{"id":121870,"date":"2026-01-07T17:51:31","date_gmt":"2026-01-07T08:51:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121870"},"modified":"2026-07-24T05:20:14","modified_gmt":"2026-07-23T20:20:14","slug":"chromosome-16p12-2-p11-2-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/","title":{"rendered":"16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff5c\u75c7\u72b6\u30fb\u539f\u56e0\u30fbNIPT\u3068\u306e\u95a2\u4fc2"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155(p\u8155)\u306b\u3042\u308b\u5e83\u3044\u7bc4\u56f2\u3001\u304a\u3088\u305d7.1\u301c8.7Mb(\u30e1\u30ac\u30d9\u30fc\u30b9)\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>2007\u5e74\u306bBallif\u3089\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c\u521d\u3081\u3066\u5831\u544a\u3057\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u54fa\u4e73\u56f0\u96e3\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p><p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306e\u5927\u534a\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u307f\u3089\u308c\u306a\u3044\u7a81\u7136\u5909\u7570(de novo)\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u540d\u524d\u304c\u3088\u304f\u4f3c\u305f\u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u306f\u6b20\u5931\u7bc4\u56f2\u304c\u305a\u3063\u3068\u72ed\u304f\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3082\u7570\u306a\u308b\u5225\u306e\u75c5\u614b\u306e\u305f\u3081\u3001\u672c\u8a18\u4e8b\u5185\u3067\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u8a3a\u65ad\u306b\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u306e\u57fa\u672c\u9805\u76ee\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u7642\u80b2\u3068\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3067\u304a\u5b50\u69d8\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b\u3001\u3088\u304f\u4f3c\u305f\u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044<\/li>\n<li>\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u306a\u3069\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>\u307b\u3068\u3093\u3069\u304c\u7a81\u7136\u5909\u7570(de novo)\u3067\u8d77\u3053\u308b\u7406\u7531\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f<\/li>\n<li>NIPT\u3068\u306e\u95a2\u4fc2\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>\u7642\u80b2\u30fb\u5408\u4f75\u75c7\u7ba1\u7406\u30fb\u5bb6\u65cf\u304c\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"454\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/1909409_s-2.webp\" alt=\"16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3092\u898b\u5b88\u308b\u3054\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121542\"\/><\/figure><\/div>\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#16p122-p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-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-16p12-2-p11-2-deletion-syndrome-guide\/#%E3%80%8C16p122%E6%AC%A0%E5%A4%B1%E8%BF%91%E4%BD%8D%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >\u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%83%BB%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1%E3%83%BB%E5%90%88%E4%BD%B5%E7%97%87\" >\u4e3b\u306a\u75c7\u72b6\uff5c\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u5408\u4f75\u75c7<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#1_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\" >1. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1%E3%83%BB%E8%BA%AB%E4%BD%93%E3%81%AE%E6%89%80%E8%A6%8B\" >2. \u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u8eab\u4f53\u306e\u6240\u898b<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >3. \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-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BD%9C%E3%81%93%E3%81%93%E3%81%8C%E9%87%8D%E8%A6%81\" >\u539f\u56e0\u3068\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff5c\u3053\u3053\u304c\u91cd\u8981<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#%E3%81%AA%E3%81%9C%E6%AC%A0%E5%A4%B1%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B%E9%9D%9E%E3%82%A2%E3%83%AA%E3%83%AB%E6%80%A7%E7%9B%B8%E5%90%8C%E7%B5%84%E6%8F%9B%E3%81%88\" >\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b(\u975e\u30a2\u30ea\u30eb\u6027\u76f8\u540c\u7d44\u63db\u3048)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo\" >\u307b\u3068\u3093\u3069\u304c\u7a81\u7136\u5909\u7570(de novo)<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E3%81%BE%E3%82%8C%E3%81%AB%E8%A6%AA%E3%81%AE%E5%9D%87%E8%A1%A1%E5%9E%8B%E6%A7%8B%E9%80%A0%E7%95%B0%E5%B8%B8%E3%81%AB%E7%94%B1%E6%9D%A5%E3%81%99%E3%82%8B%E3%82%B1%E3%83%BC%E3%82%B9\" >\u307e\u308c\u306b\u89aa\u306e\u5747\u8861\u578b\u69cb\u9020\u7570\u5e38\u306b\u7531\u6765\u3059\u308b\u30b1\u30fc\u30b9<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E3%80%8C16p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E8%87%AA%E9%96%89%E7%97%87%E9%96%A2%E9%80%A3%E9%A0%98%E5%9F%9F%E3%80%8D%E3%81%A8%E3%81%AF%E5%88%A5%E3%81%AE%E9%A0%98%E5%9F%9F\" >\u300c16p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u81ea\u9589\u75c7\u95a2\u9023\u9818\u57df)\u300d\u3068\u306f\u5225\u306e\u9818\u57df<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%EF%BD%9C%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%E3%81%A7%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B\" >\u8a3a\u65ad\u3068\u691c\u67fb\uff5c\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%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%BBCMA\" >\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-16p12-2-p11-2-deletion-syndrome-guide\/#NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >NIPT\u3068\u306e\u95a2\u4fc2<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E3%81%94%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB%E4%BF%9D%E5%9B%A0%E8%80%85%E8%A8%BA%E6%96%AD%E3%82%92%E8%A1%8C%E3%81%86%E3%81%8B\" >\u3054\u4e21\u89aa\u306e\u691c\u67fb(\u4fdd\u56e0\u8005\u8a3a\u65ad)\u3092\u884c\u3046\u304b<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BD%9C%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\uff5c\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-16p12-2-p11-2-deletion-syndrome-guide\/#%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >\u65e9\u671f\u7642\u80b2(\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3)<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\" >\u5408\u4f75\u75c7\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-16p12-2-p11-2-deletion-syndrome-guide\/#%E6%95%99%E8%82%B2%E3%83%BB%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83\" >\u6559\u80b2\u30fb\u751f\u6d3b\u74b0\u5883<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#%E5%AE%B6%E6%97%8F%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3\" >\u5bb6\u65cf\u306e\u652f\u63f4\u3068\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3<\/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-16p12-2-p11-2-deletion-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8FFAQ\" >\u3088\u304f\u3042\u308b\u8cea\u554f(FAQ)<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#Q_16p122-p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q. 16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#Q_%E3%80%8C16p122%E6%AC%A0%E5%A4%B1%E8%BF%91%E4%BD%8D%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#Q_%E3%80%8C16p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E8%87%AA%E9%96%89%E7%97%87%E9%96%A2%E9%80%A3%E3%80%8D%E3%81%A8%E3%82%82%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u300c16p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u81ea\u9589\u75c7\u95a2\u9023)\u300d\u3068\u3082\u9055\u3044\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#Q_%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E9%81%8E%E3%81%94%E3%81%97%E6%96%B9%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#Q_%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u6b21\u306e\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#Q_NIPT%E3%81%A7%E3%81%93%E3%81%AE%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q. NIPT\u3067\u3053\u306e\u5fae\u5c0f\u6b20\u5931\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#Q_%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-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-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-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><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/#%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3_%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3:\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"16p122-p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%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>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155(p\u8155)\u306b\u3042\u308bp12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u306e\u5e83\u3044\u7bc4\u56f2\u3001\u304a\u3088\u305d7.1\u301c8.7Mb\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>2007\u5e74\u3001Ballif\u3089\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c\u3001\u767a\u9054\u306b\u8ab2\u984c\u306e\u3042\u308b4\u540d\u306e\u60a3\u8005\u3055\u3093\u3067\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u3092\u767a\u898b\u3057\u3001Nature Genetics\u8a8c\u3067\u65b0\u3057\u3044\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5831\u544a\u3057\u307e\u3057\u305f\u3002\u307e\u305a\u306f\u75c5\u540d\u306e\u610f\u5473\u3068\u3001\u75c5\u6c17\u306e\u5168\u4f53\u50cf\u304b\u3089\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300c16\u756a\u67d3\u8272\u4f53p12.2-p11.2\u6b20\u5931\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u6570\u5b57\u3068\u30a2\u30eb\u30d5\u30a1\u30d9\u30c3\u30c8\u306e\u7f85\u5217\u306b\u4e0d\u5b89\u3092\u899a\u3048\u305f\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u8fd1\u304f\u306e\u9818\u57df\u306b\u3042\u308b\u300c16p11.2\u6b20\u5931\u75c7\u5019\u7fa4(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b\u9818\u57df)\u300d\u306e\u60c5\u5831\u306f\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u8a18\u4e8b\u3067\u6271\u3046\u300cp12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u306e\u3001\u3088\u308a\u5e83\u3044\u9023\u7d9a\u3057\u305f\u6b20\u5931\u300d\u306b\u3064\u3044\u3066\u306e\u65e5\u672c\u8a9e\u60c5\u5831\u306f\u975e\u5e38\u306b\u5c11\u306a\u3044\u306e\u304c\u5b9f\u60c5\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\u8907\u96d1\u306a\u540d\u524d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\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\u3072\u3068\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Chromosome 16(16\u756a\u67d3\u8272\u4f53): \u30d2\u30c8\u304c\u6301\u306423\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u300116\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li>p(\u77ed\u8155): \u67d3\u8272\u4f53\u306e\u304f\u3073\u308c(\u52d5\u539f\u4f53)\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155(p)\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155(q)\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li>p12.2\u301cp11.2(\u7bc4\u56f2): \u77ed\u8155\u306e\u4e2d\u306e\u300c\u30d0\u30f3\u30c9\u300d\u3068\u547c\u3070\u308c\u308b\u533a\u753b\u306e\u3046\u3061\u300112.2\u756a\u5730\u304b\u3089\u52d5\u539f\u4f53\u306b\u8fd1\u304411.2\u756a\u5730\u306b\u304b\u3051\u3066\u306e\u3001\u9023\u7d9a\u3057\u305f\u5e83\u3044\u7bc4\u56f2\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>Deletion(\u6b20\u5931): \u305d\u306e\u7bc4\u56f2\u306e\u907a\u4f1d\u60c5\u5831\u304c\u307e\u3068\u3081\u3066\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u306e\u52d5\u539f\u4f53\u5468\u8fba\u306f\u3001\u3088\u304f\u4f3c\u305f\u914d\u5217\u304c\u7e70\u308a\u8fd4\u3055\u308c\u308b\u300c\u5206\u7bc0\u91cd\u8907\u300d\u306e\u591a\u3044\u3001\u69cb\u9020\u7684\u306b\u8907\u96d1\u306a\u9818\u57df\u3067\u3059\u3002\u3053\u306e\u7e70\u308a\u8fd4\u3057\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u7d44\u307f\u5909\u308f\u308b\u3053\u3068\u3067\u3001\u307e\u3068\u307e\u3063\u305f\u7bc4\u56f2\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a73\u3057\u3044\u4ed5\u7d44\u307f\u306f\u3001\u6b21\u306e\u300c\u539f\u56e0\u3068\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u300d\u306e\u7ae0\u3067\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C16p122%E6%AC%A0%E5%A4%B1%E8%BF%91%E4%BD%8D%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>\u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540d\u524d\u304c\u3088\u304f\u4f3c\u3066\u3044\u308b\u305f\u3081\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u306e\u3067\u3059\u304c\u3001<strong>\u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u3068\u3053\u306e\u300c16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u3001\u6b20\u5931\u3059\u308b\u7bc4\u56f2\u306e\u5e83\u3055\u3082\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3082\u7570\u306a\u308b\u5225\u306e\u75c5\u614b\u3067\u3059\u3002<\/strong>\u8868\u3067\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4<\/th><th>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u672c\u8a18\u4e8b)<\/th><\/tr><\/thead><tbody><tr><td>\u6b20\u5931\u7bc4\u56f2<\/td><td>16p12.2\u9818\u57df\u306e\u307f\u3001\u7d04520kb<\/td><td>p12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u3001\u7d047.1\u301c8.7Mb<\/td><\/tr><tr><td>\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50<\/td><td>UQCRC2\u306a\u30698\u907a\u4f1d\u5b50\u304c\u5831\u544a<\/td><td>\u7bc4\u56f2\u304c\u5e83\u3044\u305f\u3081\u3001\u3088\u308a\u591a\u6570\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080<\/td><\/tr><tr><td>\u907a\u4f1d\u306e\u50be\u5411<\/td><td>\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u3055\u308c\u308b<\/td><td>\u5927\u534a\u304cde novo(\u7a81\u7136)\u5909\u7570\u3067\u767a\u751f<\/td><\/tr><tr><td>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u306e\u50be\u5411<\/td><td>\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306a\u3069\u3002\u6d78\u900f\u7387\u304c\u4f4e\u3044<\/td><td>\u767a\u9054\u9045\u5ef6\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u54fa\u4e73\u56f0\u96e3\u30fb\u4e2d\u8033\u708e\u306a\u3069\u3002\u591a\u767a\u5947\u5f62\/<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5831\u544a<\/td><\/tr><\/tbody><\/table><figcaption>2\u3064\u306e16p\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u9055\u3044(\u6b20\u5931\u7bc4\u56f2\u30fb\u907a\u4f1d\u5f62\u5f0f\u30fb\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u306e\u50be\u5411)<\/figcaption><\/figure>\n\n\n\n<p>\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b20\u5931\u306e\u958b\u59cb\u4f4d\u7f6e\u30fb\u7d42\u4e86\u4f4d\u7f6e\u3092\u78ba\u8a8d\u3059\u308c\u3070\u3001\u3069\u3061\u3089\u306b\u8a72\u5f53\u3059\u308b\u304b\u304c\u5206\u304b\u308a\u307e\u3059\u3002\u8a73\u3057\u3044\u7bc4\u56f2\u304c\u3054\u4e0d\u660e\u306a\u5834\u5408\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u305f\u533b\u7642\u6a5f\u95a2\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u3088\u308a\u72ed\u3044\u7bc4\u56f2\u306e\u6b20\u5931\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p12-2-deletion-syndrome\/\">16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u306e\u8a18\u4e8b<\/a>\u3067\u3001\u53cd\u5bfe\u306b\u907a\u4f1d\u60c5\u5831\u304c\u5897\u3048\u308b\u300c\u91cd\u8907\u300d\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-duplication-syndrome-guide\/\">16p12.2-p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u8a18\u4e8b<\/a>\u3067\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/16p12-2-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">16p12.2\u6b20\u5931\uff08\u8fd1\u4f4d\uff09\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u6cbb\u7642 <\/div>\n          <div class=\"blog-card-excerpt\">16p12.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/chromosome-16p12-2-p11-2-duplication-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">16p12.2-p11.2\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f5316p12.2-p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u5fae\u7d30\u91cd\u8907\u306e\u7279\u5fb4\u3067\u3042\u308b\u300c\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u300d\u3084\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u30fb\u767a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\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%EF%BD%9C%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%83%BB%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1%E3%83%BB%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6\uff5c\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c7\u5019\u7fa4\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u54fa\u4e73\u56f0\u96e3\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u4e16\u754c\u7684\u306b\u307f\u3066\u3082\u5831\u544a\u4f8b\u305d\u306e\u3082\u306e\u304c\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3084\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGARD(\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc)\u3084NCBI MedGen\u306b\u96c6\u7a4d\u3055\u308c\u305f\u5831\u544a\u3092\u3082\u3068\u306b\u3001\u6bd4\u8f03\u7684\u3088\u304f\u307f\u3089\u308c\u308b\u7279\u5fb4\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u3092\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u54fa\u4e73\u56f0\u96e3\u3084\u4e2d\u8033\u708e\u30fb\u5408\u4f75\u75c7\u306b\u5206\u3051\u3066\u793a\u3057\u305f\u56f3\" viewBox=\"0 0 720 300\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"300\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"38\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6<\/text>\n  <rect x=\"40\" y=\"60\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"140\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u767a\u9054\u306e\u9045\u308c<\/text>\n  <text x=\"140\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u8a00\u8449\u306e\u9045\u308c<\/text>\n  <rect x=\"260\" y=\"60\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"360\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061<\/text>\n  <text x=\"360\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u5c0f\u984e\u30fb\u9ad8\u53e3\u84cb\u306a\u3069<\/text>\n  <rect x=\"480\" y=\"60\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"580\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u54fa\u4e73\u56f0\u96e3<\/text>\n  <text x=\"580\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059<\/text>\n  <rect x=\"40\" y=\"170\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"140\" y=\"205\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/text>\n  <text x=\"140\" y=\"225\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u624b\u8db3\u306e\u6240\u898b<\/text>\n  <rect x=\"260\" y=\"170\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"360\" y=\"205\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u5408\u4f75\u75c7<\/text>\n  <text x=\"360\" y=\"225\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u5fc3\u75be\u60a3\u30fb\u6210\u9577\u969c\u5bb3\u306a\u3069<\/text>\n  <rect x=\"480\" y=\"170\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"580\" y=\"205\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/text>\n<\/svg>\n<figcaption>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u30a4\u30e1\u30fc\u30b8(\u5168\u54e1\u306b\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093)<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>1. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u4e00\u756a\u5fc3\u914d\u3055\u308c\u308b\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<br>\u9996\u306e\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3001\u8a00\u8449\u3092\u8a71\u3059\u6642\u671f\u304c\u3001\u5e73\u5747\u3088\u308a\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002Battaglia\u3089\u306e\u5831\u544a\u4f8b\u3067\u306f\u3001\u767a\u8a9e\u304c\u307b\u3068\u3093\u3069\u307f\u3089\u308c\u306a\u304b\u3063\u305f\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3057\u305f\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\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u652f\u63f4\u306e\u5fc5\u8981\u6027\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>(ASD)\u30fb\u6ce8\u610f\u529b\u306e\u8ab2\u984c:<br>\u3053\u3060\u308f\u308a\u306e\u5f37\u3055\u3001\u5bfe\u4eba\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3001\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3001\u96c6\u4e2d\u529b\u306e\u7d9a\u304d\u306b\u304f\u3055\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1%E3%83%BB%E8%BA%AB%E4%BD%93%E3%81%AE%E6%89%80%E8%A6%8B\"><\/span><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u8eab\u4f53\u306e\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u3053\u306e\u75c7\u5019\u7fa4\u7279\u6709\u306e\u9854\u300d\u3068\u65ad\u5b9a\u3067\u304d\u308b\u307b\u3069\u5f37\u3044\u7279\u5fb4\u304c\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u3067\u306f\u5171\u901a\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002\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<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u304a\u9854\u7acb\u3061: \u9854\u304c\u5e73\u5766\u3001\u9f3b\u7b4b\u304c\u5e83\u304f\u9f3b\u5148\u304c\u3084\u3084\u4e0a\u3092\u5411\u304f(\u524d\u50be\u9f3b\u5b54)\u3001\u76ee\u306e\u5207\u308c\u8fbc\u307f(\u773c\u77bc\u88c2)\u304c\u4e0b\u304c\u308a\u6c17\u5473\u30fb\u77ed\u3081\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044(\u5c0f\u984e\u75c7)\u3001\u53e3\u84cb\u304c\u9ad8\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u304f\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\u3001\u984d\u304c\u5e83\u304f\u524d\u306b\u51fa\u3066\u3044\u308b\u3001\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u8db3\u306e\u6240\u898b: \u6307\u304c\u307e\u3063\u3059\u3050\u4f38\u3073\u306b\u304f\u3044(\u62d8\u7e2e)\u3001\u6307\u304c\u5f4e\u66f2\u3059\u308b(\u30af\u30ea\u30ce\u30c0\u30af\u30c1\u30ea\u30fc)\u3001\u6307\u304c\u77ed\u3081(\u77ed\u6307\u75c7)\u3001\u624b\u306e\u3072\u3089\u306e\u6a2a\u3058\u308f\u304c1\u672c(\u5358\u4e00\u624b\u638c\u7dda)\u3068\u3044\u3063\u305f\u6240\u898b\u304c\u4e00\u90e8\u3067\u307f\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577: \u4f4e\u8eab\u9577\u3001\u6210\u9577\u306e\u9045\u308c\u3001\u304a\u8179\u306e\u4e2d\u306b\u3044\u308b\u6642\u304b\u3089\u306e\u767a\u80b2\u4e0d\u5168(\u80ce\u5150\u767a\u80b2\u4e0d\u5168)\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>3. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u30fb\u80c3\u98df\u9053\u9006\u6d41: \u4e73\u5e7c\u5150\u671f\u306b\u3001\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u3044\u3001\u5410\u304d\u623b\u3057\u304c\u591a\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6613\u611f\u67d3\u6027\u30fb\u96e3\u8074: \u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u304f\u3001\u305d\u308c\u306b\u4f34\u3046\u96e3\u8074\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b: \u4f53\u304c\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u67d4\u3089\u304b\u3044\u72b6\u614b(\u4e73\u5150\u671f\u306e\u4f4e\u7dca\u5f35)\u304c\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u75be\u60a3\u30fb\u305d\u306e\u4ed6: \u5fc3\u81d3\u306e\u5f62\u614b\u7570\u5e38\u3084\u4e0d\u6574\u8108\u3001\u7761\u7720\u6642\u7121\u547c\u5438\u304c\u5831\u544a\u3055\u308c\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u300c\u691c\u67fb\u7d50\u679c\u306b\u4e26\u3076\u805e\u304d\u6163\u308c\u306a\u3044\u6240\u898b\u306e\u4e00\u89a7\u3092\u898b\u3066\u3001\u3059\u3079\u3066\u304c\u81ea\u5206\u306e\u5b50\u306b\u5f53\u3066\u306f\u307e\u308b\u306e\u3067\u306f\u3068\u4e0d\u5b89\u306b\u306a\u3063\u305f\u300d\u3068\u3044\u3046\u304a\u58f0\u3092\u4f55\u5ea6\u3082\u4f3a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306f\u3042\u304f\u307e\u3067\u904e\u53bb\u306e\u5831\u544a\u4f8b\u3092\u307e\u3068\u3081\u305f\u3082\u306e\u3067\u3059\u3002<strong>\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u3072\u3068\u308a\u306e\u304a\u5b50\u69d8\u306b\u63c3\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u76ee\u306e\u524d\u306e\u304a\u5b50\u69d8\u306e\u69d8\u5b50\u3092\u4e01\u5be7\u306b\u898b\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u4f55\u3088\u308a\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BD%9C%E3%81%93%E3%81%93%E3%81%8C%E9%87%8D%E8%A6%81\"><\/span><strong>\u539f\u56e0\u3068\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff5c\u3053\u3053\u304c\u91cd\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u5927\u534a\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u307f\u3089\u308c\u306a\u3044\u7a81\u7136\u5909\u7570(de novo)\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/strong>\u300c\u306a\u305c\u81ea\u5206\u306e\u5b50\u3060\u3051\u306b\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u3054\u5bb6\u65cf\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u307e\u305a\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E6%AC%A0%E5%A4%B1%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B%E9%9D%9E%E3%82%A2%E3%83%AA%E3%83%AB%E6%80%A7%E7%9B%B8%E5%90%8C%E7%B5%84%E6%8F%9B%E3%81%88\"><\/span><strong>\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b(\u975e\u30a2\u30ea\u30eb\u6027\u76f8\u540c\u7d44\u63db\u3048)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u306e\u52d5\u539f\u4f53\u5468\u8fba\u306f\u3001\u3088\u304f\u4f3c\u305f\u914d\u5217\u304c\u7e70\u308a\u8fd4\u3055\u308c\u308b\u300c\u5206\u7bc0\u91cd\u8907\u300d\u306e\u591a\u3044\u3001\u69cb\u9020\u7684\u306b\u8907\u96d1\u306a\u9818\u57df\u3067\u3059\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u3001\u3053\u306e\u7e70\u308a\u8fd4\u3057\u914d\u5217\u540c\u58eb\u304c\u672c\u6765\u3068\u306f\u9055\u3046\u5834\u6240\u3067\u7d44\u307f\u5909\u308f\u3063\u3066\u3057\u307e\u3046\u73fe\u8c61\u3092\u300c\u975e\u30a2\u30ea\u30eb\u6027\u76f8\u540c\u7d44\u63db\u3048(NAHR)\u300d\u3068\u547c\u3073\u307e\u3059\u3002Ballif\u3089\u306e\u5831\u544a\u3067\u306f\u3001\u3053\u306e\u6a5f\u5e8f\u306b\u3088\u3063\u3066p12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u306e\u7bc4\u56f2\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u3055\u308c\u307e\u3057\u305f\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u5831\u544a\u3067\u306f\u304a\u3088\u305d7.1Mb\u304b\u30898.7Mb\u306e\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo\"><\/span><strong>\u307b\u3068\u3093\u3069\u304c\u7a81\u7136\u5909\u7570(de novo)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2007\u5e74\u306eBallif\u3089\u306e\u5831\u544a\u3001\u304a\u3088\u30732009\u5e74\u306eBattaglia\u3089\u306b\u3088\u308b\u8ffd\u52a0\u5831\u544a\u306e\u3044\u305a\u308c\u3067\u3082\u3001\u6b20\u5931\u306f\u5065\u5eb7\u306a\u3054\u4e21\u89aa\u304b\u3089\u751f\u307e\u308c\u305f\u304a\u5b50\u69d8\u306b\u65b0\u3057\u304f\u751f\u3058\u305fde novo\u5909\u7570\u3067\u3057\u305f\u3002\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\u3054\u304f\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u305f\u3082\u306e\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3001\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u30fb\u85ac\u30fb\u30b9\u30c8\u30ec\u30b9\u30fb\u751f\u6d3b\u74b0\u5883\u306f\u95a2\u4fc2\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u300c\u598a\u5a20\u4e2d\u306b\u4f55\u304b\u60aa\u3044\u3053\u3068\u3092\u3057\u3066\u3057\u307e\u3063\u305f\u306e\u3067\u306f\u300d\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u3054\u4e21\u89aa\u306b\u4f55\u5ea6\u3082\u304a\u4f1a\u3044\u3057\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u4eca\u56de\u306e\u3088\u3046\u306a\u5e83\u3044\u7bc4\u56f2\u306e\u6b20\u5931\u306f\u3001\u305d\u306e\u307b\u3068\u3093\u3069\u304c\u5076\u767a\u7684\u306b\u751f\u3058\u308bde novo\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3069\u3046\u304b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%82%8C%E3%81%AB%E8%A6%AA%E3%81%AE%E5%9D%87%E8%A1%A1%E5%9E%8B%E6%A7%8B%E9%80%A0%E7%95%B0%E5%B8%B8%E3%81%AB%E7%94%B1%E6%9D%A5%E3%81%99%E3%82%8B%E3%82%B1%E3%83%BC%E3%82%B9\"><\/span><strong>\u307e\u308c\u306b\u89aa\u306e\u5747\u8861\u578b\u69cb\u9020\u7570\u5e38\u306b\u7531\u6765\u3059\u308b\u30b1\u30fc\u30b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306a\u3069\u306e\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u3092\u4fdd\u56e0\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u5747\u8861\u578b\u8ee2\u5ea7\u306f\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u907a\u4f1d\u60c5\u5831\u306e\u7dcf\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u4e0d\u5747\u8861\u306a\u6b20\u5931\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C16p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E8%87%AA%E9%96%89%E7%97%87%E9%96%A2%E9%80%A3%E9%A0%98%E5%9F%9F%E3%80%8D%E3%81%A8%E3%81%AF%E5%88%A5%E3%81%AE%E9%A0%98%E5%9F%9F\"><\/span><strong>\u300c16p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u81ea\u9589\u75c7\u95a2\u9023\u9818\u57df)\u300d\u3068\u306f\u5225\u306e\u9818\u57df<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u3084\u80a5\u6e80\u3068\u306e\u95a2\u9023\u3067\u5e83\u304f\u77e5\u3089\u308c\u308b\u300c16p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u3001\u5225\u306e\u4f4d\u7f6e\u306b\u3042\u308b\u6b20\u5931\u3082\u5b58\u5728\u3057\u307e\u3059\u3002Battaglia\u3089\u306e\u5831\u544a\u3067\u306f\u3001\u3053\u306e\u8a18\u4e8b\u3067\u6271\u304616p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u9818\u57df\u306f\u3001\u305d\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u95a2\u9023\u9818\u57df\u3088\u308a\u3082\u3055\u3089\u306b\u52d5\u539f\u4f53\u5074(\u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u306b\u8fd1\u3044\u5074)\u306b\u4f4d\u7f6e\u3059\u308b\u3001\u5225\u500b\u306e\u9023\u7d9a\u9818\u57df\u3067\u3042\u308b\u3068\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u30022\u3064\u306e\u9818\u57df\u306f\u305d\u308c\u305e\u308c\u3001\u591a\u767a\u5947\u5f62\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u7279\u5fb4\u3068\u3059\u308b\u75c7\u5019\u7fa4\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u95a2\u9023\u306e\u75c7\u5019\u7fa4\u3068\u3057\u3066\u533a\u5225\u3055\u308c\u307e\u3059\u3002\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u3001\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b63\u78ba\u306a\u67d3\u8272\u4f53\u4f4d\u7f6e\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\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%EF%BD%9C%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%E3%81%A7%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb\uff5c\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3068\u3044\u3046\u3001DNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u306e\u5897\u6e1b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u901a\u5e38\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u691c\u67fb\u3092\u884c\u3046\u6d41\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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%BBCMA\"><\/span><strong>\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>\u901a\u5e38\u306e\u9855\u5fae\u93e1\u691c\u67fb(G\u5206\u67d3\u6cd5)\u3067\u3082\u6bd4\u8f03\u7684\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b63\u78ba\u306a\u7bc4\u56f2\u306e\u7279\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u5fc5\u9808\u3067\u3059\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\u300c16\u756a\u67d3\u8272\u4f53\u306ep12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u306e\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u3068\u3044\u3046\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=\"NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>NIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u3067\u8abf\u3079\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306f\u3001\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u5bfe\u8c61\u3068\u3057\u3066\u304a\u308a\u3001<strong>16p12.2-p11.2\u306e\u3088\u3046\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u4e00\u90e8\u65bd\u8a2d\u3067\u306f\u62e1\u5927\u691c\u67fb\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u9805\u76ee\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u3068\u306a\u308b\u7bc4\u56f2\u306f\u9650\u3089\u308c\u3001\u691c\u51fa\u7387\u306b\u3082\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304c\u3053\u306e\u9818\u57df\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002NIPT\u3067\u8abf\u3079\u3089\u308c\u308b\u9805\u76ee\u306e\u5168\u4f53\u50cf\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u308f\u304b\u308b\u75be\u60a3\u3092\u6574\u7406\u3057\u305f\u8a18\u4e8b<\/a>\u3092\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u4f4d\u7f6e\u3065\u3051\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-202407001\/\">NIPT\u3067\u306e\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u691c\u51fa\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3092\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3059\u3002\u967d\u6027\u306e\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u63a1\u53d6\u3057\u305f\u7d30\u80de\u3092\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u4f4d\u7f6e\u3065\u3051<\/th><th>\u3053\u306e\u6b20\u5931\u3078\u306e\u5bfe\u5fdc<\/th><th>\u4f53\u3078\u306e\u8ca0\u62c5<\/th><\/tr><\/thead><tbody><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)<\/td><td>\u975e\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u57fa\u672c\u5bfe\u8c61\u5916\u3002\u4e00\u90e8\u65bd\u8a2d\u306e\u62e1\u5927\u691c\u67fb\u30aa\u30d7\u30b7\u30e7\u30f3\u3067\u5bfe\u8c61\u30fb\u691c\u51fa\u7387\u306b\u5e45<\/td><td>\u63a1\u8840\u306e\u307f<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\uff0b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u8a73\u3057\u3044\u6b20\u5931\u7bc4\u56f2\u307e\u3067\u78ba\u5b9a\u3067\u304d\u308b<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u7d040.3%\u524d\u5f8c<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\uff0b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u598a\u5a20\u65e9\u671f\u306b\u78ba\u5b9a\u3067\u304d\u308b<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u7d041%\u524d\u5f8c<\/td><\/tr><tr><td>\u51fa\u751f\u5f8c\u306e\u8840\u6db2\u691c\u67fb\uff0b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u751f\u307e\u308c\u305f\u5f8c\u306b\u78ba\u5b9a\u3067\u304d\u308b<\/td><td>\u63a1\u8840\u306e\u307f<\/td><\/tr><\/tbody><\/table><figcaption>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u95a2\u308f\u308b\u691c\u67fb\u306e\u6bd4\u8f03(\u4f4d\u7f6e\u3065\u3051\u3068\u8ca0\u62c5\u306e\u6574\u7406)<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%94%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB%E4%BF%9D%E5%9B%A0%E8%80%85%E8%A8%BA%E6%96%AD%E3%82%92%E8%A1%8C%E3%81%86%E3%81%8B\"><\/span><strong>\u3054\u4e21\u89aa\u306e\u691c\u67fb(\u4fdd\u56e0\u8005\u8a3a\u65ad)\u3092\u884c\u3046\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5f8c\u3001\u3054\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306f\u614e\u91cd\u306b\u6c7a\u3081\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u691c\u67fb\u306e\u76ee\u7684: \u300cde novo\u5909\u7570\u304b\u3001\u305d\u308c\u3068\u3082\u89aa\u306e\u69cb\u9020\u7570\u5e38\u306b\u7531\u6765\u3059\u308b\u306e\u304b\u300d\u300c\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u306f\u3042\u308b\u304b\u300d\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7d50\u679c\u3092\u3069\u3046\u53d7\u3051\u6b62\u3081\u308b\u304b:<br>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u5927\u534a\u306fde novo\u5909\u7570\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u691c\u67fb\u3092\u53d7\u3051\u3066\u3082\u540c\u3058\u6b20\u5931\u304c\u307f\u3064\u304b\u3089\u306a\u3044\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u307e\u308c\u306b\u89aa\u5fa1\u3055\u3093\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u304c\u307f\u3064\u304b\u3063\u305f\u5834\u5408\u3082\u3001\u305d\u308c\u306f\u300c\u8ab0\u306b\u3067\u3082\u3042\u308b\u67d3\u8272\u4f53\u69cb\u9020\u306e\u500b\u6027\u300d\u3067\u3042\u308a\u3001\u81ea\u5206\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<br>\u203b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u3001\u691c\u67fb\u306e\u610f\u5473\u3092\u3088\u304f\u7406\u89e3\u3057\u305f\u4e0a\u3067\u5224\u65ad\u3059\u308b\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n\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%BD%9C%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\uff5c\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\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u751f\u6d3b\u306e\u8cea(QOL)\u3092\u5927\u304d\u304f\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=\"%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>\u65e9\u671f\u7642\u80b2(\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306e\u67d4\u8edf\u6027\u304c\u9ad8\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u95a2\u308f\u308a\u304c\u3001\u304a\u5b50\u69d8\u306e\u53ef\u80fd\u6027\u3092\u5e83\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5(PT):<br>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u3042\u308b\u5834\u5408\u3001\u4f53\u306e\u4f7f\u3044\u65b9\u3084\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5(OT):<br>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u304c\u3042\u308b\u5834\u5408\u3001\u904a\u3073\u3092\u901a\u3058\u3066\u624b\u306e\u52d5\u304d\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5(ST):<br>\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3059\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\u3002\u6442\u98df\u3084\u56a5\u4e0b\u306e\u7df4\u7fd2\u3082\u3042\u308f\u305b\u3066\u884c\u3046\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=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8033\u9f3b\u79d1: \u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3068\u300c\u805e\u3053\u3048\u300d\u306b\u5f71\u97ff\u3057\u3001\u8a00\u8449\u306e\u767a\u9054\u306b\u3082\u95a2\u308f\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6804\u990a\u30fb\u6d88\u5316\u5668: \u54fa\u4e73\u56f0\u96e3\u3084\u80c3\u98df\u9053\u9006\u6d41\u304c\u3042\u308b\u5834\u5408\u3001\u6804\u990a\u58eb\u3084\u5c0f\u5150\u79d1\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u30df\u30eb\u30af\u306e\u7a2e\u985e\u3084\u4e0e\u3048\u65b9\u3092\u8abf\u6574\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5faa\u74b0\u5668: \u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u7d4c\u904e\u3092\u307f\u306a\u304c\u3089\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%99%E8%82%B2%E3%83%BB%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83\"><\/span><strong>\u6559\u80b2\u30fb\u751f\u6d3b\u74b0\u5883<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c31\u5b66\u306b\u5411\u3051\u3066\u306f\u3001\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u6559\u80b2\u59d4\u54e1\u4f1a\u3068\u76f8\u8ac7\u3057\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u74b0\u5883\u3092\u9078\u3073\u307e\u3059\u3002\u77e5\u7684\u306a\u9045\u308c\u306e\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306e\u5229\u7528\u3084\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\u306e\u4f5c\u6210\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\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>16p12.2-p11.2\u6b20\u5931\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\u5f97\u610f\u300d\u3092\u898b\u3064\u3051\u308b:<br>\u8a00\u8449\u306f\u82e6\u624b\u3067\u3082\u3001\u30d1\u30ba\u30eb\u304c\u5f97\u610f\u3001\u97f3\u697d\u304c\u597d\u304d\u3001\u512a\u3057\u3044\u6027\u683c\u306a\u3069\u3001\u305d\u306e\u5b50\u306a\u3089\u3067\u306f\u306e\u5f37\u307f\u304c\u5fc5\u305a\u3042\u308a\u307e\u3059\u3002\u3067\u304d\u306a\u3044\u3053\u3068\u3088\u308a\u3001\u597d\u304d\u306a\u3053\u3068\u3092\u4f38\u3070\u3059\u8996\u70b9\u3092\u5927\u5207\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u652f\u63f4:<br>\u8a00\u8449\u3060\u3051\u306e\u6307\u793a\u304c\u82e6\u624b\u306a\u5834\u5408\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u5199\u771f\u3092\u4f7f\u3046\u3068\u30b9\u30e0\u30fc\u30ba\u306b\u4f1d\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\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\u6628\u65e5\u306e\u3053\u306e\u5b50\u300d\u3068\u6bd4\u3079\u3066\u304f\u3060\u3055\u3044\u3002\u300c\u9774\u4e0b\u304c\u5c65\u3051\u305f\u300d\u300c\u30d0\u30a4\u30d0\u30a4\u304c\u3067\u304d\u305f\u300d\u3002\u305d\u306e\u5c0f\u3055\u306a\u6210\u9577\u3092\u898b\u9003\u3055\u305a\u3001\u305f\u304f\u3055\u3093\u8912\u3081\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3\"><\/span><strong>\u5bb6\u65cf\u306e\u652f\u63f4\u3068\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u7acb\u3057\u306a\u3044\u3088\u3046\u3001\u516c\u7684\u306a\u76f8\u8ac7\u7a93\u53e3\u3084\u4fe1\u983c\u3067\u304d\u308b\u533b\u5b66\u60c5\u5831\u3092\u65e9\u3081\u306b\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5fc3\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u8fd1\u6240\u306b\u540c\u3058\u75c5\u6c17\u306e\u304a\u5b50\u3055\u3093\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u983c\u308c\u308b\u7a93\u53e3\u3092\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u96e3\u75c5\u3084\u5e0c\u5c11\u75be\u60a3\u306e\u60c5\u5831\u3092\u8abf\u3079\u305f\u3044\u3068\u304d\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u767a\u9054\u306e\u652f\u63f4\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc \u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u3001\u76f8\u8ac7\u5148\u3084\u652f\u63f4\u306e\u8003\u3048\u65b9\u3092\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u3092\u5177\u4f53\u7684\u306b\u78ba\u8a8d\u3057\u305f\u3044\u5834\u5408\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a>\u3067\u500b\u5225\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u56fd\u969b\u7684\u306a\u75c7\u4f8b\u5831\u544a\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306e<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/17704777\/\" target=\"_blank\" rel=\"noopener\">Ballif\u3089\u306b\u3088\u308b\u6700\u521d\u306e\u5831\u544a(Nature Genetics, 2007\u5e74)<\/a>\u3068\u3001<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/19449418\/\" target=\"_blank\" rel=\"noopener\">Battaglia\u3089\u306b\u3088\u308b\u8ffd\u52a0\u5831\u544a(2009\u5e74)<\/a>\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u75be\u60a3\u306e\u6982\u8981\u306f<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17243\/chromosome-16p122-p112-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD(\u7c73\u56fd\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc)<\/a>\u3084<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462208\" target=\"_blank\" rel=\"noopener\">NCBI MedGen<\/a>\u3067\u3082\u516c\u958b\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u306e\u8a18\u8f09\u306f\u3001\u3053\u308c\u3089\u306e\u5b66\u8853\u30fb\u516c\u7684\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u300116p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3001\u56fd\u5185\u3067\u306e\u5b9f\u4f53\u9a13\u306b\u57fa\u3065\u304f\u6295\u7a3f\u3092X(\u65e7Twitter)\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd11\u9031\u9593\u306e\u691c\u7d22\u3067\u306f\u8a72\u5f53\u3059\u308b\u6295\u7a3f\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001\u4e0a\u8a18\u306eGeneReviews\u95a2\u9023\u8ad6\u6587\u30fbGARD\u30fbNCBI MedGen\u306a\u3069\u3001\u56fd\u5185\u5916\u306e\u5b66\u8853\u30fb\u516c\u7684\u60c5\u5831\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-microdeletion-intellectual-disability\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u67d3\u8272\u4f53\u306e\u5c0f\u3055\u306a\u7570\u5e38\u304c\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3063\u3066\u77e5\u3063\u3066\u307e\u3059\u304b\uff1f <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u306b\u3088\u308b\u77e5\u7684\u969c\u5bb3\u30ea\u30b9\u30af\u3082\u628a\u63e1\u53ef\u80fd\u3002\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u306e\u65e9\u671f\u767a\u898b\u3067\u51fa\u7523\u6e96\u5099\u3068\u533b\u7642\u652f\u63f4\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\r\n...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u51fa\u751f\u524d\u8a3a\u65ad\u30fb\u907a\u4f1d\u76f8\u8ac7\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\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%8FFAQ\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f(FAQ)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_16p122-p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. 16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306ep12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u3001\u304a\u3088\u305d7.1\u301c8.7Mb\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u307e\u308c\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u54fa\u4e73\u56f0\u96e3\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u30022007\u5e74\u306bBallif\u3089\u304c\u521d\u3081\u3066\u5831\u544a\u3057\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%80%8C16p122%E6%AC%A0%E5%A4%B1%E8%BF%91%E4%BD%8D%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. \u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u5225\u306e\u75c5\u614b\u3067\u3059\u300216p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u306f16p12.2\u9818\u57df\u306e\u307f\u3001\u7d04520kb\u306e\u6b20\u5931\u3067\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u3001\u672c\u8a18\u4e8b\u3067\u6271\u304616p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306fp12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u306e\u3001\u3088\u308a\u5e83\u3044\u9023\u7d9a\u9818\u57df\u306e\u6b20\u5931\u3067\u3001\u5927\u534a\u304cde novo(\u7a81\u7136)\u5909\u7570\u3067\u3059\u3002\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b20\u5931\u7bc4\u56f2\u3067\u5224\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%80%8C16p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E8%87%AA%E9%96%89%E7%97%87%E9%96%A2%E9%80%A3%E3%80%8D%E3%81%A8%E3%82%82%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. \u300c16p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u81ea\u9589\u75c7\u95a2\u9023)\u300d\u3068\u3082\u9055\u3044\u307e\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u5225\u306e\u9818\u57df\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u3084\u80a5\u6e80\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b16p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u672c\u8a18\u4e8b\u306e16p12.2-p11.2\u9818\u57df\u3088\u308a\u3082\u52d5\u539f\u4f53\u304b\u3089\u3084\u3084\u96e2\u308c\u305f\u3001\u5225\u306e\u4f4d\u7f6e\u306b\u3042\u308a\u307e\u3059\u3002\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b63\u78ba\u306a\u67d3\u8272\u4f53\u4f4d\u7f6e\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E9%81%8E%E3%81%94%E3%81%97%E6%96%B9%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. \u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306e\u5927\u534a\u306fde novo(\u7a81\u7136)\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3084\u751f\u6d3b\u7fd2\u6163\u3068\u306f\u95a2\u4fc2\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u304f\u4e00\u90e8\u306f\u89aa\u5fa1\u3055\u3093\u306e\u5747\u8861\u578b\u69cb\u9020\u7570\u5e38\u306b\u7531\u6765\u3057\u307e\u3059\u304c\u3001\u3053\u308c\u3082\u89aa\u5fa1\u3055\u3093\u306e\u8cac\u4efb\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u305d\u306e\u3082\u306e\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. \u6b21\u306e\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u3088\u308a\u307e\u3059\u3002\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u554f\u984c\u304c\u306a\u3051\u308c\u3070(de novo\u5909\u7570\u3067\u3042\u308c\u3070)\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3064\u78ba\u7387\u306f\u4e00\u822c\u7684\u306a\u78ba\u7387\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\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\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_NIPT%E3%81%A7%E3%81%93%E3%81%AE%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. NIPT\u3067\u3053\u306e\u5fae\u5c0f\u6b20\u5931\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u90e8\u306e\u30d7\u30e9\u30f3\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u5bfe\u8c61\u3068\u3059\u308b\u30aa\u30d7\u30b7\u30e7\u30f3\u691c\u67fb\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u691c\u8a0e\u4e2d\u306e\u691c\u67fb\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. \u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5408\u4f75\u75c7\u3092\u4f34\u308f\u306a\u3051\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c(\u5bff\u547d)\u306f\u826f\u597d\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5831\u544a\u4f8b\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u7d4c\u904e\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u70b9\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\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><strong>16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u300116\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306ep12.2\u304b\u3089p11.2\u306b\u304b\u3051\u3066\u7d047.1\u301c8.7Mb\u304c\u5931\u308f\u308c\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u54fa\u4e73\u56f0\u96e3\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u306a\u3069\u3067\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306f\u3001\u5831\u544a\u4f8b\u306e\u5927\u534a\u304c\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u307f\u3089\u308c\u306a\u3044de novo(\u7a81\u7136)\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3088\u304f\u4f3c\u305f\u300c16p12.2\u6b20\u5931(\u8fd1\u4f4d)\u75c7\u5019\u7fa4\u300d\u3068\u306f\u3001\u6b20\u5931\u7bc4\u56f2\u30fb\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308b<strong>\u5225\u306e\u75c5\u614b<\/strong>\u3067\u3059\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>\u67d3\u8272\u4f53\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3001NIPT\u306e\u57fa\u672c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u7642\u80b2(\u7279\u306bST\u30fbOT\u30fbPT)\u3084\u5408\u4f75\u75c7\u7ba1\u7406\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\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u3068\u3044\u3046\u8a00\u8449\u306e\u91cd\u307f\u306b\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306b\u306a\u3063\u3066\u3044\u308b\u3054\u5bb6\u65cf\u3082\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u598a\u5a20\u4e2d\u306b\u4f55\u304b\u3044\u3051\u306a\u3044\u3053\u3068\u3092\u3057\u3066\u3057\u307e\u3063\u305f\u306e\u3067\u306f\u300d\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u65b9\u3082\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3069\u3046\u304b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u4eca\u56de\u306e\u3088\u3046\u306a\u5e83\u3044\u7bc4\u56f2\u306e\u6b20\u5931\u306f\u3001\u305d\u306e\u307b\u3068\u3093\u3069\u304c\u5076\u767a\u7684\u306b\u751f\u3058\u308bde 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{\"@type\":\"Question\",\"name\":\"NIPT\u3067\u3053\u306e\u5fae\u5c0f\u6b20\u5931\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"21\u30fb18\u30fb13\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u90e8\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u3092\u5bfe\u8c61\u3068\u3059\u308b\u30aa\u30d7\u30b7\u30e7\u30f3\u691c\u67fb\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u691c\u8a0e\u4e2d\u306e\u691c\u67fb\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5408\u4f75\u75c7\u3092\u4f34\u308f\u306a\u3051\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c(\u5bff\u547d)\u306f\u826f\u597d\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5831\u544a\u4f8b\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u7d4c\u904e\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u70b9\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002\"}}\n  ]\n}\n<\/script>\n\n\n\n<p style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831:<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/17704777\/\" target=\"_blank\" rel=\"noopener\">Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2(Ballif BC, et al. Nat Genet. 2007)<\/a>\uff0f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/19449418\/\" target=\"_blank\" rel=\"noopener\">Further characterization of the new microdeletion syndrome of 16p11.2-p12.2(Battaglia A, et al. 2009)<\/a>\uff0f<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17243\/chromosome-16p122-p112-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">Chromosome 16p12.2-p11.2 deletion syndrome\uff5cGARD(\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 \u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc)<\/a>\uff0f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462208\" target=\"_blank\" rel=\"noopener\">Chromosome 16p12.2-p11.2 deletion syndrome\uff5cNCBI MedGen(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)<\/a>\uff0f<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u8cc7\u683c\u8a8d\u5b9a(\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc)\uff5c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a<\/a><\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n","protected":false},"excerpt":{"rendered":"16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u5e83\u3044\u7bc4\u56f2(\u7d047.1\u301c8.7Mb)\u304c\u5931\u308f\u308c\u308b\u307e\u308c\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3092\u533b\u5e2b\u76e3\u4fee\u3067\u89e3\u8aac\u3057\u307e\u3059\u3002","protected":false},"author":122,"featured_media":119919,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121870","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\/121870","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=121870"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121870\/revisions"}],"predecessor-version":[{"id":134286,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121870\/revisions\/134286"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119919"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121870"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121870"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121870"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}