{"id":121830,"date":"2026-01-07T17:38:03","date_gmt":"2026-01-07T08:38:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121830"},"modified":"2026-01-07T17:40:58","modified_gmt":"2026-01-07T08:40:58","slug":"chromosome-15q14-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/","title":{"rendered":"15q14\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c15\u756a\u67d3\u8272\u4f53q14\u6b20\u5931\uff08Chromosome 15q14 deletion\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u3042\u308b\u3044\u306f\u533b\u5e2b\u304b\u3089\u300c\u67d3\u8272\u4f53\u306e15\u756a\u306b\u5c11\u3057\u8db3\u308a\u306a\u3044\u90e8\u5206\u304c\u3042\u308b\u300d\u3068\u544a\u3052\u3089\u308c\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u5927\u304d\u306a\u885d\u6483\u3068\u4e0d\u5b89\u306b\u5305\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c15\u756a\u67d3\u8272\u4f53\u300d\u3068\u3044\u3046\u3068\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3084\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff0815q11-q13\uff09\u304c\u6709\u540d\u3067\u3059\u304c\u3001\u300cq14\u300d\u3068\u3044\u3046\u5834\u6240\u306e\u6b20\u5931\u306f\u975e\u5e38\u306b\u73cd\u3057\u304f\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u306f\u307b\u3068\u3093\u3069\u898b\u3064\u304b\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u60c5\u5831\u304c\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u305d\u308c\u3060\u3051\u3067\u300c\u672a\u77e5\u306e\u6050\u6016\u300d\u3092\u611f\u3058\u3055\u305b\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u533b\u5b66\u7684\u306a\u77e5\u8b58\u304c\u306a\u3044\u65b9\u3067\u3082\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u3001\u3053\u306e\u5e0c\u5c11\u306a\u75be\u60a3\u306e\u6b63\u4f53\u3001\u4e88\u60f3\u3055\u308c\u308b\u75c7\u72b6\u3001\u305d\u3057\u3066\u3053\u308c\u304b\u3089\u306e\u751f\u6d3b\u3067\u5927\u5207\u306b\u3057\u3066\u307b\u3057\u3044\u3053\u3068\u3092\u30014000\u5b57\u4ee5\u4e0a\u306e\u30dc\u30ea\u30e5\u30fc\u30e0\u3067\u4e01\u5be7\u306b\u89e3\u8aac\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u307e\u305a\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u300c\u4f53\u306e\u8a2d\u8a08\u56f3\u300d\u306b\u304a\u3044\u3066\u3069\u306e\u3088\u3046\u306a\u72b6\u614b\u306a\u306e\u304b\u3092\u77e5\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u307e\u3057\u3087\u3046\u3002<\/p>\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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>\u4e3b\u306a\u75c7\u72b6<\/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-15q14-deletion-syndrome-guide\/#1_%E9%A1%94%E9%9D%A2%E3%83%BB%E5%8F%A3%E8%85%94%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E5%8F%A3%E8%93%8B%E8%A3%82%E3%81%AA%E3%81%A9%EF%BC%89\" >1. \u9854\u9762\u30fb\u53e3\u8154\u306e\u7279\u5fb4\uff08\u53e3\u84cb\u88c2\u306a\u3069\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-15q14-deletion-syndrome-guide\/#2_%E5%85%88%E5%A4%A9%E6%80%A7%E5%BF%83%E7%96%BE%E6%82%A3\" >2. \u5148\u5929\u6027\u5fc3\u75be\u60a3<\/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-15q14-deletion-syndrome-guide\/#3_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD\" >3. \u767a\u9054\u3068\u77e5\u80fd<\/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-15q14-deletion-syndrome-guide\/#4_%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B%EF%BC%88%E3%83%8F%E3%82%A4%E3%83%9D%E3%83%88%E3%83%8B%E3%82%A2%EF%BC%89\" >4. \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/#5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >5. \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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/#2_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\" >2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/#3_%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\" >3. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/#2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >2. \u753b\u50cf\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/#3_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB%E3%83%BB%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\" >3. \u8074\u899a\u691c\u67fb\u30fb\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/#1_%E5%A4%96%E7%A7%91%E7%9A%84%E6%B2%BB%E7%99%82%EF%BC%88%E6%89%8B%E8%A1%93%E3%81%AA%E3%81%A9%EF%BC%89\" >1. \u5916\u79d1\u7684\u6cbb\u7642\uff08\u624b\u8853\u306a\u3069\uff09<\/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-15q14-deletion-syndrome-guide\/#2_%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\" >2. \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-15q14-deletion-syndrome-guide\/#3_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2\" >3. \u65e5\u5e38\u751f\u6d3b\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-15q14-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%E3%81%A8%E5%BF%83%E6%A7%8B%E3%81%88\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u5fc3\u69cb\u3048<\/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-15q14-deletion-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-15q14-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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/#%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%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\uff1a\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=\"%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>15q14\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u300c15\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<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 15\uff0815\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\u306415\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>q\uff08\u9577\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>14\uff08\u9818\u57df\uff09:<\/strong> \u9577\u8155\u306e\u4e2d\u306e\u300c\u30d0\u30f3\u30c9\u300d\u3068\u547c\u3070\u308c\u308b\u533a\u753b\u306e14\u756a\u5730\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3053\u306e\u5834\u6240\u306f\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u306a\u3069\u306e\u539f\u56e0\u3068\u306a\u308b\u9818\u57df\uff08q11-q13\uff09\u3088\u308a\u3082\u3001\u5c11\u3057\u5148\uff08\u672b\u7aef\u5074\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u3044\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\u591a\u304f\u306e\u5834\u5408\u3001\u9855\u5fae\u93e1\u3067\u306f\u898b\u3048\u306a\u3044\u30ec\u30d9\u30eb\u306e\u5c0f\u3055\u306a\u6b20\u5931\uff08\u5fae\u7d30\u6b20\u5931\uff09\u3067\u3042\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=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E9%87%8D%E8%A6%81%E3%81%AA%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E3%81%AA%E3%81%84%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u91cd\u8981\u306a\u30da\u30fc\u30b8\u304c\u306a\u3044\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\u7b2c15\u5dfb\u306e14\u7ae0\u306e\u30da\u30fc\u30b8\u304c\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\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\u306b\u306f\u3001\u4f53\u306e\u5f62\u6210\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u308b\u306e\u304cMEIS2\uff08\u30e1\u30a4\u30b9\u30fb\u30c4\u30fc\uff09\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>MEIS2\u907a\u4f1d\u5b50\u306f\u3001\u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u3067\u80ce\u5150\u304c\u80b2\u3064\u969b\u3001\u9854\uff08\u7279\u306b\u53e3\u84cb\uff09\u3001\u5fc3\u81d3\u3001\u8133\u3092\u4f5c\u308b\u305f\u3081\u306e\u6307\u4ee4\u3092\u51fa\u3059\u300c\u73fe\u5834\u76e3\u7763\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u76e3\u7763\u304c\u3044\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u4f53\u306e\u5f62\u3084\u767a\u9054\u306b\u7279\u5fb4\u304c\u73fe\u308c\u307e\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\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>15q14\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u3001MEIS2\u4ee5\u5916\u306e\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u304b\u3089\u3001\u6bd4\u8f03\u7684\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u7279\u5fb4\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%A1%94%E9%9D%A2%E3%83%BB%E5%8F%A3%E8%85%94%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E5%8F%A3%E8%93%8B%E8%A3%82%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>1. \u9854\u9762\u30fb\u53e3\u8154\u306e\u7279\u5fb4\uff08\u53e3\u84cb\u88c2\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u3067\u7279\u306b\u3088\u304f\u898b\u3089\u308c\u308b\u8eab\u4f53\u7684\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u84cb\u88c2\uff08\u3053\u3046\u304c\u3044\u308c\u3064\uff09:<\/strong> \u53e3\u306e\u4e2d\u306e\u5929\u4e95\u90e8\u5206\uff08\u53e3\u84cb\uff09\u304c\u5272\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3042\u308b\u3044\u306f\u3001\u7c98\u819c\u306e\u4e0b\u3060\u3051\u304c\u5272\u308c\u3066\u3044\u308b\u300c\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u300d\u3084\u3001\u53e3\u84cb\u304c\u9ad8\u3044\u30a2\u30fc\u30c1\u72b6\u306b\u306a\u3063\u3066\u3044\u308b\uff08\u9ad8\u53e3\u84cb\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u3067\u3053\u304c\u5e83\u3044<\/li>\n\n\n\n<li>\u9f3b\u306e\u4ed8\u3051\u6839\uff08\u9f3b\u6839\uff09\u304c\u5e73\u5766\u3067\u5e83\u3044<\/li>\n\n\n\n<li>\u4e0a\u5507\u304c\u8584\u3044<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u307e\u305f\u306f\u5f8c\u308d\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b<\/li>\n\n\n\n<li>\u7709\u6bdb\u306e\u5f62\u304c\u7279\u5fb4\u7684<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\u304f\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%85%88%E5%A4%A9%E6%80%A7%E5%BF%83%E7%96%BE%E6%82%A3\"><\/span><strong>2. \u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u81d3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u305f\u3081\u3001\u751f\u307e\u308c\u3064\u304d\u5fc3\u81d3\u306b\u4f55\u3089\u304b\u306e\u554f\u984c\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09:<\/strong> \u5fc3\u81d3\u306e\u90e8\u5c4b\u3092\u9694\u3066\u308b\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09:<\/strong> \u5fc3\u623f\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09:<\/strong> \u751f\u5f8c\u9589\u3058\u308b\u306f\u305a\u306e\u8840\u7ba1\u304c\u9589\u3058\u306a\u3044\u3002<\/li>\n\n\n\n<li>\u5927\u52d5\u8108\u306e\u7570\u5e38\u306a\u3069\u3002<br>\u203b\u591a\u304f\u306e\u5834\u5408\u3001\u624b\u8853\u3084\u7d4c\u904e\u89b3\u5bdf\u3067\u7ba1\u7406\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD\"><\/span><strong>3. \u767a\u9054\u3068\u77e5\u80fd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u4f34\u3044\u3001\u767a\u9054\u9762\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\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\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u3001\u4e00\u822c\u7684\u306a\u5e73\u5747\u3088\u308a\u3086\u3063\u304f\u308a\u30da\u30fc\u30b9\u3067\u9032\u307f\u307e\u3059\u3002\u6b69\u304d\u59cb\u3081\u304c2\u6b73\u301c3\u6b73\u9803\u306b\u306a\u308b\u304a\u5b50\u69d8\u3082\u3044\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\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u6301\u3064\u30b1\u30fc\u30b9\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c:<br>\u767a\u8a9e\uff08\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\uff09\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u8a00\u8449\u306e\u7406\u89e3\u529b\u306b\u6bd4\u3079\u3066\u3001\u8a71\u3059\u529b\u304c\u5f31\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u53d6\u308b\u3053\u3068\u306f\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B%EF%BC%88%E3%83%8F%E3%82%A4%E3%83%9D%E3%83%88%E3%83%8B%E3%82%A2%EF%BC%89\"><\/span><strong>4. \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306b\u3088\u304f\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u304c\u67d4\u3089\u304b\u3044:<\/strong> \u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u3044\u308b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3002<\/li>\n\n\n\n<li><strong>\u54fa\u4e73\u969c\u5bb3:<\/strong> \u304a\u3063\u3071\u3044\u3092\u5438\u3046\u529b\u304c\u5f31\u304f\u3001\u6388\u4e73\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u3080\u305b\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u53e3\u84cb\u88c2\u304c\u3042\u308b\u5834\u5408\u306f\u3055\u3089\u306b\u98f2\u307f\u306b\u304f\u304f\u306a\u308b\u305f\u3081\u3001\u5de5\u592b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>5. \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>\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>\u4f4e\u8eab\u9577:<\/strong> \u6210\u9577\u304c\u7de9\u3084\u304b\u3067\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u306e\u7570\u5e38:<\/strong> \u5074\u5f2f\uff08\u80cc\u9aa8\u304c\u66f2\u304c\u308b\uff09\u3084\u3001\u6307\u306e\u5f62\u306e\u7279\u5fb4\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u30ab\u30d5\u30a7\u30aa\u30ec\u6591:<\/strong> \u76ae\u819a\u306b\u30ab\u30d5\u30a7\u30aa\u30ec\u8272\u306e\u3042\u3056\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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\u6700\u3082\u5fc3\u3092\u75db\u3081\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\u305b\u3044\u3067\u8d77\u304d\u305f\u308f\u3051\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>15q14\u6b20\u5931\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>\u3053\u308c\u306f\u3001\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\u30b3\u30d4\u30fc\u3055\u308c\u305a\u306b\u5931\u308f\u308c\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3001\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u4ed5\u4e8b\u3001\u751f\u6d3b\u74b0\u5883\u306a\u3069\u306f\u4e00\u5207\u95a2\u4fc2\u3042\u308a\u307e\u305b\u3093\u3002\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\u65b9\u6cd5\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\"><\/span><strong>2. \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<p>\u7279\u306bMEIS2\u907a\u4f1d\u5b50\u306f\u3001\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3001\u5fc3\u81d3\u3084\u9854\u306e\u5f62\u6210\u306b\u5341\u5206\u306a\u6307\u4ee4\u304c\u51fa\u305b\u306a\u304f\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%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>3. \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\u306a\u3069\u306e\u67d3\u8272\u4f53\u306e\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3054\u672c\u4eba\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u4e0d\u5747\u8861\uff08\u6b20\u5931\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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<\/p>\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\u53e3\u84cb\u88c2\u3084\u5fc3\u75be\u60a3\uff09\u3084\u767a\u9054\u306e\u9045\u308c\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\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\u300115q14\u306e\u3088\u3046\u306a\u300c\u5fae\u7d30\u6b20\u5931\u300d\u306f\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3046\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\u306f\u3001DNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u306e\u91cf\u3092\u8abf\u3079\u308b\u305f\u3081\u3001\u300c15\u756a\u67d3\u8272\u4f53\u306e14\u756a\u30d0\u30f3\u30c9\u306e\u3001\u3053\u3053\u304b\u3089\u3053\u3053\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001MEIS2\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3082\u78ba\u8a8d\u3067\u304d\u307e\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\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u691c\u67fb:<\/strong> \u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u691c\u67fb:<\/strong> \u8133\u306e\u69cb\u9020\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\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_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB%E3%83%BB%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u8074\u899a\u691c\u67fb\u30fb\u773c\u79d1\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u308a\u306b\u304f\u3044\u8074\u529b\u3084\u8996\u529b\u306e\u554f\u984c\u3092\u65e9\u671f\u306b\u898b\u3064\u3051\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002\u7279\u306b\u53e3\u84cb\u88c2\u304c\u3042\u308b\u5834\u5408\u3001\u6ef2\u51fa\u6027\u4e2d\u8033\u708e\u306b\u306a\u308a\u3084\u3059\u304f\u3001\u96e3\u8074\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\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%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>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u90e8\u5206\u3092\u5fa9\u5143\u3059\u308b\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u9069\u5207\u306a\u533b\u7642\u7684\u4ecb\u5165\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u7642\u80b2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\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=\"1_%E5%A4%96%E7%A7%91%E7%9A%84%E6%B2%BB%E7%99%82%EF%BC%88%E6%89%8B%E8%A1%93%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>1. \u5916\u79d1\u7684\u6cbb\u7642\uff08\u624b\u8853\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f53\u306e\u69cb\u9020\u7684\u306a\u554f\u984c\u306b\u5bfe\u3057\u3066\u306f\u3001\u624b\u8853\u304c\u975e\u5e38\u306b\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u84cb\u88c2\u306e\u624b\u8853:<\/strong> \u5f62\u6210\u5916\u79d1\u533b\u3068\u8a00\u8a9e\u8074\u899a\u58eb\u304c\u9023\u643a\u3057\u30011\u6b73\u301c1\u6b73\u534a\u9803\u306b\u53e3\u84cb\u3092\u9589\u3058\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8a00\u8449\u306e\u767a\u97f3\u3084\u98df\u4e8b\u304c\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3\u306e\u624b\u8853:<\/strong> \u5fc3\u81d3\u306e\u7a74\u304c\u5927\u304d\u3044\u5834\u5408\u306a\u3069\u306f\u3001\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u3067\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%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>2. \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\u304c\u8457\u3057\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u95a2\u308f\u308a\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\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\u306b\u5bfe\u3057\u3066\u3001\u4f53\u306e\u4e2d\u5fc3\uff08\u4f53\u5e79\uff09\u3092\u935b\u3048\u3001\u5bdd\u8fd4\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5 (OT):<br>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u304a\u3082\u3061\u3083\u3067\u904a\u3076\u3001\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3064\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<br>\u3053\u3053\u304c\u7279\u306b\u91cd\u8981\u3067\u3059\u3002 \u53e3\u84cb\u88c2\u304c\u3042\u308b\u5834\u5408\u3084\u8a00\u8449\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u767a\u97f3\u306e\u7df4\u7fd2\u3084\u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3059\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u98f2\u307f\u8fbc\u307f\uff08\u56a5\u4e0b\uff09\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u306e\u98df\u4e8b\u6307\u5c0e\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>3. \u65e5\u5e38\u751f\u6d3b\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u30fb\u98df\u4e8b\u306e\u5de5\u592b:<br>\u53e3\u84cb\u88c2\u7528\u306e\u4e73\u9996\uff08P\u578b\u4e73\u9996\u306a\u3069\uff09\u3092\u4f7f\u7528\u3057\u305f\u308a\u3001\u3068\u308d\u307f\u3092\u3064\u3051\u3066\u98f2\u307f\u8fbc\u307f\u3084\u3059\u304f\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e2d\u8033\u708e\u306e\u7ba1\u7406:<br>\u8033\u9f3b\u79d1\u3067\u5b9a\u671f\u7684\u306b\u8033\u306e\u72b6\u614b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u4e2d\u8033\u708e\u3092\u6cbb\u7642\u3059\u308b\u3053\u3068\u3067\u3001\u8a00\u8449\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u300c\u8074\u304f\u529b\u300d\u3092\u5b88\u308a\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%E3%81%A8%E5%BF%83%E6%A7%8B%E3%81%88\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u5fc3\u69cb\u3048<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3542764_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121583\"\/><\/figure><\/div>\n\n\n<p>15q14\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\u98df\u3079\u308b\u300d\u3092\u697d\u3057\u3081\u308b\u3088\u3046\u306b:<br>\u53e3\u84cb\u88c2\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u3042\u308b\u3068\u3001\u98df\u4e8b\u306b\u6642\u9593\u304c\u304b\u304b\u308a\u3001\u89aa\u5fa1\u3055\u3093\u3082\u7126\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4f53\u91cd\u306e\u5897\u3048\u304c\u60aa\u304f\u306a\u3051\u308c\u3070\u3001\u300c\u697d\u3057\u304f\u98df\u3079\u308b\u3053\u3068\u300d\u3092\u512a\u5148\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56:<br>\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306a\u3069\u306f\u3001\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u6d17\u3044\u3084\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\uff08RS\u30a6\u30a4\u30eb\u30b9\u306e\u4e88\u9632\u63a5\u7a2e\u30b7\u30ca\u30b8\u30b9\u306a\u3069\u3001\u9069\u5fdc\u304c\u3042\u308b\u5834\u5408\uff09\u3092\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7:<br>\u6bcd\u5b50\u624b\u5e33\u306e\u300c\u306f\u3044\u30fb\u3044\u3044\u3048\u300d\u306b\u3053\u3060\u308f\u3089\u305a\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u904e\u53bb\u3068\u73fe\u5728\u3092\u6bd4\u3079\u3066\u304f\u3060\u3055\u3044\u3002\u300c\u6628\u65e5\u3088\u308a\u30b9\u30d7\u30fc\u30f3\u304c\u4e0a\u624b\u306b\u6301\u3066\u305f\u300d\u300c\u76ee\u304c\u5408\u3063\u3066\u7b11\u3063\u305f\u300d\u3002\u305d\u306e\u5c0f\u3055\u306a\u5909\u5316\u3053\u305d\u304c\u3001\u78ba\u5b9f\u306a\u6210\u9577\u306e\u8a3c\u3067\u3059\u3002<\/li>\n<\/ul>\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. \u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u304c\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3055\u308c\u3066\u3044\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c\uff08\u5bff\u547d\uff09\u306f\u826f\u597d\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\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\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u7ba1\u7406\u306f\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>Q. 15q11-q13\u6b20\u5931\uff08\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\/\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\uff09\u3068\u540c\u3058\u3067\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u3044\u3044\u3048\u3001\u7570\u306a\u308a\u307e\u3059\u3002\u5834\u6240\u304c\u8fd1\u304f\u3067\u3059\u304c\u3001\u5c11\u3057\u96e2\u308c\u3066\u3044\u307e\u3059\uff08q14\uff09\u3002\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u3082\u7570\u306a\u308a\u307e\u3059\u3002\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u904e\u98df\u3084\u80a5\u6e80\u306e\u7279\u5fb4\u306f\u300115q14\u6b20\u5931\u3067\u306f\u4e00\u822c\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\uff081%\u4ee5\u4e0b\uff09\u3002\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u304c\u307b\u3068\u3093\u3069\u3060\u304b\u3089\u3067\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><strong>15q14\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u300115\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306e\u6b20\u5931\u306b\u3088\u308a\u3001MEIS2\u907a\u4f1d\u5b50\u306a\u3069\u306e\u6a5f\u80fd\u304c\u4e0d\u8db3\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u3001\u53e3\u84cb\u88c2\u3001\u5fc3\u75be\u60a3\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\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>\u67d3\u8272\u4f53\u691c\u67fb\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u53e3\u84cb\u88c2\u3084\u5fc3\u81d3\u306e\u624b\u8853\u3001\u305d\u3057\u3066\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u7279\u306bST\u3001PT\uff09\u304c\u91cd\u8981\u3067\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\u624b\u8853\u304c\u5fc5\u8981\u304b\u3082\u3057\u308c\u306a\u3044\u300d\u300c\u767a\u9054\u304c\u9045\u308c\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u300d\u3068\u3044\u3046\u4e8b\u5b9f\u306b\u4e0d\u5b89\u3067\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u53e3\u84cb\u88c2\u3084\u5fc3\u75be\u60a3\u306e\u624b\u8853\u306f\u3001\u5c0f\u3055\u306a\u304a\u5b50\u69d8\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u8a66\u7df4\u306b\u898b\u3048\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u73fe\u4ee3\u306e\u533b\u7642\u6280\u8853\u306f\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u306e\u624b\u8853\u3082\u53e3\u84cb\u88c2\u306e\u624b\u8853\u3082\u3001\u591a\u304f\u306e\u7d4c\u9a13\u8c4a\u5bcc\u306a\u533b\u5e2b\u305f\u3061\u304c\u652f\u3048\u3066\u304f\u308c\u307e\u3059\u3002\u305d\u3057\u3066\u3001\u624b\u8853\u3092\u4e57\u308a\u8d8a\u3048\u305f\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u9a5a\u304f\u307b\u3069\u306e\u751f\u547d\u529b\u3067\u56de\u5fa9\u3057\u3001\u7b11\u9854\u3092\u898b\u305b\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u53ef\u80fd\u6027\u3092\u4fe1\u3058\u3066<\/p>\n\n\n\n<p>15q14\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u78ba\u5b9f\u306b\u3067\u304d\u308b\u3053\u3068\u3092\u5897\u3084\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u61d0\u3063\u3053\u3044\u7b11\u9854\u3092\u898b\u305b\u3001\u5bb6\u65cf\u3092\u611b\u3057\u3001\u597d\u304d\u306a\u904a\u3073\u306b\u5922\u4e2d\u306b\u306a\u308b\u3002\u305d\u3093\u306a\u300c\u5b50\u3069\u3082\u3068\u3057\u3066\u306e\u5f53\u305f\u308a\u524d\u306e\u6642\u9593\u300d\u306f\u3001\u75c5\u540d\u306b\u3088\u3063\u3066\u596a\u308f\u308c\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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\u540c\u3058\u75c5\u6c17\u306e\u4eba\u306b\u51fa\u4f1a\u3046\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u3084\u300c\u53e3\u84cb\u88c2\u300d\u300c\u5fc3\u75be\u60a3\u300d\u3068\u3044\u3063\u305f\u5171\u901a\u70b9\u3092\u6301\u3064\u89aa\u306e\u4f1a\u3084\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u306f\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u30c1\u30fc\u30e0\u304c\u3044\u307e\u3059\u3002\u300c\u4e0d\u5b89\u3060\u300d\u300c\u3069\u3046\u3057\u305f\u3089\u3044\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u58f0\u3092\u4e0a\u3052\u308b\u3053\u3068\u306f\u3001\u5f31\u3055\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u5b50\u69d8\u3092\u5b88\u308b\u305f\u3081\u306e\u3001\u5927\u5207\u306a\u4e00\u6b69\u3067\u3059\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<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%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\"><\/span><strong>\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3092\u8aad\u3093\u3060\u5f8c\u3001\u4e3b\u6cbb\u533b\u306b\u78ba\u8a8d\u3059\u308b\u3068\u826f\u3044\u5177\u4f53\u7684\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u300c\u6b20\u5931\u7bc4\u56f2\u300d\u306e\u8a73\u7d30:<br>\u300cMEIS2\u907a\u4f1d\u5b50\u306f\u6b20\u5931\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304b\uff1f\u300d\u3068\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u5408\u4f75\u75c7\u306e\u30c1\u30a7\u30c3\u30af:<br>\u300c\u5fc3\u81d3\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3084\u3001\u8033\u9f3b\u79d1\u3067\u306e\u8074\u529b\u30fb\u4e2d\u8033\u708e\u306e\u30c1\u30a7\u30c3\u30af\u306f\u6e08\u3093\u3067\u3044\u307e\u3059\u304b\uff1f\u300d\u3068\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u7642\u80b2\u306e\u958b\u59cb:<br>\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u798f\u7949\u7a93\u53e3\u3067\u3001\u65e9\u671f\u7642\u80b2\uff08\u5150\u7ae5\u767a\u9054\u652f\u63f4\uff09\u3092\u53d7\u3051\u308b\u305f\u3081\u306e\u624b\u7d9a\u304d\u3084\u3001\u5229\u7528\u3067\u304d\u308b\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306b\u3064\u3044\u3066\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c15\u756a\u67d3\u8272\u4f53q14\u6b20\u5931\uff08Chr&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":151,"featured_media":119766,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121830","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\/121830","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\/151"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121830"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121830\/revisions"}],"predecessor-version":[{"id":121843,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121830\/revisions\/121843"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119766"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121830"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121830"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121830"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}