{"id":121847,"date":"2026-01-07T17:44:29","date_gmt":"2026-01-07T08:44:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121847"},"modified":"2026-01-07T17:44:31","modified_gmt":"2026-01-07T08:44:31","slug":"proximal-chromosome-14q-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-deletion-syndrome-guide\/","title":{"rendered":"14q\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c14\u756a\u67d3\u8272\u4f53\u9577\u8155\u8fd1\u4f4d\u6b20\u5931\uff08Proximal chromosome 14q deletion\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u533b\u5b66\u7528\u8a9e\u306e\u7f85\u5217\u306b\u3001\u8a00\u3044\u3088\u3046\u306e\u306a\u3044\u4e0d\u5b89\u3068\u6238\u60d1\u3044\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u300c14\u756a\uff1f\u300d\u300c\u8fd1\u4f4d\uff08\u304d\u3093\u3044\uff09\u3063\u3066\u3069\u3053\uff1f\u300d\u300c\u3053\u308c\u304b\u3089\u3069\u3046\u80b2\u3063\u3066\u3044\u304f\u306e\uff1f\u300d<\/p>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u5c02\u9580\u7684\u306a\u82f1\u8a9e\u306e\u8ad6\u6587\u3070\u304b\u308a\u3067\u3001\u65e5\u672c\u8a9e\u306e\u5206\u304b\u308a\u3084\u3059\u3044\u60c5\u5831\u306f\u975e\u5e38\u306b\u5c11\u306a\u3044\u306e\u304c\u73fe\u72b6\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\u75c5\u6c17\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\u3001\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\n\n\n<div 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FOXG1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u75c7\u72b6\uff0814q12\u9818\u57df\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\/proximal-chromosome-14q-deletion-syndrome-guide\/#2_NKX2-1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%AB%E3%82%88%E3%82%8B%E7%97%87%E7%8A%B6%EF%BC%8814q13%E9%A0%98%E5%9F%9F%EF%BC%89\" >2. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-deletion-syndrome-guide\/#2_%E9%A0%AD%E9%83%A8MRI%E6%A4%9C%E6%9F%BB\" >2. \u982d\u90e8MRI\u691c\u67fb<\/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\/proximal-chromosome-14q-deletion-syndrome-guide\/#3_%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%94%B2%E7%8A%B6%E8%85%BA%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%EF%BC%89\" >3. \u8840\u6db2\u691c\u67fb\uff08\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-deletion-syndrome-guide\/#4_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\" >4. \u8133\u6ce2\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-deletion-syndrome-guide\/#1_%E5%8C%BB%E7%99%82%E7%9A%84%E7%AE%A1%E7%90%86%EF%BC%88%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E6%B2%BB%E7%99%82%EF%BC%89\" >1. \u533b\u7642\u7684\u7ba1\u7406\uff08\u5408\u4f75\u75c7\u306e\u6cbb\u7642\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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%EF%BC%9A%E3%81%82%E3%81%AA%E3%81%9F%E3%81%A8%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%AE%E6%AD%A9%E3%82%80%E9%81%93\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u3042\u306a\u305f\u3068\u304a\u5b50\u69d8\u306e\u6b69\u3080\u9053<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-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>14q\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u300c14\u756a\u67d3\u8272\u4f53\u300d\u306e\u4e2d\u5fc3\u306b\u8fd1\u3044\u90e8\u5206\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 14\uff0814\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\u306414\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\u300214\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u60c5\u5831\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u3053\u306e\u300c\u9577\u8155\u300d\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Proximal\uff08\u8fd1\u4f4d\uff09:<\/strong> \u67d3\u8272\u4f53\u306e\u300c\u4e2d\u5fc3\uff08\u52d5\u539f\u4f53\uff09\u300d\u306b\u8fd1\u3044\u90e8\u5206\u3092\u6307\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001<strong>14q11.2\u300114q12\u300114q13<\/strong> \u3068\u3044\u3063\u305f\u9818\u57df\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion\uff08\u6b20\u5931\uff09:<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E9%87%8D%E8%A6%81%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\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\u7b2c14\u5dfb\u306e\u6700\u521d\u306e\u6570\u7ae0\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\u300c\u8fd1\u4f4d\u300d\u9818\u57df\u306b\u306f\u3001\u8133\u3084\u80ba\u3001\u7532\u72b6\u817a\u306e\u5f62\u6210\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u91cd\u8981\u306a\u306e\u304c\u4ee5\u4e0b\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>FOXG1\u907a\u4f1d\u5b50:<\/strong> \u8133\uff08\u7279\u306b\u5927\u8133\uff09\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306a\u6307\u4ee4\u3092\u51fa\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>NKX2-1\u907a\u4f1d\u5b50:<\/strong> \u8133\u3001\u80ba\u3001\u7532\u72b6\u817a\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u306b\u3088\u3063\u3066\u3001\u73fe\u308c\u308b\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u306e\u304c\u3053\u306e\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>14q\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306b\u300c\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u300d\u306b\u3088\u3063\u3066\u5927\u304d\u304f2\u3064\u306e\u30bf\u30a4\u30d7\uff08\u3042\u308b\u3044\u306f\u305d\u306e\u6df7\u5408\uff09\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_FOXG1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%AB%E3%82%88%E3%82%8B%E7%97%87%E7%8A%B6%EF%BC%8814q12%E9%A0%98%E5%9F%9F%EF%BC%89\"><\/span><strong>1. FOXG1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u75c7\u72b6\uff0814q12\u9818\u57df\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u75c7\u72b6\u306f\u300cFOXG1\u75c7\u5019\u7fa4\uff08\u4ee5\u524d\u306f\u5148\u5929\u6027\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u30d0\u30ea\u30a2\u30f3\u30c8\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\uff09\u300d\u3068\u307b\u307c\u540c\u3058\u306b\u306a\u308a\u307e\u3059\u3002\u8133\u306e\u767a\u9054\u306b\u5f37\u3044\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\uff08\u3057\u3087\u3046\u3068\u3046\u3057\u3087\u3046\uff09:<br>\u751f\u307e\u308c\u305f\u6642\u3001\u307e\u305f\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u3001\u982d\u306e\u6210\u9577\u304c\u7de9\u3084\u304b\u3067\u3001\u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u5c0f\u3055\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\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\u3084\u3001\u8a00\u8449\u306e\u767a\u9054\u304c\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3067\u3059\u3002\u81ea\u529b\u3067\u306e\u6b69\u884c\u3084\u4f1a\u8a71\u304c\u96e3\u3057\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u624b\u306e\u52d5\u304d:<br>\u624b\u3092\u63c9\u3080\u3088\u3046\u306a\u52d5\u304d\u3001\u624b\u3092\u53e9\u304f\u52d5\u304d\u3001\u624b\u3092\u53e3\u306b\u5165\u308c\u308b\u306a\u3069\u3001\u7e70\u308a\u8fd4\u3057\u884c\u3046\u52d5\u4f5c\uff08\u5e38\u540c\u904b\u52d5\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u968f\u610f\u904b\u52d5\uff08\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u30fb\u821e\u8e0f\u904b\u52d5\uff09:<br>\u81ea\u5206\u306e\u610f\u5fd7\u3068\u306f\u95a2\u4fc2\u306a\u304f\u3001\u4f53\u304c\u304f\u306d\u304f\u306d\u52d5\u3044\u305f\u308a\u3001\u624b\u8db3\u304c\u52dd\u624b\u306b\u52d5\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c:<br>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u767a\u4f5c\u304c\u8d77\u304d\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u304a\u85ac\u3067\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u5de5\u592b\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff08\u70b9\u982d\u3066\u3093\u304b\u3093\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u306e\u4f4e\u5f62\u6210:<br>MRI\u691c\u67fb\u3067\u3001\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u300c\u8133\u6881\u300d\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u6210\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u5206\u304b\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_NKX2-1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%AB%E3%82%88%E3%82%8B%E7%97%87%E7%8A%B6%EF%BC%8814q13%E9%A0%98%E5%9F%9F%EF%BC%89\"><\/span><strong>2. NKX2-1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u75c7\u72b6\uff0814q13\u9818\u57df\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u300c\u8133\u30fb\u80ba\u30fb\u7532\u72b6\u817a\u75c7\u5019\u7fa4\uff08Brain-Lung-Thyroid syndrome\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u826f\u6027\u306e\u907a\u4f1d\u6027\u821e\u8e0f\u75c5\uff08Benign hereditary chorea\uff09:<br>\u5e7c\u5150\u671f\u304b\u3089\u3001\u624b\u8db3\u3084\u4f53\u304c\u52dd\u624b\u306b\u52d5\u304f\u821e\u8e0f\u904b\u52d5\uff08\u30c0\u30f3\u30b9\u306e\u3088\u3046\u306a\u52d5\u304d\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u77e5\u7684\u306a\u9045\u308c\u306f\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u5668\u75c7\u72b6:<br>\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u7aae\u8feb\uff08\u547c\u5438\u304c\u82e6\u3057\u3044\uff09\u3001\u7e70\u308a\u8fd4\u3059\u80ba\u708e\u3001\u5598\u606f\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u80ba\u306e\u5f62\u6210\u304c\u672a\u719f\u306a\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7:<br>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u305a\u3001\u6d3b\u6c17\u304c\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u767a\u9054\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%85%B1%E9%80%9A%E3%81%97%E3%82%84%E3%81%99%E3%81%84%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u305d\u306e\u4ed6\u306e\u5171\u901a\u3057\u3084\u3059\u3044\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09:<br>\u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\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\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u30fb\u56a5\u4e0b\u969c\u5bb3:<br>\u30df\u30eb\u30af\u3092\u5438\u3046\u529b\u304c\u5f31\u3044\u3001\u98f2\u307f\u8fbc\u307f\u304c\u4e0b\u624b\u3067\u3080\u305b\u3084\u3059\u3044\u3001\u98df\u4e8b\u304c\u9032\u307e\u306a\u3044\u3068\u3044\u3063\u305f\u554f\u984c\u304c\u8d77\u304d\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061:<br>\u304a\u3067\u3053\u304c\u5e83\u3044\u3001\u7709\u6bdb\u306e\u5f62\u304c\u7279\u5fb4\u7684\uff08\u5f13\u72b6\uff09\u3001\u9f3b\u5148\u304c\u5c11\u3057\u3075\u3063\u304f\u3089\u3057\u3066\u3044\u308b\u3001\u306a\u3069\u306e\u304a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u500b\u6027\u306b\u99b4\u67d3\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/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\u5f37\u304f\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>14q\u8fd1\u4f4d\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>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u3067\u304d\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\u306bFOXG1\u3084NKX2-1\u306f\u3001\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\u4f53\u306b\u5927\u304d\u306a\u5f71\u97ff\u304c\u51fa\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u308c\u3092\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u547c\u3073\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\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\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\u767a\u9054\u306e\u9045\u308c\u3084\u5c0f\u982d\u75c7\u3001\u547c\u5438\u5668\u306e\u554f\u984c\u306a\u3069\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB_CMA\"><\/span><strong>1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u3001\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306fDNA\u30ec\u30d9\u30eb\u3067\u8abf\u3079\u308b\u305f\u3081\u3001\u300c14q12\u306eFOXG1\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u7bc4\u56f2\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%A0%AD%E9%83%A8MRI%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u982d\u90e8MRI\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u8133\u6881\u306e\u7570\u5e38\u3084\u3001\u8133\u306e\u30b7\u30ef\uff08\u8133\u56de\uff09\u306e\u30d1\u30bf\u30fc\u30f3\u3001\u8133\u5ba4\u306e\u62e1\u5927\u306a\u3069\u3092\u78ba\u8a8d\u3057\u3001\u4eca\u5f8c\u306e\u767a\u9054\u4e88\u6e2c\u3084\u6cbb\u7642\u65b9\u91dd\u306e\u53c2\u8003\u306b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%94%B2%E7%8A%B6%E8%85%BA%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%EF%BC%89\"><\/span><strong>3. \u8840\u6db2\u691c\u67fb\uff08\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u306b14q13\u9818\u57df\u306e\u6b20\u5931\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u304c\u306a\u3044\u304b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u6cbb\u7642\u53ef\u80fd\u306a\u75c7\u72b6\u3067\u3042\u308b\u305f\u3081\u3001\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8133\u6ce2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u3001\u3042\u308b\u3044\u306f\u767a\u4f5c\u306e\u3088\u3046\u306a\u52d5\u304d\u304c\u3042\u3063\u305f\u5834\u5408\u306b\u3001\u8133\u306e\u96fb\u6c17\u6d3b\u52d5\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/1381925_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121568\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\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>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u300c\u75c7\u72b6\u3092\u548c\u3089\u3052\u3001\u5408\u4f75\u75c7\u3092\u9632\u304e\u3001\u304a\u5b50\u69d8\u306e\u6301\u3063\u3066\u3044\u308b\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u300d\uff08\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%8C%BB%E7%99%82%E7%9A%84%E7%AE%A1%E7%90%86%EF%BC%88%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E6%B2%BB%E7%99%82%EF%BC%89\"><\/span><strong>1. \u533b\u7642\u7684\u7ba1\u7406\uff08\u5408\u4f75\u75c7\u306e\u6cbb\u7642\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642:<br>\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u3066\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002\u7a2e\u985e\u306b\u3088\u3063\u3066\u306f\u52b9\u304d\u306b\u304f\u3044\u5834\u5408\u3082\u3042\u308a\uff08\u96e3\u6cbb\u6027\uff09\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u306a\u3069\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u5668\u30b1\u30a2:<br>\u80ba\u306e\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u3001\u5438\u5165\u7642\u6cd5\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5728\u5b85\u9178\u7d20\u7642\u6cd5\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3066\u80ba\u708e\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u4e88\u9632\u63a5\u7a2e\uff08\u30b7\u30ca\u30b8\u30b9\u306a\u3069\uff09\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145:<br>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6bce\u65e5\u304a\u85ac\uff08\u30c1\u30e9\u30fc\u30b8\u30f3\u306a\u3069\uff09\u3092\u98f2\u3080\u3053\u3068\u3067\u3001\u4e0d\u8db3\u3057\u3066\u3044\u308b\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u6d3b\u6c17\u304c\u51fa\u3066\u767a\u9054\u304c\u4fc3\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u30fb\u6804\u990a\u7ba1\u7406:<br>\u53e3\u304b\u3089\u98df\u3079\u308b\u306e\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\uff08\u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3066\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\u65b9\u6cd5\uff09\u3092\u4f7f\u3063\u3066\u3001\u5341\u5206\u306a\u6804\u990a\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u3057\u3063\u304b\u308a\u6804\u990a\u3092\u3068\u308b\u3053\u3068\u306f\u3001\u8133\u3068\u4f53\u306e\u6210\u9577\u306e\u57fa\u672c\u3067\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\u3084\u4e0d\u968f\u610f\u904b\u52d5\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u59ff\u52e2\u3092\u4fdd\u3064\u7df4\u7fd2\u3084\u3001\u88c5\u5177\uff08\u30a4\u30f3\u30bd\u30fc\u30eb\u3084\u30b3\u30eb\u30bb\u30c3\u30c8\uff09\u3092\u4f7f\u3063\u3066\u4f53\u306e\u5b89\u5b9a\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5 (OT):<br>\u624b\u306e\u4f7f\u3044\u306b\u304f\u3055\u304c\u3042\u308b\u5834\u5408\u3067\u3082\u3001\u611f\u899a\u904a\u3073\u3092\u901a\u3058\u3066\u624b\u3078\u306e\u523a\u6fc0\u3092\u5165\u308c\u305f\u308a\u3001\u30b9\u30a4\u30c3\u30c1\u304a\u3082\u3061\u3083\u3092\u4f7f\u3063\u3066\u300c\u81ea\u5206\u3067\u64cd\u4f5c\u3059\u308b\u697d\u3057\u3055\u300d\u3092\u5b66\u3093\u3060\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<br>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u529b\u3092\u80b2\u3066\u307e\u3059\u3002\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u63a2\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u5b89\u5168\u306b\u98df\u3079\u308b\u305f\u3081\u306e\u98f2\u307f\u8fbc\u307f\u306e\u8a13\u7df4\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><strong>\u4fbf\u79d8\u5bfe\u7b56:<\/strong> \u7b4b\u7dca\u5f35\u304c\u5f31\u3044\u3068\u4fbf\u79d8\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u5185\u670d\u85ac\u3084\u6d63\u8178\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f53\u6e29\u8abf\u7bc0:<\/strong> \u81ea\u5f8b\u795e\u7d4c\u306e\u8abf\u6574\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u3042\u308a\u3001\u5ba4\u6e29\u8abf\u6574\u306b\u6c17\u3092\u914d\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>14q\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u300114\u756a\u67d3\u8272\u4f53\u4e2d\u5fc3\u4ed8\u8fd1\uff0814q11-q13\uff09\u306e\u6b20\u5931\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u3001\u6b20\u5931\u90e8\u4f4d\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5c0f\u982d\u75c7\u3001\u767a\u9054\u9045\u6ede\u3001\u3066\u3093\u304b\u3093\u3001\u547c\u5438\u5668\u30fb\u7532\u72b6\u817a\u306e\u554f\u984c\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FOXG1\u907a\u4f1d\u5b50<\/strong>\u3084<strong>NKX2-1\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u304c\u3001\u75c7\u72b6\u3092\u7406\u89e3\u3059\u308b\u9375\u3068\u306a\u308a\u307e\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>\u6cbb\u7642<\/strong>\u306f\u3001\u3066\u3093\u304b\u3093\u3084\u7532\u72b6\u817a\u306e\u7ba1\u7406\u3001\u547c\u5438\u5668\u30b1\u30a2\u3001\u305d\u3057\u3066\u65e9\u671f\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%EF%BC%9A%E3%81%82%E3%81%AA%E3%81%9F%E3%81%A8%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%AE%E6%AD%A9%E3%82%80%E9%81%93\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u3042\u306a\u305f\u3068\u304a\u5b50\u69d8\u306e\u6b69\u3080\u9053<\/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\u666e\u901a\u306e\u751f\u6d3b\u304c\u9001\u308c\u306a\u3044\u306e\u3067\u306f\u306a\u3044\u304b\u300d\u300c\u4e00\u751f\u533b\u7642\u30b1\u30a2\u304c\u5fc5\u8981\u306a\u306e\u304b\u300d\u3068\u3044\u3046\u4e0d\u5b89\u306e\u6e26\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u7279\u306b\u3001\u3066\u3093\u304b\u3093\u3084\u547c\u5438\u5668\u306e\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u3001\u65e5\u3005\u306e\u30b1\u30a2\u306b\u8ffd\u308f\u308c\u3001\u5fc3\u304c\u4f11\u307e\u308b\u6687\u304c\u306a\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u3042\u304f\u307e\u3067\u305d\u306e\u5b50\u306e\u300c\u7279\u5fb4\u306e\u4e00\u90e8\u300d\u306b\u904e\u304e\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>14q\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u78ba\u304b\u306b\u591a\u304f\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u304c\u3001\u540c\u6642\u306b\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306e\u58f0\u306b\u53cd\u5fdc\u3057\u3066\u898b\u305b\u308b\u5b89\u5fc3\u3057\u305f\u8868\u60c5\u3001\u62b1\u3063\u3053\u3055\u308c\u305f\u6642\u306e\u6e29\u3082\u308a\u3001\u597d\u304d\u306a\u97f3\u697d\u306b\u8033\u3092\u50be\u3051\u308b\u59ff\u3002\u8a00\u8449\u306f\u306a\u304f\u3066\u3082\u3001\u304a\u5b50\u69d8\u306f\u5168\u8eab\u3067\u300c\u751f\u304d\u308b\u529b\u300d\u3092\u8868\u73fe\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3067\u304d\u306a\u3044\u3053\u3068\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u305d\u306e\u5b50\u306e\u5909\u5316\u300d\u3092\u898b\u3066\u304f\u3060\u3055\u3044<\/p>\n\n\n\n<p>\u533b\u5b66\u66f8\u306b\u66f8\u304b\u308c\u3066\u3044\u308b\u306e\u306f\u300c\u75c7\u72b6\u300d\u3067\u3059\u304c\u3001\u76ee\u306e\u524d\u306b\u3044\u308b\u306e\u306f\u300c\u304a\u5b50\u69d8\u81ea\u8eab\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6628\u65e5\u306f\u98f2\u3081\u306a\u304b\u3063\u305f\u30df\u30eb\u30af\u304c\u4eca\u65e5\u306f\u5c11\u3057\u98f2\u3081\u305f\u3001\u76ee\u304c\u5408\u3046\u6642\u9593\u304c\u9577\u304f\u306a\u3063\u305f\u3002\u305d\u3093\u306a\u30df\u30ea\u5358\u4f4d\u306e\u6210\u9577\u304c\u3001\u3053\u306e\u5b50\u305f\u3061\u306b\u306f\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u5c0f\u3055\u306a\u4e00\u6b69\u3092\u3001\u3054\u5bb6\u65cf\u3067\u76db\u5927\u306b\u795d\u3063\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067<\/p>\n\n\n\n<p>FOXG1\u75c7\u5019\u7fa4\u3084<a 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