{"id":121801,"date":"2026-01-07T17:23:28","date_gmt":"2026-01-07T08:23:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121801"},"modified":"2026-01-07T17:23:30","modified_gmt":"2026-01-07T08:23:30","slug":"chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/","title":{"rendered":"11p11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c11\u756a\u67d3\u8272\u4f53p11.2\u6b20\u5931\uff08Chromosome 11p11.2 deletion\uff09\u300d\u3001\u3042\u308b\u3044\u306f\u300c\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3068\u6238\u60d1\u3044\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u300c\u9aa8\u306b\u30b3\u30d6\u304c\u3067\u304d\u308b\uff1f\u300d\u300c\u982d\u306e\u9aa8\u306b\u7a74\u304c\u3042\u308b\uff1f\u300d<\/p>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089\u8aac\u660e\u3055\u308c\u308b\u75c7\u72b6\u306f\u3001\u4e00\u822c\u7684\u306b\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u67d3\u8272\u4f53\u75be\u60a3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u306a\u3069\uff09\u3068\u306f\u5c11\u3057\u7570\u306a\u308b\u7279\u5fb4\u7684\u306a\u3082\u306e\u304c\u591a\u304f\u3001\u30a4\u30e1\u30fc\u30b8\u304c\u6e67\u304d\u306b\u304f\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u96a3\u308a\u5408\u3063\u3066\u3044\u308b\u3044\u304f\u3064\u304b\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u304d\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u306e\u7814\u7a76\u304c\u9032\u307f\u3001\u300c\u3069\u306e\u907a\u4f1d\u5b50\u304c\u8db3\u308a\u306a\u3044\u3068\u3001\u3069\u306e\u75c7\u72b6\u304c\u51fa\u308b\u304b\u300d\u304c\u304b\u306a\u308a\u8a73\u3057\u304f\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u300c\u4f55\u306b\u6c17\u3092\u3064\u3051\u3066\u3001\u3069\u3046\u7ba1\u7406\u3059\u308c\u3070\u3088\u3044\u304b\u300d**\u3068\u3044\u3046\u5bfe\u7b56\u304c\u7acb\u3066\u3084\u3059\u3044\u75c5\u6c17\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E6%95%B0%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E6%8A%9C%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\" >\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u6570\u30da\u30fc\u30b8\u304c\u629c\u3051\u3066\u3044\u308b\u72b6\u614b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u4e3b\u306a\u75c7\u72b6\u3068\u539f\u56e0\u907a\u4f1d\u5b50<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#1_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%EF%BC%88%E3%81%9F%E3%81%AF%E3%81%A4%E3%81%9B%E3%81%84%E3%83%BB%E3%81%8C%E3%81%84%E3%81%93%E3%81%A4%E3%81%97%E3%82%85%EF%BC%89\" >1. \u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u305f\u306f\u3064\u305b\u3044\u30fb\u304c\u3044\u3053\u3064\u3057\u3085\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#2_%E9%A0%AD%E9%A0%82%E5%AD%94%E9%96%8B%E5%AD%98%EF%BC%88%E3%81%A8%E3%81%86%E3%81%A1%E3%82%87%E3%81%86%E3%81%93%E3%81%86%E3%83%BB%E3%81%8B%E3%81%84%E3%81%9E%E3%82%93%EF%BC%89\" >2. \u982d\u9802\u5b54\u958b\u5b58\uff08\u3068\u3046\u3061\u3087\u3046\u3053\u3046\u30fb\u304b\u3044\u305e\u3093\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#3_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%83%BB%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E%E3%83%BB%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1\" >3. \u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\u30fb\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" >1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#3_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\" >3. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB_CMA\" >1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBCT%E3%83%BBMRI%EF%BC%89\" >2. \u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\u30fbMRI\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#3_%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\" >3. \u773c\u79d1\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#1_%E9%A0%AD%E9%83%A8%E3%81%AE%E4%BF%9D%E8%AD%B7%EF%BC%88%E9%A0%AD%E9%A0%82%E5%AD%94%E3%81%B8%E3%81%AE%E5%AF%BE%E7%AD%96%EF%BC%89\" >1. \u982d\u90e8\u306e\u4fdd\u8b77\uff08\u982d\u9802\u5b54\u3078\u306e\u5bfe\u7b56\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#2_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%E3%81%AE%E7%AE%A1%E7%90%86\" >2. \u591a\u767a\u6027\u5916\u9aa8\u816b\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#3_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >3. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#4_%E7%9C%BC%E7%A7%91%E3%83%BB%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E3%82%B1%E3%82%A2\" >4. \u773c\u79d1\u30fb\u305d\u306e\u4ed6\u306e\u30b1\u30a2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>11p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u300c11\u756a\u67d3\u8272\u4f53\u300d\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3044\u308b\uff08\u6b20\u5931\u3057\u3066\u3044\u308b\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u898b\u8005\u306e\u540d\u524d\u306b\u3061\u306a\u3093\u3067\u3001\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08Potocki-Shaffer syndrome: PSS\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u3053\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u304b\u3068\u3044\u3046\u300c\u4f4f\u6240\u300d\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Chromosome 11\uff0811\u756a\u67d3\u8272\u4f53\uff09:<\/strong> \u30d2\u30c8\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u4e2d\u304f\u3089\u3044\u306e\u5927\u304d\u3055\u3092\u6301\u306411\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>p\uff08\u77ed\u8155\uff09:<\/strong> \u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>11.2\uff08\u9818\u57df\uff09:<\/strong> \u77ed\u8155\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c11.2\u756a\u300d\u3068\u3044\u3046\u533a\u753b\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion\uff08\u6b20\u5931\uff09:<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E6%95%B0%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E6%8A%9C%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u6570\u30da\u30fc\u30b8\u304c\u629c\u3051\u3066\u3044\u308b\u72b6\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u3092\u300c\u516846\u5dfb\u306e\u767e\u79d1\u4e8b\u5178\uff08\u4f53\u306e\u8a2d\u8a08\u56f3\uff09\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001**\u300c\u7b2c11\u5dfb\u306ep11.2\u3068\u3044\u3046\u7ae0\u306e\u3001\u6570\u30da\u30fc\u30b8\u304c\u307e\u3068\u3081\u3066\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u300d**\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u6570\u30da\u30fc\u30b8\u306b\u306f\u3001\u9aa8\u3084\u982d\u84cb\u9aa8\u3001\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u72ec\u7acb\u3057\u305f\u907a\u4f1d\u5b50\u304c\u4e26\u3093\u3067\u66f8\u304b\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u8907\u6570\u306e\u75c7\u72b6\u304c\u30bb\u30c3\u30c8\u3067\u73fe\u308c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6\u3068\u539f\u56e0\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306b\u306f\u3001\u300c3\u3064\u306e\u5927\u304d\u306a\u7279\u5fb4\u300d\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u300c\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u300d\u3068\u76f4\u63a5\u30ea\u30f3\u30af\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%EF%BC%88%E3%81%9F%E3%81%AF%E3%81%A4%E3%81%9B%E3%81%84%E3%83%BB%E3%81%8C%E3%81%84%E3%81%93%E3%81%A4%E3%81%97%E3%82%85%EF%BC%89\"><\/span><strong>1. \u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u305f\u306f\u3064\u305b\u3044\u30fb\u304c\u3044\u3053\u3064\u3057\u3085\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\uff1aEXT2<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4ee3\u8868\u7684\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304b:<br>\u9aa8\u306e\u8868\u9762\u306b\u3001\u826f\u6027\u306e\u9aa8\u306e\u51fa\u3063\u5f35\u308a\uff08\u30b3\u30d6\u306e\u3088\u3046\u306a\u3082\u306e\uff09\u304c\u8907\u6570\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u5916\u9aa8\u816b\uff08\u304c\u3044\u3053\u3064\u3057\u3085\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3067\u304d\u308b\u5834\u6240:<br>\u624b\u8db3\u306e\u9577\u3044\u9aa8\uff08\u8155\u3084\u811a\uff09\u3001\u808b\u9aa8\u3001\u9aa8\u76e4\u306a\u3069\u306b\u3088\u304f\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff:<br>\u30b3\u30d6\u81ea\u4f53\u306f\u826f\u6027\u3067\u3059\u304c\u3001\u5927\u304d\u304f\u306a\u308b\u3068\u795e\u7d4c\u3084\u8840\u7ba1\u3092\u5727\u8feb\u3057\u3066\u75db\u307f\u304c\u51fa\u305f\u308a\u3001\u95a2\u7bc0\u306e\u52d5\u304d\u3092\u60aa\u304f\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u9aa8\u306e\u6210\u9577\u3092\u59a8\u3052\u3066\u3001\u624b\u8db3\u306e\u9577\u3055\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u60aa\u304f\u306a\u308b\u3053\u3068\u3084\u3001\u5909\u5f62\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6642\u671f:<br>\u751f\u307e\u308c\u305f\u6642\u306b\u306f\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u5f90\u3005\u306b\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%A0%AD%E9%A0%82%E5%AD%94%E9%96%8B%E5%AD%98%EF%BC%88%E3%81%A8%E3%81%86%E3%81%A1%E3%82%87%E3%81%86%E3%81%93%E3%81%86%E3%83%BB%E3%81%8B%E3%81%84%E3%81%9E%E3%82%93%EF%BC%89\"><\/span><strong>2. \u982d\u9802\u5b54\u958b\u5b58\uff08\u3068\u3046\u3061\u3087\u3046\u3053\u3046\u30fb\u304b\u3044\u305e\u3093\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\uff1aALX4<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304b:<br>\u8d64\u3061\u3083\u3093\u306e\u982d\u306b\u306f\u300c\u5927\u6cc9\u9580\uff08\u3060\u3044\u305b\u3093\u3082\u3093\uff09\u300d\u3068\u3044\u3046\u67d4\u3089\u304b\u3044\u90e8\u5206\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u901a\u5e38\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u9589\u3058\u307e\u3059\u3002<br>\u3057\u304b\u3057\u3001\u3053\u306e\u75c7\u5019\u7fa4\u3067\u306f\u3001\u982d\u306e\u3066\u3063\u307a\u3093\u306e\u4e21\u30b5\u30a4\u30c9\uff08\u982d\u9802\u9aa8\uff09\u306b\u3001\u9aa8\u304c\u3067\u304d\u305a\u306b\u7a74\u304c\u958b\u3044\u305f\u307e\u307e\u306e\u90e8\u5206\uff08\u5b54\uff09\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u898b\u305f\u76ee:<br>\u89e6\u308b\u3068\u30da\u30b3\u30da\u30b3\u3057\u3066\u3044\u305f\u308a\u3001\u76ae\u819a\u3092\u901a\u3057\u3066\u8108\u6253\u3064\u306e\u304c\u898b\u3048\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff:<br>\u8133\u304c\u76f4\u63a5\u76ae\u819a\u306e\u4e0b\u306b\u3042\u308b\u72b6\u614b\u306b\u8fd1\u3044\u7b87\u6240\u304c\u3042\u308b\u305f\u3081\u3001\u982d\u3092\u3076\u3064\u3051\u306a\u3044\u3088\u3046\u306b\u4fdd\u8b77\u3059\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%83%BB%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E%E3%83%BB%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1\"><\/span><strong>3. \u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\u30fb\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\uff1aPHF21A<\/p>\n\n\n\n<p>\u8133\u306e\u767a\u9054\u3084\u9854\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c:<br>\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3084\u3001\u8a00\u8449\u306e\u767a\u9054\u304c\u5168\u4f53\u7684\u306b\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>:<br>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u3001\u6642\u306b\u306f\u91cd\u5ea6\u307e\u3067\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u304a\u9854\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u306e\u5f62\u304c\u524d\u5f8c\u306b\u77ed\u3044\uff08\u77ed\u982d\uff09\u3002<\/li>\n\n\n\n<li>\u304a\u3067\u3053\u304c\u5e83\u3044\u3002<\/li>\n\n\n\n<li>\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff08\u773c\u9593\u958b\u96e2\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u304c\u77ed\u3044\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u53e3\u304c\u5c0f\u3055\u3044\u3001\u306a\u3069\u3002<br>\u3053\u308c\u3089\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u500b\u6027\u306b\u99b4\u67d3\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u306e\u554f\u984c:<\/strong> \u8996\u795e\u7d4c\u306e\u5f62\u6210\u4e0d\u5168\u3084\u3001\u659c\u8996\u3001\u8fd1\u8996\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38:<\/strong> \u814e\u81d3\u306e\u5f62\u306e\u554f\u984c\u3084\u3001\u7537\u5150\u306e\u505c\u7559\u7cbe\u5de3\uff08\u91d1\u7389\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09:<\/strong> \u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u82e6\u624b\u3068\u3044\u3063\u305f\u7279\u6027\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5747\u8861\u578b\u8ee2\u5ea7:<\/strong> \u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u3001\u907a\u4f1d\u60c5\u5831\u306e\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u300c\u4e0d\u5747\u8861\uff08\u6b20\u5931\uff09\u300d\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u203b\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\"><\/span><strong>3. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306f\u7236\u7531\u6765\u3068\u6bcd\u7531\u6765\u306e2\u3064\u304c\u30bb\u30c3\u30c8\u3067\u50cd\u304d\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u7247\u65b9\u304c\u6b20\u5931\u3057\u3066\u3057\u307e\u3046\u3068\u3001\u6b8b\u308a\u306e1\u3064\u3060\u3051\u3067\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u8db3\u308a\u305a\u3001\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u679c\u305f\u305b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>EXT2\u304c\u534a\u5206<\/strong> \u2192 \u9aa8\u306e\u30b3\u30d6\u304c\u3067\u304d\u308b\u3002<\/li>\n\n\n\n<li><strong>ALX4\u304c\u534a\u5206<\/strong> \u2192 \u982d\u84cb\u9aa8\u306b\u7a74\u304c\u6b8b\u308b\u3002<\/li>\n\n\n\n<li>PHF21A\u304c\u534a\u5206 \u2192 \u77e5\u7684\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3002<br>\u3053\u306e\u3088\u3046\u306b\u3001\u907a\u4f1d\u5b50\u306e\u300c\u91cf\u300d\u304c\u8db3\u308a\u306a\u3044\u3053\u3068\u304c\u76f4\u63a5\u306e\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u901a\u5e38\u3001\u751f\u307e\u308c\u305f\u6642\u306e\u7279\u5fb4\uff08\u982d\u84cb\u9aa8\u306e\u7a74\uff09\u3084\u767a\u9054\u306e\u9045\u308c\u3001\u3042\u308b\u3044\u306f\u5e7c\u5150\u671f\u306b\u9aa8\u306e\u30b3\u30d6\u304c\u898b\u3064\u304b\u3063\u305f\u3053\u3068\u3067\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB_CMA\"><\/span><strong>1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u3001\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306fDNA\u30ec\u30d9\u30eb\u3067\u8abf\u3079\u308b\u305f\u3081\u3001\u300c11p11.2\u306e\u3069\u306e\u7bc4\u56f2\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u300cEXT2\u3084ALX4\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u300d\u3068\u3044\u3063\u305f\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBCT%E3%83%BBMRI%EF%BC%89\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\u30fbMRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u8eab\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\uff08\u9aa8\u683c\u30b5\u30fc\u30d9\u30a4\uff09:<\/strong> \u5916\u9aa8\u816b\uff08\u9aa8\u306e\u30b3\u30d6\uff09\u304c\u3069\u3053\u306b\u3042\u308b\u304b\u3001\u5909\u5f62\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8CT\/MRI:<\/strong> \u300c\u982d\u9802\u5b54\uff08\u982d\u306e\u7a74\uff09\u300d\u306e\u5927\u304d\u3055\u3084\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u8133\u306e\u69cb\u9020\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3082\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u814e\u81d3\u306a\u3069\u306e\u5185\u81d3\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u773c\u79d1\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8996\u529b\u3084\u76ee\u306e\u5965\uff08\u773c\u5e95\uff09\u306e\u72b6\u614b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3448699_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121744\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\uff08\u6839\u672c\u6cbb\u7642\uff09\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306f\u3001\u75c7\u72b6\u3054\u3068\u306e\u5bfe\u5fdc\u7b56\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u9069\u5207\u306a\u300c\u7ba1\u7406\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09\u300d\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5065\u5eb7\u3092\u5b88\u308a\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%A0%AD%E9%83%A8%E3%81%AE%E4%BF%9D%E8%AD%B7%EF%BC%88%E9%A0%AD%E9%A0%82%E5%AD%94%E3%81%B8%E3%81%AE%E5%AF%BE%E7%AD%96%EF%BC%89\"><\/span><strong>1. \u982d\u90e8\u306e\u4fdd\u8b77\uff08\u982d\u9802\u5b54\u3078\u306e\u5bfe\u7b56\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u84cb\u9aa8\u306b\u6b20\u640d\u304c\u3042\u308b\uff08\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\uff09\u5834\u5408\u3001\u8133\u3092\u885d\u6483\u304b\u3089\u5b88\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4fdd\u8b77\u5e3d\uff08\u30d8\u30eb\u30e1\u30c3\u30c8\uff09:<\/strong> \u8ee2\u3093\u3067\u982d\u3092\u3076\u3064\u3051\u3084\u3059\u3044\u5e7c\u5150\u671f\u306a\u3069\u306f\u3001\u4fdd\u8b77\u7528\u306e\u30d8\u30eb\u30e1\u30c3\u30c8\u3084\u3001\u30af\u30c3\u30b7\u30e7\u30f3\u6027\u306e\u3042\u308b\u5e3d\u5b50\u3092\u7740\u7528\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u6307\u5c0e:<\/strong> \u6fc0\u3057\u3044\u30b3\u30f3\u30bf\u30af\u30c8\u30b9\u30dd\u30fc\u30c4\u306a\u3069\u306f\u907f\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u5b89\u5168\u306b\u904b\u52d5\u3092\u697d\u3057\u3080\u65b9\u6cd5\u306f\u898b\u3064\u3051\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853:<\/strong> \u6b20\u640d\u5b54\u304c\u5927\u304d\u304f\u3001\u81ea\u7136\u9589\u9396\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u6210\u9577\u3057\u3066\u304b\u3089\u982d\u84cb\u9aa8\u3092\u5f62\u6210\u3059\u308b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>2. \u591a\u767a\u6027\u5916\u9aa8\u816b\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u9aa8\u306e\u30b3\u30d6\u304c\u5927\u304d\u304f\u306a\u3063\u3066\u3044\u306a\u3044\u304b\u3001\u9aa8\u306e\u5909\u5f62\u304c\u9032\u3093\u3067\u3044\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306b\u6574\u5f62\u5916\u79d1\u3067\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853:<\/strong> \u30b3\u30d6\u304c\u795e\u7d4c\u3092\u5727\u8feb\u3057\u3066\u75db\u3080\u5834\u5408\u3084\u3001\u95a2\u7bc0\u306e\u52d5\u304d\u3092\u90aa\u9b54\u3059\u308b\u5834\u5408\u3001\u9aa8\u306e\u5909\u5f62\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u30b3\u30d6\u3092\u5207\u9664\u3059\u308b\u624b\u8853\u3084\u3001\u9aa8\u306e\u5f62\u3092\u6cbb\u3059\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u60aa\u6027\u5316\u306e\u76e3\u8996:<\/strong> \u3054\u304f\u7a00\u3067\u3059\u304c\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u5916\u9aa8\u816b\u304c\u60aa\u6027\u5316\uff08\u8edf\u9aa8\u8089\u816b\uff09\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u5b9a\u671f\u691c\u8a3a\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>3. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u3084\u4f53\u306e\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306b\u3001\u5c02\u9580\u5bb6\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5 (PT):<\/strong> \u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002\u9aa8\u306e\u5909\u5f62\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8ca0\u62c5\u306e\u304b\u304b\u3089\u306a\u3044\u4f53\u306e\u4f7f\u3044\u65b9\u3082\u5b66\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5 (OT):<\/strong> \u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u904a\u3073\u3084\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u8996\u899a\u7684\u306a\u624b\u304c\u304b\u308a\uff08\u7d75\u30ab\u30fc\u30c9\u306a\u3069\uff09\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%9C%BC%E7%A7%91%E3%83%BB%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>4. \u773c\u79d1\u30fb\u305d\u306e\u4ed6\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30ac\u30cd:<\/strong> \u8996\u529b\u304c\u5f31\u3044\u5834\u5408\u306f\u3001\u65e9\u671f\u304b\u3089\u30e1\u30ac\u30cd\u3084\u30b3\u30f3\u30bf\u30af\u30c8\u30ec\u30f3\u30ba\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u75db\u307f\u300d\u306e\u30b5\u30a4\u30f3\u306b\u6c17\u3065\u304f:<br>\u8a00\u8449\u3067\u3046\u307e\u304f\u4f1d\u3048\u3089\u308c\u306a\u3044\u5834\u5408\u3001\u7279\u5b9a\u306e\u52d5\u304d\u3092\u5acc\u304c\u3063\u305f\u308a\u3001\u4e0d\u6a5f\u5acc\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u306e\u306f\u3001\u9aa8\u306e\u30b3\u30d6\u304c\u5f53\u305f\u3063\u3066\u75db\u3044\u304b\u3089\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u300c\u308f\u304c\u307e\u307e\u300d\u3068\u6349\u3048\u305a\u3001\u4f53\u306e\u3069\u3053\u304b\u304c\u75db\u304f\u306a\u3044\u304b\u78ba\u8a8d\u3057\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u5b89\u5168\u306a\u74b0\u5883\u3065\u304f\u308a:<br>\u982d\u3092\u5b88\u308b\u305f\u3081\u3001\u5bb6\u306e\u4e2d\u306e\u5bb6\u5177\u306e\u89d2\u306b\u30af\u30c3\u30b7\u30e7\u30f3\u6750\u3092\u8cbc\u308b\u306a\u3069\u306e\u5de5\u592b\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7:<br>\u5468\u308a\u306e\u5b50\u3068\u6bd4\u3079\u305a\u3001\u300c\u534a\u5e74\u524d\u306e\u3053\u306e\u5b50\u300d\u3068\u6bd4\u3079\u3066\u304f\u3060\u3055\u3044\u3002\u767a\u9054\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u78ba\u5b9f\u306b\u9032\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Q. \u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u4e00\u822c\u7684\u306b\u3001\u91cd\u7be4\u306a\u5408\u4f75\u75c7\uff08\u814e\u4e0d\u5168\u306a\u3069\uff09\u304c\u306a\u3051\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c\uff08\u5bff\u547d\uff09\u306f\u826f\u597d\u3067\u3042\u308a\u3001\u6210\u4eba\u3057\u3066\u751f\u6d3b\u3057\u3066\u3044\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5916\u9aa8\u816b\u306e\u7ba1\u7406\u3084\u982d\u90e8\u306e\u4fdd\u8b77\u306a\u3069\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u30b1\u30a2\u306f\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>Q. \u982d\u306e\u7a74\uff08\u982d\u9802\u5b54\uff09\u306f\u585e\u304c\u308a\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u5c0f\u3055\u306a\u3082\u306e\u3067\u3042\u308c\u3070\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u81ea\u7136\u306b\u9589\u9396\u3057\u305f\u308a\u3001\u76ee\u7acb\u305f\u306a\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u5927\u304d\u306a\u3082\u306e\u306e\u5834\u5408\u306f\u6b8b\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u533b\u5e2b\u306b\u3088\u308b\u7d4c\u904e\u89b3\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>Q. \u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u89aa\u5fa1\u3055\u3093\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u4e21\u89aa\u304c\u6b63\u5e38\uff08de novo\u5909\u7570\uff09\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u3068\u540c\u3058\u304f\u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\uff081%\u4ee5\u4e0b\uff09\u3002\u89aa\u5fa1\u3055\u3093\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u78ba\u7387\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>11p11.2\u6b20\u5931\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u3088\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>3\u5927\u7279\u5fb4<\/strong>\u306f\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\uff08EXT2\uff09\u3001\u982d\u9802\u5b54\uff08ALX4\uff09\u3001\u767a\u9054\u9045\u6ede\u30fb\u9854\u8c8c\u7279\u5fb4\uff08PHF21A\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6700\u91cd\u8981\u4e8b\u9805<\/strong>\u306f\u3001\u982d\u90e8\u306e\u4fdd\u8b77\u3068\u3001\u9aa8\u306e\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad<\/strong>\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u6709\u52b9\u3067\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u3084CT\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u7ba1\u7406\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u300c\u9aa8\u306e\u30b3\u30d6\u300d\u300c\u982d\u306e\u7a74\u300d\u3068\u3044\u3063\u305f\u805e\u304d\u6163\u308c\u306a\u3044\u75c7\u72b6\u306b\u3001\u5927\u304d\u306a\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u666e\u901a\u306b\u30b9\u30dd\u30fc\u30c4\u306f\u3067\u304d\u308b\u306e\u304b\u306a\u300d\u300c\u5b66\u6821\u751f\u6d3b\u306f\u5927\u4e08\u592b\u304b\u306a\u300d\u3068\u3001\u5c06\u6765\u3092\u6848\u3058\u308b\u304a\u6c17\u6301\u3061\u3001\u75db\u3044\u307b\u3069\u5206\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u7b11\u9854\u3044\u3063\u3071\u3044\u306b\u904e\u3054\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d8\u30eb\u30e1\u30c3\u30c8\u306f\u304a\u5b50\u69d8\u3092\u5b88\u308b\u300c\u93a7\u300d\u3068\u306a\u308a\u3001\u5b9a\u671f\u691c\u8a3a\u306f\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u898b\u5b88\u308b\u300c\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u306e\u7279\u5fb4\u3084\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u5f7c\u3089\u306f\u72ec\u81ea\u306e\u611f\u6027\u3067\u4e16\u754c\u3092\u697d\u3057\u307f\u3001\u5bb6\u65cf\u306b\u611b\u3068\u6c17\u3065\u304d\u3092\u4e0e\u3048\u3066\u304f\u308c\u308b\u5b58\u5728\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306b\u3001\u8fd1\u6240\u306b\u540c\u3058\u75c5\u6c17\u306e\u5b50\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7406\u5b66\u7642\u6cd5\u58eb\u3001\u7fa9\u80a2\u88c5\u5177\u58eb\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u304a\u5b50\u69d8\u3092\u652f\u3048\u308b\u300c\u30c1\u30fc\u30e0\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u5c02\u9580\u5bb6\u304c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u306f\u805e\u304d\u3001\u8f9b\u3044\u6642\u306f\u5410\u304d\u51fa\u3057\u3001\u5468\u308a\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u7126\u3089\u305a\u3001\u4e00\u65e5\u4e00\u65e5\u3092\u5927\u5207\u306b\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u7b11\u9854\u3092\u5b88\u308b\u305f\u3081\u306b\u3001\u4eca\u65e5\u3067\u304d\u308b\u30b1\u30a2\u3092\u4e00\u3064\u305a\u3064\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u79c1\u305f\u3061\u3082\u3001\u305d\u306e\u6b69\u307f\u3092\u5fdc\u63f4\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c11\u756a\u67d3\u8272\u4f53p11.2\u6b20\u5931\uff08C&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121607,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121801","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121801","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121801"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121801\/revisions"}],"predecessor-version":[{"id":121804,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121801\/revisions\/121804"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121607"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121801"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121801"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121801"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}