d0\u30f3\u30c9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q31\u306e\u540c\u3058\u91cd\u8907<\/a>\u3092\u6301\u3063\u3066\u3044\u305f\u304c\u30015\u4eba\u306e\u30b1\u30fc\u30b9\u3067\u306f\u767a\u751f\u3084\u6210\u9577\u306b\u660e\u3089\u304b\u306a\u5f71\u97ff\u306f\u306a\u304b\u3063\u305f\u3002 6\u756a\u76ee\u306e\u30d5\u30a1\u30df\u30ea\u30fc\u30e1\u30f3\u30d0\u30fc\u3067\u306f\u3001\u91cd\u8907\u306f\u304a\u305d\u3089\u304f\u5f7c\u306e\u767a\u9054\u9045\u5ef6\u306b\u4f55\u306e\u5f79\u5272\u3082\u679c\u305f\u3055\u306a\u304b\u3063\u305f(Mignon-Ravix 2001)\u3002 \u5225\u306e\u30d5\u30a1\u30df\u30ea\u30fc\u3067\u306f\u30014\u4eba\u306e\u30e1\u30f3\u30d0\u30fc\u304c\u30d0\u30f3\u30c9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q31\u306e\u4e00\u90e8\u306e\u5c0f\u3055\u306a\u91cd\u8907<\/a>\u3092\u6301\u3063\u3066\u3044\u305f\u3002 \u500b\u3005\u306e\u5bb6\u7cfb\u54e1\u306f\u767a\u9054\u9045\u5ef6\u3084\u767d\u5185\u969c\u306a\u3069\u69d8\u3005\u306a\u554f\u984c\u3092\u62b1\u3048\u3066\u3044\u305f\u304c\u3001\u91cd\u8907\u3092\u6709\u3059\u308b1\u4eba\u306e\u5bb6\u7cfb\u54e1\u306f\u81e8\u5e8a\u7684\u304a\u3088\u3073\u767a\u9054\u7684\u306b\u6b63\u5e38\u3067\u3042\u3063\u305f\u305f\u3081\u3001\u767a\u898b\u3055\u308c\u305f\u5c0f\u3055\u306a\u91cd\u8907\u306f\u304a\u305d\u3089\u304f\u554f\u984c\u306e\u539f\u56e0\u3067\u306f\u306a\u304b\u3063\u305f(Palmer 2006)\u3002 \u7236\u89aa\u306e1\u4eba\u3067\u306f\u3001\u7236\u89aa\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q24.3q31\u306e\u91cd\u8907<\/a>\u3092\u3082\u3064\u5a18\u306e\u5bfe\u3067\u3042\u308a\u3001\u7236\u89aa\u306f\u5f71\u97ff\u3092\u53d7\u3051\u305a\u3001\u5a18\u306f\u8efd\u5ea6\u3067\u3042\u3063\u305f(Robin 1997)\u3002<br>\u3053\u308c\u3089\u306e\u6240\u898b\u306e\u3044\u304f\u3064\u304b\u306e\u8aac\u660e\u3068\u3057\u3066\u3001\u8907\u88fd\u304c\u8d77\u6e90\u306e\u89aa\u306b\u4f9d\u5b58\u3057\u3066\u7570\u306a\u308b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u8003\u3048\u3089\u308c\u308b(14q\u306e\u4f59\u5206\u306a\u65ad\u7247\u304c\u3069\u306e\u89aa\u306b\u7531\u6765\u3059\u308b\u304b\u3092\u898b\u3088)\u3002 3\u30da\u30fc\u30b8<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q13%E3%81%8B%E3%82%8914q243%E3%81%BE%E3%81%A7%E3%81%AE%E9%95%B7%E3%81%84%E8%85%95%E3%81%AE%E6%9C%AB%E7%AB%AF%E3%81%AE%E5%A4%A7%E3%81%8D%E3%81%AA%E9%87%8D%E8%A4%87\"><\/span>14q13\u304b\u308914q24.3\u307e\u3067\u306e\u9577\u3044\u8155\u306e\u672b\u7aef\u306e\u5927\u304d\u306a\u91cd\u8907<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-d.png\" alt=\"\" class=\"wp-image-18303\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u533b\u5b66\u6587\u732e\u3067\u306f\u300111\u4eba\u306e\u8d64\u3061\u3083\u3093\u3068\u598a\u5a20\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30e6\u30cb\u30fc\u30af\u306a\u3082\u306e\u306b\u306f\u300114q13\u304b\u308914q24.3\u306e\u9593\u306b\u59cb\u307e\u308b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f5314q\u306e\u9577\u8155\u306e\u7d14\u7c8b\u306a\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b3\u4eba\u306e\u30e1\u30f3\u30d0\u30fc\u304c\u3042\u308b\u3002 \u3053\u308c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e3\u5206\u306e1\u304b\u30893\u5206\u306e2\u306e\u9593\u306e\u91cd\u8907<\/a>\u306b\u76f8\u5f53\u3059\u308b\u3002 \u591a\u304f\u306e\u5834\u5408\u3001\u91cd\u8907\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5225\u306e\u67d3\u8272\u4f53\u304b\u3089\u306e\u6b20\u5931\u307e\u305f\u306f\u91cd\u8907<\/a>\u3068\u3068\u3082\u306b\u8d77\u3053\u308b\u304c\u3001\u3053\u3053\u3067\u306f\u7d14\u7c8b\u306a\u91cd\u8907\u3092\u3082\u3064\u500b\u4f53\u3001\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">13\u756a\u300114\u756a\u300115\u756a\u300121\u756a\u300122\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u3092\u542b\u3080\u91cd\u8907<\/a>\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u500b\u4f53\u306e\u307f\u304c\u8a18\u8f09\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306f\u8ee2\u5e30\u306b\u5f71\u97ff\u3059\u308b\u3068\u306f\u4e88\u60f3\u3055\u308c\u306a\u3044\u3002 \u6b21\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u3092\u6301\u3064\u56fa\u6709\u30e1\u30f3\u30d0\u306e\u500b\u3005\u306e\u30b9\u30c8\u30fc\u30ea\u30fc\u3068\u3001\u6b20\u5931\u307e\u305f\u306f\u305d\u308c\u4ee5\u4e0a\u306e\u91cd\u8907\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u3082\u306e\u304c\u7d9a\u304f\u3002<br>\u4e00\u822c\u7684\u306b\u3001\u30e6\u30cb\u30fc\u30af\u306a\u7d4c\u9a13\u306f\u3001\u305d\u306e\u30e1\u30f3\u30d0\u30fc\u304c\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u63cf\u5199\u3088\u308a\u3082\u826f\u597d\u3067\u3042\u308b\u3053\u3068\u3067\u3042\u308b(Ohtake 1994; Duckett 1990; Nakamura 1990; Gilgenkrantz 1990\/1; McCorquodale 1985; Kaiser 1984; Sklower 1984; Atkin 1983; Cohen 1983; Georgmaneanu 1981; Pfeiffer 1978; Fryns 1977; Trunca 1977; Weinstein 1977; Unique)\u3002<br>8\u56de\u306e\u598a\u5a20\u306e\u3046\u3061\u30012\u56de\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u3067\u7d42\u308f\u3063\u305f\u3002 \u6b63\u671f\u7523\u5150\u306e\u51fa\u751f\u6642\u4f53\u91cd\u306f1.83kg(4lb 1oz)\u304b\u30893.8kg(8lb 6oz)\u306e\u7bc4\u56f2\u3067\u3042\u308a\u3001\u65b0\u751f\u5150\u306e\u5e73\u5747\u4f53\u91cd\u3088\u308a\u3082\u9ad8\u304b\u3063\u305f\u3002 \u591a\u304f\u306e\u8d64\u3093\u574a\u304c\u77ed\u3044\u5b50\u4f9b\u306b\u6210\u9577\u3057\u305f\u3002 \u6b8b\u5ff5\u306a\u3053\u3068\u306b\u3001\u591a\u304f\u306e\u8d64\u3093\u574a\u306f\u3001\u7279\u306b14\u4eba\u4e2d7\u4eba\u3067\u8d77\u3053\u3063\u305f\u5fc3\u81d3\u306e\u6b20\u9665\u3084\u5927\u8840\u7ba1\u306e\u7570\u5e38\u3092\u514b\u670d\u3059\u308b\u305f\u3081\u306b\u5927\u304d\u306a\u533b\u5b66\u7684\u554f\u984c\u3092\u62b1\u3048\u3066\u3044\u308b\u3002<\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u533b\u5b66\u6587\u732e\u3067\u306f\u3001\u8179\u90e8\u306e\u5185\u5bb9\u7269\u3092\u80f8\u90e8\u304b\u3089\u9694\u3066\u3066\u3044\u308b\u6a2a\u9694\u819c\u306e\u5927\u304d\u306a\u30d8\u30eb\u30cb\u30a2\u3001\u591a\u767a\u6027\u56a2\u80de\u3092\u4f34\u3046\u5c0f\u3055\u306a\u814e\u81d3\u3001\u8133\u6881(\u8133\u306e2\u3064\u306e\u534a\u7403\u3092\u3064\u306a\u3050\u5e83\u3044\u795e\u7d4c\u7dda\u7dad\u5e2f)\u306e\u6b20\u5982\u3001\u3051\u3044\u308c\u3093\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u6df1\u523b\u306a\u554f\u984c\u304c\u898b\u3089\u308c\u3066\u3044\u307e\u3059\u3002 \u3055\u3089\u306b\u30012\u4eba\u306e\u5973\u5150\u3092\u542b\u30804\u4eba\u306e\u65b0\u751f\u5150\u304c\u751f\u6b96\u5668\u9818\u57df\u306b\u7570\u5e38\u3092\u6709\u3057\u3001\u5c11\u306a\u304f\u3068\u30821\u4eba\u306f\u91cd\u5ea6\u306e\u8996\u899a\u6b20\u640d\u3092\u6709\u3057\u3066\u3044\u305f\u3002 \u6b8b\u5ff5\u306a\u3053\u3068\u306b\u3001\u751f\u5f8c\u6570\u304b\u6708\u306e\u9593\u306b2\u4eba\u306e\u65b0\u751f\u5150\u304c\u6b7b\u4ea1\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5225\u306e\u67d3\u8272\u4f53\u306e\u6b20\u5931\u307e\u305f\u306f\u91cd\u8907<\/a>\u3092\u4f34\u30462\u3064\u306e\u30e6\u30cb\u30fc\u30af\u306a\u30e1\u30f3\u30d0\u30fc\u3082\u3001\u3044\u305a\u308c\u306e\u5834\u5408\u3082\u547c\u5438\u5668\u611f\u67d3\u306e\u7d50\u679c\u3068\u3057\u3066\u6b7b\u4ea1\u3057\u305f\u3002<br>\u4e21\u624b\u8db3\u306e\u308f\u305a\u304b\u306a\u5947\u5f62\u3001\u304a\u3088\u3073\u7279\u5b9a\u306e\u9854\u306e\u7279\u5fb4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u6709\u3059\u308b\u4e73\u5150\u304a\u3088\u3073\u5c0f\u5150\u3067\u306f\u4e00\u822c\u7684\u3067\u3042\u308b\u304c\u3001\u5b50\u4f9b\u306e\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5834\u5408\u3001\u4e3b\u306b\u5bb6\u65cf\u306b\u95a2\u5fc3\u304c\u3082\u305f\u308c\u308b\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\"> 14q\u306e\u91cd\u8907<\/a>\u304c\u5927\u304d\u3044\u4e73\u5150\u3067\u306f\u3001\u7b2c5\u6307\u3068\u6307\u3068\u8db3\u6307\u306e\u91cd\u8907\u304c\u307f\u3089\u308c\u30011\u4eba\u306e\u4e73\u5150\u306b\u5916\u53cd\u8e35\u9aa8(\u5185\u53cd\u8db3)\u304c\u307f\u3089\u308c\u3001\u8db3\u304c\u5916\u5074\u3068\u4e0b\u65b9\u3092\u5411\u304f\u4f4d\u7f6e\u5909\u5f62\u3067\u3042\u308b\u3002 \u89b3\u5bdf\u3055\u308c\u305f\u7570\u5e38\u306a\u9854\u8c8c\u306e\u4e2d\u306b\u306f\u3001\u9855\u8457\u306a\u984d\u3001\u9855\u8457\u306a\u9f3b\u3001\u5c0f\u3055\u306a\u984e\u3001\u4e0b\u984e\u3001\u7570\u5e38\u306a\u8033\u3001\u7a81\u51fa\u3057\u305f\u4e0a\u5507\u3001\u9ad8\u3044\u984d\u3001\u6cc9\u9580(\u982d\u9802\u90e8\u306e\u67d4\u3089\u304b\u3044\u6591\u70b9)\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306f\u9589\u3058\u308b\u306e\u304c\u9045\u304f\u3001\u4e0b\u5411\u304d\u306b\u306a\u308a\u3001\u773c\u306f\u5e83\u304f\u96e2\u308c\u3066\u304a\u308a\u3001\u304a\u305d\u3089\u304f\u307e\u3070\u3089\u306a\u6bdb\u9aea\u6210\u9577\u3092\u793a\u3057\u305f\u3002<br>\u53e3\u84cb\u306f\u7570\u5e38\u306b\u9ad8\u304f\u306a\u3063\u305f\u308a\u72ed\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002 1\u4eba\u306e\u4e73\u5150\u306b\u307f\u3089\u308c\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u6240\u898b\u306f\u3001\u4e0b\u773c\u77bc\u306e\u767a\u9054\u7570\u5e38\u3067\u3001\u773c\u3092\u9589\u3058\u308b\u3053\u3068\u304c\u56f0\u96e3\u307e\u305f\u306f\u4e0d\u53ef\u80fd\u306b\u306a\u308a\u3001\u5916\u79d1\u7684\u77ef\u6b63\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002 \u3053\u306e\u6b20\u9665\u306f14q\u306e\u672b\u7aef\u91cd\u8907\u304c\u5c0f\u3055\u30442\u3064\u306e\u30e6\u30cb\u30fc\u30af\u306a\u30e1\u30f3\u30d0\u30fc\u306b\u3082\u898b\u3089\u308c\u305f(Gilgenkrantz 1990\u3001\u30d8\u30a4\u30ea\u30fc\u300112~3\u30da\u30fc\u30b8\u53c2\u7167)\u3002<br>\u307b\u3068\u3093\u3069\u306e\u65b0\u751f\u5150\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b(\u7b4b\u7dca\u5f35\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u7b4b\u529b\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u3068\u611f\u3058\u3066\u3044\u308b)\u304b\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3068\u7b4b\u7dca\u5f35\u4ea2\u9032\u304c\u6df7\u5728\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u7b4b\u7dca\u5f35\u304c\u4ea2\u9032\u3057\u3066\u3044\u305f\u3002 \u767a\u9054\u304c\u9045\u308c\u3001\u5ea7\u308b\u306a\u3069\u306e\u767a\u9054\u4e0a\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u3092\u9054\u6210\u3059\u308b\u305f\u3081\u306b\u3001\u8d64\u3093\u574a\u306f\u304b\u306a\u308a\u306e\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3057\u305f\u3002<br>\u9060\u4f4d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u91cd\u8907<\/a>\u304c\u5927\u304d\u3044\u5c0f\u5150\u306e\u5f8c\u671f\u767a\u751f\u306b\u95a2\u3059\u308b\u60c5\u5831\u306f\u9650\u3089\u308c\u3066\u3044\u308b\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q21\u304b\u3089\u306e\u5927\u304d\u306a\u91cd\u8907<\/a>\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">3\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u672b\u7aef\u304b\u3089\u306e\u5c0f\u3055\u306a\u6b20\u5931<\/a>(3p25\u306e\u5207\u65ad\u70b9)\u3092\u6709\u3059\u308b1\u4eba\u306e\u82e5\u5e74\u7537\u6027\u304c27\u6b73\u3067\u8a18\u8f09\u3055\u308c\u305f\u3002 \u5f7c\u306e\u5834\u5408\u3001\u5f7c\u306f\u601d\u6625\u671f\u3092\u6b63\u5e38\u306b\u904e\u304e\u305f\u304c\u3001\u4e88\u60f3\u3088\u308a10\u5e74\u9045\u308c\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%B3%E3%83%89%E3%83%AA%E3%83%A5%E3%83%BC\"><\/span>\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u7b2c1\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u304b\u3089\u6b20\u5931<\/a>\u304c\u3042\u308a\u30011q44\u306b\u5207\u65ad\u70b9\u304c\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u7b2c14\u67d3\u8272\u4f53\u9577\u8155\u306e\u7d043\u5206\u306e1\u304c\u91cd\u8907<\/a>\u3057\u300114q24.3\u306b\u5207\u65ad\u70b9\u304c\u3042\u308b\u3002<br>\u51fa\u751f\u6642\u3001\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306f2.4kg(5\u30dd\u30f3\u30c95\u30aa\u30f3\u30b9)\u3068\u3084\u3084\u4f4e\u4f53\u91cd\u3067\u3001\u7b4b\u7dca\u5f35\u306f\u7570\u5e38\u306b\u4f4e\u304b\u3063\u305f\u3002 \u6bcd\u4e73\u3092\u4e0e\u3048\u3089\u308c\u305f\u304c\u3001\u6388\u4e73\u306f\u9045\u304f\u3001\u6210\u9577\u7387\u306f\u751f\u5f8c9\u304b\u6708\u9593\u3001\u6210\u9577\u66f2\u7dda\u4e0a\u3067\u6700\u4f4e\u306e\u66f2\u7dda\u3092\u8ffd\u8de1\u3057\u3001\u56fa\u5f62\u98df\u306b\u5165\u308a\u3001\u8ffd\u3044\u3064\u304d\u59cb\u3081\u305f\u3002 10\u6b73\u306e\u3068\u304d\u5f7c\u306f\u5b66\u6821\u306e\u53cb\u9054\u3088\u308a\u3080\u3057\u308d\u77ed\u304b\u3063\u305f\u304c\u4f53\u91cd\u306f27\u30ad\u30ed\u30674\u77f3\u5f37\u3067\u3042\u3063\u305f\u3002<br>\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306f\u4e00\u822c\u306b\u5065\u5eb7\u3067\u3001\u5e7c\u3044\u5b50\u4f9b\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u98a8\u90aa\u3084\u305b\u304d\u306e\u6b63\u5e38\u7bc4\u56f2\u3092\u6355\u3089\u3048\u3066\u3044\u307e\u3059\u3002 \u6d99\u7ba1\u306e\u611f\u67d3\u75c7\u306f\u6297\u751f\u7269\u8cea\u3067\u6cbb\u7642\u3057\u307e\u3059\u3002 \u5f7c\u306f\u773c\u93e1\u3092\u304b\u3051\u3066\u3044\u305f\u30025\u6b73\u306e\u3068\u304d\u306b\u7cbe\u5de3\u3092\u4e0b\u308d\u3059\u624b\u8853\u3092\u53d7\u3051\u305f\u3002\u7cbe\u5de3\u306f\u9670\u56a2\u306b\u4e0b\u304c\u3063\u3066\u3044\u306a\u304b\u3063\u305f\u3002 \u5f7c\u306f\u53e3\u306e\u524d\u306b\u5c0f\u3055\u306a\u6b6f\u3092\u6301\u3063\u3066\u751f\u307e\u308c\u305f\u3002\u3053\u308c\u3089\u306f\u6700\u7d42\u7684\u306b\u306f\u5265\u304c\u308c\u3001\u6210\u4eba\u306e\u6b6f\u306f\u6b63\u5e38\u306a\u6642\u306b\u5165\u3063\u305f\u3002<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"441\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-e.jpg\" alt=\"\" class=\"wp-image-18305\"\/><figcaption class=\"wp-element-caption\">2\u6b73<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"415\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-f.jpg\" alt=\"\" class=\"wp-image-18307\"\/><figcaption class=\"wp-element-caption\">3~4\u6b73<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306e\u5168\u822c\u7684\u306a\u767a\u9054\u306f\u9045\u308c\u3066\u3044\u308b\u304c\u30019\u6b73\u4ee5\u964d\u304b\u306a\u308a\u306e\u9032\u6b69\u3092\u9042\u3052\u3066\u3044\u308b\u3002 10\u6b73\u3067\u306f\u3001\u4f9d\u7136\u3068\u3057\u3066\u500b\u4eba\u7684\u306a\u30b1\u30a2\u3092\u5fc5\u8981\u3068\u3057\u3066\u3044\u305f\u304c\u3001\u30d5\u30a9\u30fc\u30af\u3067\u98df\u3079\u305f\u308a\u3001\u5bc6\u9589\u3055\u308c\u305f\u30ab\u30c3\u30d7\u304b\u3089\u4e00\u4f53\u306e\u30b9\u30c8\u30ed\u30fc\u3067\u98f2\u3093\u3060\u308a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002 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\u3082\u3057\u4eba\u3005\u304c\u81ea\u5206\u306e\u500b\u4eba\u7684\u7a7a\u9593\u3092\u4fb5\u7565\u3059\u308b\u306a\u3089\u3001\u653b\u6483\u306e\u70b9\u3092\u5f37\u304f\u4e3b\u5f35\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u304c\u3001\u5f7c\u306e\u5bb6\u65cf\u306f\u3001\u826f\u3044\u884c\u52d5\u3092\u8cde\u8cdb\u3057\u3001\u30a2\u30f3\u30c9\u30eb\u30fc\u304c\u8fd1\u3059\u304e\u308b\u3053\u3068\u306b\u4e0d\u5feb\u3067\u3042\u308b\u3053\u3068\u3092\u4ed6\u4eba\u306b\u7406\u89e3\u3055\u305b\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u3053\u308c\u3092\u7ba1\u7406\u3059\u308b\u3002<br>\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306e\u6700\u521d\u306e\u8a00\u8a9e\u306f\u7f72\u540d\u3057\u3066\u304a\u308a\u30015\u6b73\u306b\u306a\u308b\u3068400\u8a9e\u4ee5\u4e0a\u306e\u8a9e\u5f59\u3092\u6301\u3063\u3066\u3044\u305f\u3002 10\u6642\u306b\u306f\u3001\u307e\u3060\u6163\u308c\u3066\u3044\u306a\u3044\u4eba\u305f\u3061\u3068\u306e\u9593\u3067\u3001\u7f72\u540d\u304c\u6c7a\u307e\u3063\u3066\u3044\u305f\u3002 9\u6b73\u4ee5\u964d\u3001\u5f7c\u306f\u307e\u3059\u307e\u3059\u767a\u58f0\u3057\u59cb\u3081\u3001\u6642\u306b\u306f\u9577\u304f\u8907\u96d1\u306a\u6587\u7ae0\u3092\u4f7f\u3044\u59cb\u3081\u305f\u304c\u3001\u5f7c\u306e\u767a\u8a00\u306f\u307e\u3060\u672a\u719f\u3067\u3001\u307e\u3060\u591a\u304f\u306e\u5b50\u97f3\u304c\u5b8c\u5168\u306b\u767a\u9054\u3057\u3066\u3044\u306a\u3044\u3002 \u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306e\u7406\u89e3\u306f\u3001\u81ea\u5206\u3092\u8868\u73fe\u3059\u308b\u80fd\u529b\u3088\u308a\u306f\u308b\u304b\u306b\u5927\u304d\u3044\u304c\u3001\u5f7c\u306f\u3001\u4f8b\u3048\u3070\u300c\u4eca\u30c6\u30fc\u30d6\u30eb\u3092\u96e2\u308c\u3066\u3082\u3044\u3044\u3067\u3059\u304b?\u300d\u3068\u5c0b\u306d\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306f\u71b1\u5fc3\u3067\u6210\u529f\u3057\u305f\u5b66\u7fd2\u8005\u3067\u3042\u308b\u3002 \u5f7c\u306f\u3001IntelliKeys\u30ad\u30fc\u30dc\u30fc\u30c9\u3092\u5099\u3048\u305f\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u3092\u4f7f\u3044\u3001\u30bf\u30b9\u30af\u304c\u6545\u969c\u3057\u305f\u3068\u304d\u306b\u3088\u304f\u5b66\u7fd2\u3057\u3001\u5968\u52b1\u3055\u308c\u308b\u3002 \u5f7c\u306f\u540d\u524d\u3068\u9854\u306e\u8a18\u61b6\u304c\u3042\u308b\u3002 \u5f15\u7d99\u304e\u30ac\u30a4\u30c0\u30f3\u30b9\u3092\u6271\u3046\u9650\u308a\u3001\u30a2\u30f3\u30c9\u30ea\u30e5\u30fc\u306f\u6587\u7ae0\u3092\u66f8\u304d\u3001\u6570\u5b66\u3092\u5b66\u3076\u3053\u3068\u304c\u3067\u304d\u308b\u3002 \u305f\u3060\u3072\u3068\u308a\u3067\u306f\u3001\u3072\u3068\u3064\u3068\u3072\u3068\u3064\u304c\u7b49\u3057\u3044\u3053\u3068\u3092\u3042\u306a\u305f\u306b\u544a\u3052\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002 \u3057\u304b\u3057\u3001\u3053\u306e\u30ac\u30a4\u30c0\u30f3\u30b9\u3067\u306f\u300112\u56de\u306e\u8868\u3068\u9664\u7b97\u306b\u52a0\u7b97\u3001\u6e1b\u7b97\u3001\u4e57\u7b97\u3092\u884c\u3046\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<br>\u5f7c\u306f\u8b58\u5b57\u7387\u304c\u9ad8\u3044\u3002 8\u6b73\u306e\u3068\u304d\u3001\u5f7c\u306e\u7db4\u308a\u306e\u5e74\u9f62\u306f\u5f7c\u306e\u5b9f\u969b\u306e\u5e74\u9f62\u3088\u308a\u3082\u304b\u306a\u308a\u9ad8\u304b\u3063\u305f\u3002 10\u6642\u306b\u306f\u3001\u5b50\u3069\u3082\u306e\u672c\u3001\u65b0\u805e\u306e\u898b\u51fa\u3057\u3001\u30c6\u30ec\u30d3\u30ac\u30a4\u30c9\u3001\u5b50\u3069\u3082\u306e\u7948\u308a\u3001\u8056\u66f8\u3092\u8aad\u3080\u3053\u3068\u304c\u3067\u304d\u305f\u3002 \u5f7c\u306e\u5bb6\u65cf\u306f\u3001\u4e00\u4eba\u3067\u8aad\u3093\u3060\u3068\u304d\u306e\u8a55\u4fa1\u306f\u96e3\u3057\u3044\u3068\u8a00\u3063\u3066\u3044\u308b\u304c\u300111\u6b73\u307e\u3067\u306b\u30d9\u30c3\u30c9\u3067\u8aad\u3093\u3067\u3044\u308b\u3068\u304d\u306b\u306f\u3001\u5f7c\u3089\u306b\u53bb\u3063\u3066\u884c\u304f\u3088\u3046\u306b\u8a00\u3063\u3066\u3044\u305f\u3002<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"496\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-g.jpg\" alt=\"\" class=\"wp-image-18309\"\/><figcaption class=\"wp-element-caption\">8\u6b73<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-bottom is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"590\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-h.jpg\" alt=\"\" class=\"wp-image-18311\"\/><figcaption class=\"wp-element-caption\">10\u6b73<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q31%E3%81%BE%E3%81%9F%E3%81%AF14q32%E3%81%8B%E3%82%89%E5%A7%8B%E3%81%BE%E3%82%8B%E9%95%B7%E3%81%84%E8%85%95%E3%81%AE%E6%9C%AB%E7%AB%AF%E3%81%AE%E5%B0%8F%E3%81%95%E3%81%AA%E9%87%8D%E8%A4%87\"><\/span>14q31\u307e\u305f\u306f14q32\u304b\u3089\u59cb\u307e\u308b\u9577\u3044\u8155\u306e\u672b\u7aef\u306e\u5c0f\u3055\u306a\u91cd\u8907<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-i.png\" alt=\"\" class=\"wp-image-18313\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u30d0\u30f3\u30c914q31\u304b\u3089\u59cb\u307e\u308b\u9577\u8155\u672b\u7aef\u306e\u7d14\u7c8b\u306a\u8907\u88fd\u3092\u4f34\u3046\u30013\u4eba\u306e\u6210\u4eba\u3001\u6700\u3082\u5e74\u9577\u306e29\u6b73\u3001\u304a\u3088\u30733\u4eba\u306e\u5c0f\u5150\u304c\u533b\u5b66\u6587\u732e\u306b\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u3002 \u30e6\u30cb\u30fc\u30af\u306e\u30e1\u30f3\u30d0\u30fc\u306e\u4e2d\u3067\u30011\u4eba\u306e\u5b50\u4f9b\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q32\u304b\u3089\u306e\u7d14\u7c8b\u306a\u91cd\u8907<\/a>\u3092\u3082\u3061\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u6b20\u5931\u307e\u305f\u306f\u91cd\u8907<\/a>(2\u30014\u30015\u30016\u30019\u300115\u300118\u307e\u305f\u306f22)\u3068\u540c\u69d8\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u9060\u4f4d\u91cd\u8907<\/a>\u3092\u3082\u3064\u5b50\u4f9b\u3082\u591a\u3044(Palmer 2006; Sutton 2002; Mignon-Ravix 2001; Magnani 1993; Masada 1989; Carr 1986; Trunca 1977; Weinstein 1977; Unique)\u3002<br>\u533b\u5b66\u6587\u732e\u306e\u5831\u544a\u304b\u3089\u3001\u767a\u80b2\u9045\u5ef6\u306f\u51fa\u751f\u524d\u5f8c\u3067\u3088\u304f\u307f\u3089\u308c\u3001\u975e\u5e38\u306b\u9855\u8457\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u30011\u4f8b\u306e24\u6b73\u304c8\u6b73\u306e\u5e73\u5747\u8eab\u9577\u3067\u3042\u3063\u305f\u3002 \u767a\u80b2\u9045\u5ef6\u306f\u4e00\u8cab\u3057\u3066\u3044\u306a\u3044\u304c\u30013\u4eba\u306e\u65b0\u751f\u5150\u306f\u6b63\u5e38\u51fa\u751f\u4f53\u91cd\u3067\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q32.1\u304b\u3089\u91cd\u8907<\/a>\u3057\u305f5\u6b73\u306e\u65b0\u751f\u5150\u306f\u6b63\u5e38\u306a\u4f53\u91cd\u304a\u3088\u3073\u8eab\u9577\u3067\u3042\u3063\u305f\u3002<br>\u767a\u9054\u9045\u5ef6\u306e\u7a0b\u5ea6\u3082\u4e88\u60f3\u3055\u308c\u308b\u3002 \u30ed\u30fc\u30ea\u30f3\u30b0\u30aa\u30fc\u30d0\u30fc\u3068\u5ea7\u4f4d\u306e\u767a\u9054\u4e0a\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306b\u5230\u9054\u3059\u308b\u306e\u306b\u8457\u3057\u3044\u9045\u308c\u304c\u89b3\u5bdf\u3055\u308c\u3001\u5c11\u306a\u304f\u3068\u30822\u4eba\u304c\u95a2\u7bc0\u3092\u5f37\u304f\u53ce\u7e2e\u3057\u305f;1\u4eba\u306e\u6210\u4eba\u306f\u6b69\u304f\u3053\u3068\u304c\u3067\u304d\u306a\u304b\u3063\u305f\u3002 \u5b66\u7fd2\u80fd\u529b\u306b\u95a2\u3059\u308b\u60c5\u5831\u306f\u307b\u3068\u3093\u3069\u5f97\u3089\u308c\u3066\u3044\u306a\u3044\u304c\u30011\u4eba\u306e\u5b50\u4f9b\u304c3\u6b73\u307e\u3067\u306b\u3044\u304f\u3064\u304b\u306e\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u304c\u3067\u304d\u30011\u4eba\u306e\u6210\u4eba\u304c11\u6b73\u306e\u5b50\u4f9b\u306e\u30ec\u30d9\u30eb\u3067\u6a5f\u80fd\u3057\u3066\u3044\u305f\u304c\u3001\u5225\u306e\u6210\u4eba\u306f\u8a71\u3059\u3053\u3068\u304c\u3067\u304d\u306a\u304b\u3063\u305f\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f\u4e00\u822c\u7684\u306b\u5065\u5eb7\u3067\u3042\u3063\u305f\u304c\u30011\u4eba\u306e\u5c0f\u5150\u306b\u306f\u5fc3\u81d3\u3068\u5927\u8840\u7ba1\u306e\u8907\u96d1\u306a\u5947\u5f62\u3001\u810a\u9ac4\u3092\u9732\u51fa\u3055\u305b\u308b\u795e\u7d4c\u7ba1\u306e\u6b20\u640d(\u8170\u4ed9\u9aa8\u9ac4\u9ac4\u819c\u7624)\u3001\u304a\u3088\u3073\u8133\u306e2\u3064\u306e\u534a\u7403\u3092\u901a\u5e38\u9023\u7d50\u3059\u308b\u795e\u7d4c\u7dda\u7dad\u306e\u5e83\u3044\u5e2f\u57df\u3067\u3042\u308b\u8133\u6881\u306e\u4e00\u90e8\u6b20\u640d\u3092\u4f34\u3046\u5927\u8133\u5947\u5f62\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q32.1\u306e\u30e2\u30b6\u30a4\u30af\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b19\u6b73\u306e\u5973\u6027\u3001\u3059\u306a\u308f\u3061\u3001\u91cd\u8907\u3092\u4f34\u3046\u7d30\u80de\u3092\u8eab\u4f53\u306b\u6709\u3057\u3001\u4ed6\u306e\u6b63\u5e38\u306a\u67d3\u8272\u4f53\u69cb\u6210\u3092\u6709\u3059\u308b\u5973\u6027\u306f\u3001\u983b\u7e41\u306b\u6c17\u9053\u611f\u67d3\u75c7\u304a\u3088\u3073\u767a\u4f5c\u6027\u75be\u60a3\u3092\u6709\u3057\u3066\u3044\u305f\u3002<br>\u4e00\u822c\u7684\u306b\u3001\u30e6\u30cb\u30fc\u30af\u306e\u7d4c\u9a13\u306f\u3001\u533b\u5b66\u6587\u732e\u306e\u63cf\u5199\u304c\u793a\u5506\u3059\u308b\u3088\u308a\u3082\u30e1\u30f3\u30d0\u30fc\u306e\u65b9\u304c\u512a\u308c\u3066\u3044\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%99%E3%83%83%E3%82%AD%E3%83%BC\"><\/span>\u30d9\u30c3\u30ad\u30fc<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"373\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-j.jpg\" alt=\"\" class=\"wp-image-18315\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u30d9\u30c3\u30ad\u30fc\u306f15\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u5148\u7aef\u309215q26.3\u306e\u5207\u65ad\u70b9\u3067\u5931\u3044\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c14q31.3\u304b\u3089\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b\u3002 \u5f7c\u5973\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u4e3b\u306a\u5f71\u97ff\u306f\u5f7c\u5973\u306e\u767a\u9054\u306b\u53ca\u3093\u3067\u304a\u308a\u3001\u5f7c\u5973\u306b\u306f\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u3082\u3042\u3063\u305f\u3002 16\u6b73\u306b\u306a\u308b\u307e\u3067\u306b\u30d9\u30c3\u30ad\u30fc\u306f\u82e5\u3044\u5a66\u4eba\u306b\u306a\u3063\u3066\u967d\u6c17\u306a\u6c17\u8cea\u3068\u5e78\u798f\u306a\u69d8\u5b50\u3092\u6301\u3063\u3066\u3044\u305f\u304c\u767a\u9054\u4e0a\u306e\u554f\u984c\u306f\u975e\u5e38\u306b\u5927\u304d\u3044\u3002<br>\u30d9\u30c3\u30ad\u30fc\u306f1\u304b\u6708\u65e9\u304f\u751f\u307e\u308c\u3001\u4f53\u91cd\u306f2.69kg(5\u30dd\u30f3\u30c915\u30aa\u30f3\u30b9)\u3067\u3001\u547c\u5438\u306f\u3057\u3066\u3044\u308b\u304c\u51fa\u751f\u6642\u306b\u6ce3\u304b\u306a\u304b\u3063\u305f\u3002 \u6cc9\u9580(\u8edf\u6591)\u306f\u975e\u5e38\u306b\u5927\u304d\u304f\u3001\u533b\u5e2b\u306e\u95a2\u5fc3\u3092\u96c6\u3081\u3066\u3044\u305f\u3002 \u5f7c\u5973\u306f\u5fc3\u81d3\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3001\u6700\u7d42\u7684\u306b\u81ea\u7136\u306b\u56de\u5fa9\u3057\u305f\u304c\u3001\u305d\u308c\u4ee5\u5916\u306f\u5065\u5eb7\u3067\u3042\u3063\u305f\u3002<br>\u30d9\u30c3\u30ad\u30fc\u306f\u305d\u306e\u5f8c\u30013~11\u6b73\u306e\u767a\u4f5c\u3001\u5e7c\u5150\u671f\u306e\u8033\u306e\u983b\u7e41\u306a\u611f\u67d3\u306a\u3069\u306e\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u3092\u8d77\u3053\u3057\u305f\u304c\u300116\u6b73\u307e\u3067\u306b\u306f\u5168\u822c\u7684\u306b\u5065\u5eb7\u3067\u3001\u601d\u6625\u671f\u306f\u6b63\u5e38\u306b\u9032\u884c\u3057\u305f\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u8d64\u3093\u574a\u3084\u5b50\u3069\u3082\u306e\u9803\u304b\u3089\u3001\u98df\u4e8b\u306f\u7d76\u3048\u9593\u306a\u3044\u8ab2\u984c\u3067\u3057\u305f\u304c\u3001\u5f7c\u5973\u306f\u7740\u5b9f\u306b\u524d\u9032\u3057\u307e\u3057\u305f\u3002 \u6bcd\u4e73\u3067\u80b2\u3066\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u304b\u3063\u305f\u305f\u3081\u3001\u7d4c\u9f3b\u80c3\u7ba1\u30674\u304b\u6708\u9593\u6804\u990a\u3057\u305f\u5f8c\u3001\u4eba\u5de5\u6804\u990a\u3092\u884c\u3063\u305f\u3002 2\u6b73\u306b\u306a\u308b\u307e\u3067\u306b\u3001\u5f7c\u5973\u306f\u98df\u3079\u7269\u3092\u304b\u304d\u6df7\u305c\u305f\u308a\u98f2\u3093\u3060\u308a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u30b1\u30fc\u30ad\u306e\u5c0f\u7247\u30923\u500b\u53d6\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002\u305d\u3057\u3066\u3001\u5f7c\u5973\u306e\u53e3\u306b\u306f\u7a4d\u307f\u8fbc\u3093\u3060\u30b9\u30d7\u30fc\u30f3\u3092\u53d6\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002 5\u6642\u307e\u3067\u306b\u5f7c\u5973\u306f\u30b9\u30d7\u30fc\u30f3\u3067\u98df\u3079\u3001\u30d5\u30a3\u30fc\u30c0\u30fc\u30ab\u30c3\u30d7\u304b\u3089\u98f2\u3080\u3053\u3068\u304c\u3067\u304d\u305f\u3002 10\u6642\u307e\u3067\u306b\u3001\u98df\u3079\u7269\u3092\u304b\u307e\u308c\u305f\u5927\u304d\u3055\u306e\u65ad\u7247\u306b\u5207\u3063\u305f\u3089\u3001\u81ea\u5206\u3067\u98df\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002 \u30c6\u30a3\u30fc\u30f3\u30a8\u30a4\u30b8\u30e3\u30fc\u3068\u3057\u3066\u3001\u98df\u6b32\u306f\u826f\u597d\u3067\u3042\u3063\u305f\u304c\u3001\u6642\u306b\u306f\u53e3\u3092\u3044\u3063\u3071\u3044\u306b\u3057\u3001\u7a92\u606f\u3059\u308b\u3053\u3068\u3082\u3042\u3063\u305f\u304c\u3001\u6210\u9577\u3057\u3001\u4f53\u91cd\u3092\u9069\u5ea6\u306b\u5897\u3084\u3057\u3066\u3044\u305f\u3002 \u3057\u304b\u3057\u3001\u30d9\u30c3\u30ad\u30fc\u306f16\u6b73\u3067\u8eab\u9577144cm(4&#8217;9)\u3068\u5c0f\u3055\u304b\u3063\u305f\u3002 \u30d9\u30c3\u30ad\u30fc\u306e\u53ef\u52d5\u6027\u306f\u304b\u306a\u308a\u9045\u308c\u3066\u304a\u308a\u3001\u5e7c\u5150\u671f\u306b\u306f\u591a\u304f\u306e\u95a2\u7bc0\u304c\u5f1b\u7de9\u3057\u3066\u304a\u308a\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u3001\u57fa\u790e\u306b\u3042\u308b\u7b4b\u7dca\u5f35\u304c\u4f4e\u3044\u305f\u3081\u306b\u4e0d\u5b89\u5b9a\u3067\u3042\u308b\u4e00\u65b9\u3067\u3001\u904e\u5ea6\u306e\u7dca\u5f35\u304a\u3088\u3073\u7b4b\u62d8\u7e2e\u304c\u7d4c\u6642\u7684\u306b\u5897\u5927\u3059\u308b\u554f\u984c\u3068\u306a\u3063\u305f\u3002<br>\u5f7c\u5973\u306f2\u6b73\u307e\u3067\u306b\u80c3\u306e\u4e0a\u3092\u6b69\u304d\u30015\u6b73\u307e\u3067\u306b\u6b69\u3044\u3066\u3044\u305f\u304c\u3001\u305d\u306e\u5f8c\u6570\u5e74\u306b\u308f\u305f\u3063\u3066\u30d0\u30e9\u30f3\u30b9\u304c\u5f90\u3005\u306b\u6539\u5584\u3057\u305f\u3002 \u5f7c\u5973\u306f\u95a2\u7bc0\u62d8\u7e2e\u306b\u5bfe\u6297\u3059\u308b\u305f\u3081\u306b\u5b9a\u671f\u7684\u306a\u7406\u5b66\u7642\u6cd5\u3001\u53d7\u52d5\u7684\u30b9\u30c8\u30ec\u30c3\u30c1\u3001\u526f\u5b50\u56fa\u5b9a\u3001\u30b2\u30fc\u30bf\u30fc\u3092\u5fc5\u8981\u3068\u3057\u305f\u304c\u300110\u5e74\u5f8c\u307e\u3067\u306b\u306f\u81ea\u4fe1\u306b\u6e80\u3061\u305f\u6cf3\u304e\u624b\u3067\u3042\u308a\u300110\u5e74\u5f8c\u307e\u3067\u306b\u306f\u4e0d\u5b89\u5b9a\u306a\u72b6\u614b\u3067\u8d70\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002<br>\u30d9\u30c3\u30ad\u30fc\u306e\u512a\u308c\u305f\u904b\u52d5\u6280\u80fd\u3082\u9045\u308c\u305f\u304c\u30015\u5e74\u5f8c\u306b\u306f\u7269\u4f53\u3092\u6307\u5dee\u3057\u3001\u64cd\u4f5c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u30018\u4eba\u3067\u76f4\u7dda\u3092\u5f15\u304f\u3053\u3068\u304c\u3067\u304d\u300110\u4eba\u3067\u30b3\u30fc\u30c8\u3092\u8131\u304e\u3001\u30da\u30b0\u306b\u540a\u308a\u4e0b\u3052\u3001\u5927\u67c4\u306e\u5203\u7269\u3092\u4f7f\u7528\u3057\u3088\u3046\u3068\u8a66\u307f\u305f\u3002<br>\u30d9\u30c3\u30ad\u30fc\u306f\u793e\u4ea4\u7684\u3067\u4eba\u6c17\u304c\u3042\u308a\u3001\u4f1a\u8a71\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u76f4\u63a5\u306e\u4f53\u9a13\u3084\u3001\u3042\u308b\u7a0b\u5ea6\u306e\u7f72\u540d\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3001\u30c0\u30a4\u30ca\u30de\u30a4\u30c8\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u30fb\u30a8\u30a4\u30c9\u3092\u901a\u3057\u3066\u3001\u3046\u307e\u304f\u4f1d\u3048\u3089\u308c\u3066\u3044\u308b\u3002 \u5f7c\u5973\u306e\u7406\u89e3\u529b\u306f\u81ea\u5206\u3092\u8868\u73fe\u3059\u308b\u80fd\u529b\u3088\u308a\u3082\u5927\u304d\u3044\u3002 \u30d9\u30c3\u30ad\u30fc\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u30ec\u30d9\u30eb\u306f\u5f7c\u5973\u306e\u5b66\u7fd2\u80fd\u529b\u3092\u53cd\u6620\u3057\u3066\u3044\u308b\u3002 \u5f7c\u5973\u306e\u96c6\u4e2d\u529b\u306e\u554f\u984c\u306f\u5c0f\u5b66\u6821\u6642\u4ee3\u306b\u306f\u6539\u5584\u3055\u308c\u305f\u304c\u3001\u4f9d\u7136\u3068\u3057\u3066\u9855\u8457\u3067\u3042\u3063\u305f\u3002 \u30c6\u30a3\u30fc\u30f3\u30a8\u30a4\u30b8\u30e3\u30fc\u3068\u3057\u3066\u3001\u5f7c\u5973\u306f\u57fa\u672c\u7684\u306a\u30ad\u30fc\u30dc\u30fc\u30c9\u3092\u4f7f\u3046\u3053\u3068\u304c\u3067\u304d\u305f\u3002 \u30d9\u30c3\u30ad\u30fc\u306f\u884c\u52d5\u7642\u6cd5\u58eb\u3068\u5354\u529b\u3057\u3066\u3001\u5f7c\u5973\u306e\u6311\u6226\u7684\u306a\u884c\u52d5\u306b\u53d6\u308a\u7d44\u307f\u3001\u8eab\u8fd1\u306a\u4eba\u3005\u3084\u4e00\u8cab\u3057\u305f\u5883\u754c\u7dda\u306b\u3046\u307e\u304f\u5bfe\u5fdc\u3057\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u5973\u306f\u3001\u6700\u3082\u7d20\u6674\u3089\u3057\u3044\u7b11\u9854\u3068\u89aa\u3057\u307f\u3084\u3059\u304f\u3001\u793e\u4ea4\u7684\u306a\u6027\u683c\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u3068\u3066\u3082\u75b2\u308c\u3066\u306f\u3044\u308b\u3082\u306e\u306e\u3001\u3042\u3061\u3053\u3061\u306b\u3044\u308b\u3053\u3068\u3092\u697d\u3057\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n<\/blockquote>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%87%E3%83%BC%E3%83%93%E3%82%B9\"><\/span>\u30c7\u30fc\u30d3\u30b9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"373\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-k.jpg\" alt=\"\" class=\"wp-image-18317\"\/><figcaption class=\"wp-element-caption\">11\u6b73<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u30c7\u30fc\u30d3\u30b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">18\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u304b\u3089\u306e\u6b20\u5931<\/a>\u304c\u3042\u308a\u300118q23\u306b\u5207\u65ad\u70b9\u304c\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u304c14q31.3\u306b\u5207\u65ad\u70b9\u3092\u3082\u3063\u3066\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b\u3002 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1\u9031\u9593\u5f8c\u3001\u30c7\u30fc\u30d3\u30b9\u306f\u982d\u90e8\u3068\u8133\u306eMRI\u3068CT\u30b9\u30ad\u30e3\u30f3\u3092\u53d7\u3051\u3001\u8133\u306e2\u3064\u306e\u534a\u7403\u3092\u3064\u306a\u3050\u795e\u7d4c\u7dda\u7dad\u306e\u675f\u3067\u3042\u308b\u8133\u6881\u306e\u5b8c\u5168\u306a\u7121\u5f62\u6210\u3092\u793a\u3057\u305f\u3002 \u30c7\u30fc\u30d3\u30b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u5150\u3067\u306f\u51fa\u751f\u6642\u4f53\u91cd\u306f\u826f\u597d\u3067\u3042\u3063\u305f\u304c\u3001\u6210\u9577\u66f2\u7dda\u3092\u4e0b\u65b9\u306b\u6ed1\u308a\u843d\u3061\u3001\u73fe\u5728\u306f12\u6b73\u3067\u306f\u306a\u304f4\u6b73\u306e\u5927\u304d\u3055\u3067\u3042\u308b\u3002 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class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"540\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-l.jpg\" alt=\"\" class=\"wp-image-18319\"\/><figcaption class=\"wp-element-caption\">13\u6b73<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u30d6\u30fc\u306b\u306f\u3001\u7b2c9\u67d3\u8272\u4f53\u306e\u77ed\u8155\u3001\u9577\u8155\u306e\u5c0f\u7247\u300114q32.1\u304b\u3089\u306a\u308b\u7b2c14\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304b\u3089\u306a\u308b\u5225\u306e\u67d3\u8272\u4f53\u304c\u3042\u308b\u3002 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13\u6642\u307e\u3067\u306b\u306f\u3001\u5f7c\u306f\u5203\u7269\u3092\u6271\u3044\u3001\u925b\u7b46\u3092\u6301\u3063\u3066\u3044\u305f\u304c\u3001\u6700\u521d\u306e\u540d\u524d\u3068\u30a2\u30eb\u30d5\u30a1\u30d9\u30c3\u30c8\u306e\u6587\u5b57\u3092\u66f8\u304f\u3053\u3068\u306f\u3067\u304d\u305f\u304c\u3001\u5341\u5206\u306a\u5727\u529b\u3092\u304b\u3051\u308b\u3053\u3068\u306f\u3067\u304d\u306a\u304b\u3063\u305f\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u5b66\u6821\u3067\u306f\u5f7c\u306f\u30ad\u30fc\u30dc\u30fc\u30c9\u3092\u4e38\u3054\u3068\u4f7f\u3063\u3066\u697d\u3057\u3093\u3060\u3002 \u5f7c\u306f\u8a18\u61b6\u304c\u3088\u304f\u3001\u7279\u306b\u65b9\u5411\u6027\u3084\u30e9\u30c3\u30d7\u97f3\u697d\u306e\u8a18\u61b6\u304c\u3088\u304f\u3001\u4e21\u624b\u3067\u30c9\u30e9\u30e0\u3092\u697d\u3057\u3093\u3067\u3044\u307e\u3059\u3002 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">22q13.31\u304b\u308922\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u3092\u5931\u3044(Phelan-McDermid\u75c7\u5019\u7fa4)<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14\u756a\u67d3\u8272\u4f53\u672b\u7aef\u304c14q32.1\u304b\u3089\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b\u3002 \u4e3b\u306a\u554f\u984c\u306f\u3001\u98df\u4e8b\u3001\u7761\u7720\u3001\u4e0d\u5b89\u3001\u30c8\u30a4\u30ec\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3067\u3042\u308b\u3002<br>\u4e00\u822c\u7684\u306a\u5c0f\u5150\u671f\u306e\u75be\u60a3\u3092\u9664\u3044\u3066\u3001\u5f7c\u5973\u306f7\u6b73\u307e\u3067\u5168\u822c\u7684\u306b\u5065\u5eb7\u3067\u3042\u308a\u3001\u80ba\u3001\u814e\u81d3\u3001\u8133\u306f\u5065\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u691c\u67fb\u3067\u793a\u3055\u308c\u3066\u3044\u308b\u3002 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7\u6b73\u306e\u3068\u304d\u3001\u5f7c\u5973\u306f\u307e\u3060\u5480\u56bc\u304c\u56f0\u96e3\u3067\u3042\u308b\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"232\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-m.jpg\" alt=\"\" class=\"wp-image-18321\"\/><figcaption class=\"wp-element-caption\">\u65b0\u751f\u5150<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"290\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-n.jpg\" alt=\"\" class=\"wp-image-18323\"\/><figcaption class=\"wp-element-caption\">4\u6b73<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<p>\u30a8\u30e1\u30eb\u306e\u7b4b\u7dca\u5f35\u306f\u4f4e\u304b\u3063\u305f\u304c\u3001\u7406\u5b66\u7642\u6cd5\u306e\u30a4\u30f3\u30d7\u30c3\u30c8\u3092\u53d7\u3051\u3001\u6b69\u884c\u8005\u306e\u52a9\u3051\u3092\u501f\u308a\u30663\u5e74\u6b69\u884c\u3057\u3001\u968e\u6bb5\u30925\u6bb5\u767b\u3063\u305f\u3002 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\u5b9a\u671f\u7684\u306b\u30ec\u30c3\u30b9\u30f3\u3092\u7e70\u308a\u8fd4\u3059\u9650\u308a\u3001\u5f7c\u5973\u306f\u826f\u3044\u8a18\u61b6\u3092\u6301\u3063\u3066\u3044\u308b\u3002 \u30a8\u30e1\u30eb\u306f\u3001\u30c8\u30a4\u30ec\u306e\u8a13\u7df4\u3092\u53d7\u3051\u3066\u304a\u308a\u3001\u8180\u80f1\u5c3f\u610f\u5207\u8feb\/\u983b\u5c3f\u306b\u60a9\u307e\u3055\u308c\u3066\u3044\u308b\u3002 \u5f7c\u5973\u306f\u3088\u304f\u7720\u308c\u305a\u4e0d\u5b89\u306b\u82e6\u3057\u3093\u3067\u3044\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%98%E3%82%A4%E3%83%AA%E3%83%BC\"><\/span>\u30d8\u30a4\u30ea\u30fc<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d8\u30a4\u30ea\u30fc\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">5p15.31\u304b\u30895\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306e\u672b\u7aef\u3092\u5931\u3044<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q32.11\u304b\u308914\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b\u3002 \u5f7c\u5973\u306f\u30a8\u30b9\u30e1(13-4\u30da\u30fc\u30b8\u53c2\u7167)\u3068\u540c\u3058\u6838\u578b\u3092\u3082\u3064\u304c\u3001\u5f71\u97ff\u306f\u7570\u306a\u308b\u3002 \u6b20\u59315p\u306f\u5178\u578b\u7684\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Cri du Chat\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u907a\u4f1d\u7684\u75c7\u5019\u7fa4<\/a>(\u3053\u306e\u75c5\u6c17\u306e\u8d64\u3093\u574a\u306e\u732b\u306e\u3088\u3046\u306a\u6ce3\u304d\u58f0\u306e\u5f8c\u3067\u547d\u540d\u3055\u308c\u308b)\u3092\u5f15\u304d\u8d77\u3053\u3059\u304c\u3001\u67d3\u8272\u4f535p\u306e\u5148\u7aef\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u3068\u3053\u308d\u3067\u306f\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u5178\u578b\u7684\u306a\u7279\u5fb4\u3092\u5f15\u304d\u8d77\u3053\u3055\u306a\u3044\u3053\u3068\u304c\u3042\u308b\u3002\u30d8\u30a4\u30ea\u30fc\u306f\u3001\u4e0b\u773c\u77bc\u304c\u767a\u9054\u3057\u3066\u3044\u306a\u3044\u305f\u3081\u306b\u773c\u3092\u9589\u3058\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">a14q\u91cd\u8907\u75c7<\/a>\u306e\u4ed6\u306e\u5c0f\u5150\u306b\u307f\u3089\u308c\u308b\u7570\u5e38\u306a\u75c5\u614b\u3092\u5448\u3059\u308b\u3002 \u5f7c\u5973\u306f\u76ae\u819a\u79fb\u690d\u3092\u7e70\u308a\u8fd4\u3057\u30014\u56de\u306e\u624b\u8853\u3092\u53d7\u3051\u305f\u5f8c\u3001\u773c\u306e\u9589\u585e\u306f\u6539\u5584\u3057\u305f\u3082\u306e\u306e\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u304f\u3001\u4e7e\u71e5\u3057\u3059\u304e\u308b\u306e\u3092\u9632\u3050\u305f\u3081\u306b\u4eba\u5de5\u6d99\u6db2\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>9\u6b73\u307e\u3067\u306b\u3001\u30d8\u30a4\u30ea\u30fc\u306e\u5065\u5eb7\u72b6\u614b\u306f\u6982\u3057\u3066\u975e\u5e38\u306b\u826f\u597d\u3067\u3042\u3063\u305f\u304c\u3001\u3055\u307e\u3056\u307e\u306a\u72b6\u614b\u306b\u5bfe\u51e6\u3059\u308b\u305f\u3081\u306b\u5165\u9662\u3092\u6570\u591a\u304f\u53d7\u3051\u305f\u3002\u5341\u4e8c\u6307\u8178\u30a6\u30a8\u30d6(\u8178\u7ba1\u306e\u819c\u304c\u9589\u585e\u3092\u5f15\u304d\u8d77\u3053\u3059)\u3001\u7570\u6240\u6027\u809b\u9580(\u809b\u9580\u304c\u6b63\u5e38\u306a\u4f4d\u7f6e\u306e\u524d\u306b\u3042\u308b)\u3001\u53e3\u84cb\u88c2\u306a\u3069\u306e\u624b\u8853\u3001\u98df\u7269\u901a\u8def\u3068\u80c3\u306e\u9593\u306e\u5f01\u306e\u4f5c\u7528\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306e\u30cb\u30c3\u30bb\u30f3\u773c\u5e95\u6458\u51fa\u8853\u3001\u80c3\u3078\u306e\u76f4\u63a5\u6804\u990a\u3092\u53ef\u80fd\u306b\u3059\u308b\u305f\u3081\u306e\u80c3\u7ba1\u3068\u30dc\u30bf\u30f3\u306e\u633f\u5165\u3001\u6241\u6843\u306e\u9664\u53bb\u3001\u304a\u3088\u3073\u591a\u304f\u306e\u80f8\u90e8\u611f\u67d3\u75c7\u306a\u3069\u3067\u3042\u308b\u3002 \u60a3\u8005\u306f\u4fbf\u79d8\u3068\u5598\u606f\u304c\u7d9a\u3044\u3066\u3044\u305f\u304c\u3001\u3053\u308c\u3089\u306f\u6295\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3055\u308c\u305f\u3002<br>\u30d8\u30a4\u30ea\u30fc\u306f\u8db3\u304c\u975e\u5e38\u306b\u5c0f\u3055\u304f\u30019\u6642\u3001\u8db3\u306f7~8\u6b73\u306e\u8d64\u3093\u574a\u3060\u3063\u305f\u3002 \u767a\u9054\u9762\u3067\u306f\u3001\u5f7c\u5973\u306f\u8db3\u3092\u52d5\u304b\u3057\u3066\u7acb\u3063\u305f\u308a\u3001\u652f\u3048\u3092\u6301\u3063\u3066\u6b69\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002 \u624b\u306e\u5c48\u66f2\u3057\u305f3\u672c\u306e\u6307\u3092\u8d64\u3093\u574a\u306e\u3088\u3046\u306b\u526f\u6728\u3067\u56fa\u5b9a\u3057\u3001\u7269\u3092\u6301\u3061\u3084\u3059\u304f\u3057\u305f\u3002 \u5f7c\u5973\u306f\u8eab\u632f\u308a\u3084\u97f3\u58f0\u3067\u8a71\u3057\u5408\u3044\u3001\u8a00\u3048\u308b\u4ee5\u4e0a\u306b\u7406\u89e3\u3057\u3066\u3044\u308b\u3002 \u5b66\u6821\u3067\u306f\u3001\u5f7c\u5973\u306f\u6c7a\u307e\u3063\u305f\u5b66\u7fd2\u8005\u3067\u3042\u308a\u3001SEN\u30b9\u30c6\u30fc\u30c8\u30e1\u30f3\u30c8\u3067\u30b5\u30dd\u30fc\u30c8\u3055\u308c\u3066\u3044\u307e\u3059\u3002 \u5f7c\u5973\u306f\u304a\u304a\u3080\u306d\u5e78\u305b\u3067\u3001\u89aa\u3057\u307f\u3084\u3059\u304f\u3001\u7279\u306b\u4e71\u66b4\u3067\u8ee2\u5012\u3057\u305f\u30b2\u30fc\u30e0\u3092\u697d\u3057\u3093\u3067\u3044\u308b\u3002\u8352\u308c\u3066\u3044\u308b\u307b\u3069\u826f\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"233\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-o.jpg\" alt=\"\" class=\"wp-image-18325\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"273\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-p.jpg\" alt=\"\" class=\"wp-image-18327\"\/><figcaption class=\"wp-element-caption\">7\u6b73<\/figcaption><\/figure><\/div>\n\n\n<p><\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u5973\u304c\u3044\u306a\u3051\u308c\u3070\u3001\u79c1\u306f\u81ea\u5206\u3092\u898b\u5931\u3063\u3066\u3057\u307e\u3046\u3067\u3057\u3087\u3046\u3002\u5f7c\u5973\u306e\u304a\u304b\u3052\u3067\u3001\u6bce\u65e5\u7b11\u3044\u304c\u7d76\u3048\u307e\u305b\u3093\u3002\u4ed6\u306b\u4f55\u304c\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/p>\n<\/blockquote>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A8%E3%82%B9%E3%83%A1\"><\/span>\u30a8\u30b9\u30e1<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a8\u30b9\u30e1\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">5\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306e\u672b\u7aef\u304c5p15.31\u304b\u3089\u5931\u308f\u308c<\/a>\u3066\u304a\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c14q32.11\u304b\u3089\u91cd\u8907<\/a>\u3057\u3066\u3044\u307e\u3059\u3002\u5f7c\u5973\u306fHayleigh\uff08\u4e0a\uff09\u3068\u540c\u3058\u6838\u578b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u5f71\u97ff\u306e\u53d7\u3051\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u3002Esme\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Cri du Chat\u75c7\u5019\u7fa4<\/a>\u306e\u5178\u578b\u7684\u306a\u732b\u306e\u3088\u3046\u306a\u9cf4\u304d\u58f0\u3084\u60b2\u3057\u3052\u306a\u58f0\u306b\u95a2\u9023\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">5p13.31\u306e\u9818\u57df\u3092\u5931\u3063\u3066<\/a>\u3044\u307e\u3059\u3002\u5065\u5eb7\u4e0a\u306e\u5927\u304d\u306a\u554f\u984c\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6442\u98df\u969c\u5bb3\u3001\u80ba\u708e\u3001\u5c3f\u8def\u611f\u67d3\u3068\u9006\u6d41\u3001\u6c17\u7ba1\u652f\u708e\u3001\u80c3\u8178\u708e\u306a\u3069\u3067\u5165\u9662\u3057\u305f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u751f\u5f8c2\u9031\u9593\u3067\u4e00\u5ea6\u3060\u3051\u767a\u4f5c\u3092\u8d77\u3053\u3057\u307e\u3057\u305f\u304c\u3001\u3053\u308c\u306f\u304a\u305d\u3089\u304f\u71b1\u6027\u75d9\u6523\u3060\u3063\u305f\u3068\u601d\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b50\u5bae\u5185\u3067\u6210\u9577\u304c\u6b62\u307e\u3063\u3066\u3057\u307e\u3063\u305f\u30a8\u30b9\u30df\u30fc\u306f\u300138\u9031\u76ee\u306b\u8a98\u767a\u3055\u308c\u3001\u51fa\u751f\u6642\u306f\u3068\u3066\u3082\u5c0f\u3055\u304b\u3063\u305f\u3002\u65b0\u751f\u5150\u306e\u9803\u3001\u5fc3\u914d\u3060\u3063\u305f\u306e\u306f\u3001\u3064\u304b\u307e\u308a\u7acb\u3061\u304c\u3067\u304d\u306a\u3044\u3053\u3068\u3068\u3001\u7b4b\u529b\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u3053\u3068\u3067\u3057\u305f\u3002\u9ad8\u30ab\u30ed\u30ea\u30fc\u306e\u30df\u30eb\u30af\u3092\u4e0e\u3048\u308b\u3053\u3068\u3067\u30017\u304b\u6708\u5f8c\u306b\u306f\u4f53\u91cd\u304c50\uff05\u53f0\u306b\u5897\u52a0\u3057\u307e\u3057\u305f\u304c\u3001\u4f53\u9577\u3068\u982d\u56f2\u306f3\uff05\u53f0\u306e\u30ab\u30fc\u30d6\u3092\u63cf\u3044\u3066\u3044\u307e\u3057\u305f\u3002Esme\u306f\u6388\u4e73\u5f8c\u306b\u9ec4\u660f\u308c\u305f\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u7d4c\u9a13\u3057\u3001\u6388\u4e73\u7269\u304c\u98df\u7269\u901a\u8def\u3092\u9006\u6d41\u3057\u3066\u80ba\u306b\u5438\u3044\u8fbc\u307e\u308c\u308b\u3001\u9006\u6d41\u3068\u8aa4\u56a5\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3057\u305f\u3002\u6fc3\u539a\u98fc\u6599\u3068\u3001\u98fc\u6599\u304c\u80c3\u306e\u4e2d\u306b\u7559\u307e\u308b\u3088\u3046\u306b\u3059\u308b\u85ac\u3067\u3001\u9006\u6d41\u306f\u6291\u3048\u3089\u308c\u307e\u3057\u305f\u3002\u6700\u8fd1\u3001\u5f7c\u5973\u306f\u4f4e\u8840\u7cd6\u767a\u4f5c\uff08\u8840\u7cd6\u5024\u304c\u4e0b\u304c\u308b\uff09\u3092\u8d77\u3053\u3059\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u3053\u306e\u3088\u3046\u306a\u75c7\u72b6\u306f\u3001\u8efd\u5ea6\u306e\u75c5\u6c17\u306e\u5f8c\u306b\u8d77\u3053\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u73fe\u5728\u8abf\u67fb\u4e2d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u304c\u975e\u5e38\u306b\u5c0f\u3055\u304f\u3001\u9854\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u307e\u3070\u3089\u306a\u7709\u6bdb\u3001\u9ad8\u3044\u984d\u3001\u5e83\u304f\u5e73\u3089\u306a\u9f3b\u6881\u3001\u5927\u304d\u306a\u984b\uff08\u3042\u3054\uff09\u3001\u9f3b\u3068\u4e0a\u5507\u306e\u9593\u306e\u975e\u5e38\u306b\u9855\u8457\u306a\u6e9d\u3001\u3084\u3084\u5c0f\u3055\u3044\u4e0b\u984e\u3001\u3084\u3084\u7a81\u51fa\u3057\u305f\u4e0a\u5507\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<br>14\u304b\u6708\u306e\u6642\u70b9\u3067\u306f\u3001\u5f7c\u5973\u304c\u3069\u306e\u3088\u3046\u306b\u6210\u9577\u3059\u308b\u304b\u3092\u5224\u65ad\u3059\u308b\u306b\u306f\u6642\u671f\u5c1a\u65e9\u3067\u3059\u304c\u3001\u5f7c\u5973\u306f\u975e\u5e38\u306b\u793e\u4ea4\u7684\u3067\u53cd\u5fdc\u304c\u826f\u304f\u3001\u4eba\u3092\u3088\u304f\u899a\u3048\u3066\u3044\u307e\u3059\u3002\u30a8\u30b9\u30e1\u306f\u81ea\u7acb\u3057\u3066\u5ea7\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u5bdd\u8fd4\u308a\u304c\u3067\u304d\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5bdd\u8fd4\u308a\u3092\u3057\u306a\u3044\u3053\u3068\u3092\u9078\u3093\u3067\u3044\u307e\u3059\u3002<br>\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u7406\u5b66\u7642\u6cd5\u3068\u4f5c\u696d\u7642\u6cd5\u3092\u53d7\u3051\u3066\u304a\u308a\u30018\u304b\u6708\u304b\u3089\u306f\u4f1d\u5c0e\u6027\u6559\u80b2\u3092\u53d7\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"200\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-q.jpg\" alt=\"\" class=\"wp-image-18329\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"150\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-r.jpg\" alt=\"\" class=\"wp-image-18331\"\/><figcaption class=\"wp-element-caption\">\u751f\u5f8c14\u304b\u6708<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u5973\u306f\u3068\u3066\u3082\u611b\u60c5\u6df1\u304f\u3001\u5e78\u305b\u305d\u3046\u3067\u3001\u305d\u308c\u304c\u4f1d\u67d3\u3059\u308b\u306e\u3067\u3059\u3002<\/p>\n<\/blockquote>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%AD%E3%83%BC%E3%83%A9\"><\/span>\u30ed\u30fc\u30e9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ed\u30fc\u30e9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">4p16.3\u304b\u30894\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u672b\u7aef\u3092\u5931\u3044<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q32.2\u304b\u308914\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u672b\u7aef\u30d0\u30f3\u30c94p16.3\u306e\u6b20\u640d<\/a>\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Wolf-Hirschhorn\u75c7\u5019\u7fa4<\/a>\u3092\u5f15\u304d\u8d77\u3053\u3059\u304c\u3001\u30ed\u30fc\u30e9\u306f\u3053\u306e\u3088\u304f\u77e5\u3089\u308c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u53e4\u5178\u7684\u306a\u7279\u5fb4\u3092\u3082\u305f\u306a\u3044\u3002 \u5f7c\u5973\u306f\u5e74\u9f62\u304c\u4f4e\u304f\u3001\u767a\u9054\u306e\u9045\u308c\u3082\u8efd\u5ea6\u3067\u3042\u308b\u304c\u30018\u6b73\u307e\u3067\u306b\u6b69\u3044\u3066\u81ea\u8ee2\u8eca\u306b\u4e57\u308b\u3053\u3068\u3092\u5b66\u3093\u3060\u3002\u5f7c\u5973\u306f\u6700\u521d\u306b\u8a00\u8449\u30922\u56de\u4f7f\u3044\u30018\u56de\u77ed\u3044\u6587\u7ae0\u3067\u8a71\u3057\u305f\u3002\u5f7c\u5973\u306f\u4e3b\u6d41\u306e\u5b66\u6821\u306b\u901a\u3044\u3001\u8aad\u307f\u66f8\u304d\u3092\u5b66\u3073\u3001\u304a\u305d\u3089\u304f3\u6b73\u306e\u5b50\u4f9b\u306b\u5178\u578b\u7684\u306a\u30ec\u30d9\u30eb\u306b\u9054\u3057\u305f\u3002\u5f7c\u5973\u306f\u4ed6\u306e\u5b50\u4f9b\u305f\u3061\u3068\u904a\u3073\u3001\u793e\u4f1a\u6027\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u611b\u3057\u3066\u3044\u305f\u3002\u5f7c\u5973\u306f\u5b8c\u5168\u306b\u5065\u5eb7\u3067\u3042\u3063\u305f\u3002 \u30ed\u30fc\u30e9\u306f\u3001\u308f\u305a\u304b\u306b\u7570\u5e38\u306a\u9854\u8c8c\u3068\u3001\u5de6\u5074\u306b\u30c7\u30e5\u30a2\u30f3\u75c7\u5019\u7fa4\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u773c\u7403\u904b\u52d5\u969c\u5bb3\u3092\u793a\u3057\u305f\u304c\u3001\u6cbb\u7642\u306e\u5fc5\u8981\u306f\u306a\u304b\u3063\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%BC%E3%83%AD%E3%83%B3\"><\/span>\u30a2\u30fc\u30ed\u30f3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"280\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-s.jpg\" alt=\"\" class=\"wp-image-18333\"\/><figcaption class=\"wp-element-caption\">6\u6b73<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u30a2\u30ed\u30f3\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">18p11.31\u304b\u308918\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306e\u672b\u7aef\u3092\u5931\u3044<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q32.3\u304b\u308914\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b\u3002 \u6b63\u5e38\u306a\u598a\u5a20\u5f8c\u306b\u751f\u307e\u308c\u305f\u304c\u3001\u51fa\u751f\u6642\u4f53\u91cd\u304c\u4e88\u60f3\u5916\u306b\u4f4e\u304f\u3001\u5c0f\u3055\u306a\u982d\u90e8\u3084\u505c\u7559\u7cbe\u5de3\u306a\u30691~2\u500b\u306e\u5947\u5f62\u304c\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u6642\u306e\u5438\u5f15\u30fb\u9178\u7d20\u5438\u5f15\u5f8c\u3001\u30a2\u30ed\u30f3\u306f\u5bfe\u51e6\u3057\u305f\u304c\u3001\u6442\u98df\u30fb\u56a5\u4e0b\u304c\u56f0\u96e3\u3067\u3042\u3063\u305f\u3002 \u30a2\u30ed\u30d5\u30a7\u30f3\u306f\u3001\u91cd\u5927\u306a\u5148\u5929\u7570\u5e38\u306f\u306a\u3044\u3053\u3068\u304c\u8a3c\u660e\u3055\u308c\u305f\u304c\u3001\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u306b\u3088\u308a\u983b\u7e41\u306b\u6b7b\u4ea1\u3057\u30016\u4eba\u306f\u80f8\u90e8\u611f\u67d3\u75c7\u3092\u7e70\u308a\u8fd4\u3057\u3066\u304a\u308a\u3001\u6297\u5598\u606f\u85ac\u3092\u670d\u7528\u3057\u3066\u3044\u305f\u3002 \u307e\u305f\u30012~3\u56de\u306e\u71b1\u6027\u75d9\u6523\u3092\u7d4c\u9a13\u3057\u3066\u3044\u308b\u304c\u3001\u3066\u3093\u304b\u3093\u3068\u306f\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u3002 \u30a2\u30ed\u30f3\u306f\u80c3\u306b\u3082\u554f\u984c\u304c\u3042\u308a\u3001\u91cd\u5ea6\u306e\u4fbf\u79d8\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a2\u30ed\u30f3\u306f\u3001\u307e\u3060\u5ea7\u3063\u305f\u308a\u6b69\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u306e\u3067\u3001\u79fb\u52d5\u3092\u7dad\u6301\u3059\u308b\u306e\u306b\u591a\u304f\u306e\u624b\u52a9\u3051\u3092\u5fc5\u8981\u3068\u3059\u308b\u304c\u3001\u5f7c\u306f\u5de6\u53f3\u306b\u8ee2\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002 6\u6642\u306b\u306f\u307e\u3060\u63e1\u308b\u3053\u3068\u3082\u63e1\u308b\u3053\u3068\u3082\u3067\u304d\u306a\u3044\u304c\u3001\u73a9\u5177\u3067\u6cf3\u304e\u3001\u982d\u304b\u3089\u30b9\u30a4\u30c3\u30c1\u88c5\u7f6e\u3092\u64cd\u4f5c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002 \u7b4b\u7dca\u5f35\u304c\u7570\u5e38\u306b\u9ad8\u304f\u3001\u7b4b\u5f1b\u7de9\u85ac\u306e\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3092\u670d\u7528\u3057\u3066\u3044\u308b\u3002 \u30a2\u30fc\u30ed\u30f3\u306f\u3001\u97f3\u58f0\u3084\u76ee\u3092\u5411\u3051\u308b\u3053\u3068\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u308a\u3001\u7279\u5225\u306a\u5b66\u6821\u3067\u306f\u3001\u826f\u597d\u306a\u8a18\u61b6\u529b\u3092\u5099\u3048\u305f\u3001\u6c7a\u307e\u3063\u305f\u5b66\u7fd2\u8005\u3067\u3042\u308b\u3053\u3068\u304c\u8a3c\u660e\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u306f\u3068\u3066\u3082\u5e78\u305b\u305d\u3046\u3067\u3001\u5bb6\u65cf\u3068\u4e00\u7dd2\u306b\u3044\u308b\u306e\u304c\u597d\u304d\u306a\u306e\u3067\u3001\u79c1\u305f\u3061\u306e\u751f\u6d3b\u306b\u5927\u304d\u304f\u8ca2\u732e\u3057\u3066\u304f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/blockquote>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E8%A4%87%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E3%81%97%E3%81%A6%E7%94%9F%E3%81%98%E3%81%9F%E3%81%AE%E3%81%A0%E3%82%8D%E3%81%86%E3%81%8B%E3%80%82\"><\/span>\u91cd\u8907\u306f\u3069\u306e\u3088\u3046\u306b\u3057\u3066\u751f\u3058\u305f\u306e\u3060\u308d\u3046\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:60%\">\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u306f\u3001\u7247\u65b9\u306e\u89aa\u306e\u67d3\u8272\u4f53\u306e\u518d\u7de8\u6210\u306e\u7d50\u679c\u3067\u3042\u308b\u3002 \u3053\u308c\u306f\u901a\u5e38\u3001\u30d0\u30e9\u30f3\u30b9\u306e\u3068\u308c\u305f\u8ee2\u5ea7\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u9593\u3067\u7269\u8cea\u304c\u4ea4\u63db\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u7269\u8cea\u304c\u5931\u308f\u308c\u305f\u308a\u7372\u5f97\u3055\u308c\u305f\u308a\u3057\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u89aa\u306f\u901a\u5e38\u3001\u5065\u5eb7\u3084\u767a\u9054\u306b\u554f\u984c\u304c\u306a\u3044\u3002 \u3068\u304d\u306b\u3001\u7247\u65b9\u306e\u89aa\u304c\u5b50\u4f9b\u3068\u540c\u3058\u91cd\u8907\u3092\u3082\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e21\u89aa\u3068\u3082\u6b63\u5e38\u306a\u67d3\u8272\u4f53\u3092\u3082\u3064\u5834\u5408\u306b\u306f\u3001\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u304c\u8d77\u3053\u308b\u3002 \u907a\u4f1d\u5b66\u8005\u304c\u3053\u308c\u306b\u7528\u3044\u308b\u7528\u8a9e\u306fde novo(dn)\u3067\u3042\u308b\u3002<br>\u65b0\u305f\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u306f\u3001\u4e21\u89aa\u306e\u7cbe\u5b50\u307e\u305f\u306f\u5375\u7d30\u80de\u304c\u5f62\u6210\u3055\u308c\u305f\u3068\u304d\u306b\u901a\u5e38\u8d77\u3053\u308b\u5909\u5316\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002 \u5375\u5b50\u3068\u7cbe\u5b50\u7d30\u80de\u304c\u5f62\u6210\u3055\u308c\u308b\u3068\u3001\u67d3\u8272\u4f53\u306f\u5207\u65ad\u3055\u308c\u3001\u518d\u7d50\u5408\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u304c\u3001\u3053\u308c\u304c\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u306f\u6642\u306b\u9650\u3089\u308c\u308b\u3002<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:40%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"600\" height=\"600\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-t-edited.png\" alt=\"\" class=\"wp-image-18344\"\/><figcaption class=\"wp-element-caption\">\u5e73\u8861\u8ee2\u5ea7<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<p>\u5207\u65ad\u3068\u518d\u7d50\u5408\u306f\u81ea\u7136\u306a\u30d7\u30ed\u30bb\u30b9\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u89aa\u3068\u3057\u3066\u305d\u308c\u3092\u5909\u66f4\u307e\u305f\u306f\u5236\u5fa1\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002 \u4e16\u754c\u306e\u3042\u3089\u3086\u308b\u5730\u57df\u306e\u5b50\u3069\u3082\u3084\u3042\u3089\u3086\u308b\u30bf\u30a4\u30d7\u306e\u30d0\u30c3\u30af\u30b0\u30e9\u30a6\u30f3\u30c9\u306e\u5b50\u3069\u3082\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u3092\u3082\u3063\u3066\u3044\u308b\u3002 \u74b0\u5883\u56e0\u5b50\u3001\u98df\u4e8b\u56e0\u5b50\u3001\u751f\u6d3b\u69d8\u5f0f\u56e0\u5b50\u306f\u3053\u308c\u3089\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u306a\u3044\u3002 \u4e21\u89aa\u304c\u598a\u5a20\u524d\u307e\u305f\u306f\u598a\u5a20\u4e2d\u306b\u91cd\u8907\u3092\u5f15\u304d\u8d77\u3053\u3057\u305f\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3082\u306e\u306f\u306a\u304f\u3001\u305d\u308c\u3092\u9632\u3050\u305f\u3081\u306b\u4f55\u3082\u3067\u304d\u306a\u304b\u3063\u305f\u3002<\/p>\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\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%86%8D%E3%81%B3%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B\"><\/span>\u518d\u3073\u8d77\u3053\u308a\u307e\u3059\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u3092\u4f34\u3046\u5225\u306e\u598a\u5a20\u306e\u53ef\u80fd\u6027\u306f\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u4f9d\u5b58\u3059\u308b\u3002 \u4e21\u89aa\u304c\u6b63\u5e38\u306a\u67d3\u8272\u4f53\u3092\u3082\u3064\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">14q\u306e\u91cd\u8907<\/a>\u306f\u518d\u3073\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u975e\u5e38\u306b\u4f4e\u3044\u3002<br>\u8840\u6db2\u691c\u67fb\u3067\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c14q\u3092\u542b\u3080\u67d3\u8272\u4f53\u5909\u5316\u3092\u793a\u3057\u305f\u5834\u5408\u306f\u3001\u67d3\u8272\u4f53\u5909\u5316\u3092\u4f34\u3046\u4ed6\u306e\u598a\u5a20\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002 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class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%94%AF%E6%8F%B4%E3%81%A8%E6%83%85%E5%A0%B1\"><\/span>\u652f\u63f4\u3068\u60c5\u5831<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>\u307e\u308c\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u30b5\u30dd\u30fc\u30c8\u30b0\u30eb\u30fc\u30d7\u3001<br>G1, The Stables, Station Road West, Oxted, Surrey RH8 9EE, United Kingdom<br>\u96fb\u8a71\/FAX:+44(0)1883 723356<br>info@rarechromo.org I www.rarechromo.org<\/p>\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<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%AE%E3%83%AA%E3%83%B3%E3%82%AF%E3%80%81%E6%83%85%E5%A0%B1%E3%80%81%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%AE%E3%81%9F%E3%82%81%E3%81%ABUnique%E3%81%AB%E5%8F%82%E5%8A%A0%E3%81%97%E3%81%A6%E3%81%8F%E3%81%A0%E3%81%95%E3%81%84%E3%80%82\"><\/span>\u5bb6\u65cf\u306e\u30ea\u30f3\u30af\u3001\u60c5\u5831\u3001\u30b5\u30dd\u30fc\u30c8\u306e\u305f\u3081\u306bUnique\u306b\u53c2\u52a0\u3057\u3066\u304f\u3060\u3055\u3044\u3002<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u30e6\u30cb\u30fc\u30af\u306f\u3001\u653f\u5e9c\u306e\u8cc7\u91d1\u63f4\u52a9\u3092\u53d7\u3051\u305a\u3001\u5bc4\u4ed8\u91d1\u3068\u52a9\u6210\u91d1\u306e\u307f\u3067\u904b\u55b6\u3055\u308c\u3066\u3044\u308b\u6148\u5584\u56e3\u4f53\u3067\u3059\u3002<br>\u3084\u52a9\u6210\u91d1\u3067\u6210\u308a\u7acb\u3063\u3066\u3044\u307e\u3059\u3002\u3082\u3057\u53ef\u80fd\u3067\u3042\u308c\u3070\u3001\u79c1\u305f\u3061\u306e\u30a6\u30a7\u30d6\u30b5\u30a4\u30c8\u304b\u3089\u3054\u5bc4\u4ed8\u3092\u304a\u9858\u3044\u3057\u307e\u3059\u3002www.rarechromo.org 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[74,43,49],"class_list":["post-18365","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-duplication-syndrome","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18365","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"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=18365"}],"version-history":[{"count":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18365\/revisions"}],"predecessor-version":[{"id":109687,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18365\/revisions\/109687"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=18365"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=18365"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=18365"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}