{"id":121836,"date":"2026-01-07T17:39:48","date_gmt":"2026-01-07T08:39:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121836"},"modified":"2026-01-07T17:39:50","modified_gmt":"2026-01-07T08:39:50","slug":"distal-chromosome-13q-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/","title":{"rendered":"13q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c13q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0813\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\u6b20\u5931\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>\u300c13\u756a\uff1f\u300d\u300c\u6b20\u5931\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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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/#4_%E6%89%8B%E8%B6%B3%E3%81%AE%E7%89%B9%E5%BE%B4\" >4. \u624b\u8db3\u306e\u7279\u5fb4<\/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\/distal-chromosome-13q-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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/#2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/#3_%E7%92%B0%E7%8A%B6%E6%9F%93%E8%89%B2%E4%BD%93%EF%BC%88%E3%83%AA%E3%83%B3%E3%82%B0%E3%82%AF%E3%83%AD%E3%83%A2%E3%82%BD%E3%83%BC%E3%83%A0%EF%BC%89\" >3. \u74b0\u72b6\u67d3\u8272\u4f53\uff08\u30ea\u30f3\u30b0\u30af\u30ed\u30e2\u30bd\u30fc\u30e0\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/#1_G%E5%88%86%E6%9F%93%E6%B3%95%EF%BC%88%E4%B8%80%E8%88%AC%E7%9A%84%E3%81%AA%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%89\" >1. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/#1_%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\" >1. \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\/distal-chromosome-13q-deletion-syndrome-guide\/#2_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E5%8C%BB%E7%99%82%E7%9A%84%E7%AE%A1%E7%90%86\" >2. \u5408\u4f75\u75c7\u306e\u533b\u7642\u7684\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/#3_%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E6%94%AF%E6%8F%B4\" >3. \u6559\u80b2\u3068\u751f\u6d3b\u652f\u63f4<\/a><\/li><\/ul><\/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\/distal-chromosome-13q-deletion-syndrome-guide\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E3%83%92%E3%83%B3%E3%83%88\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u30d2\u30f3\u30c8<\/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\/distal-chromosome-13q-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\/distal-chromosome-13q-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\/distal-chromosome-13q-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>13q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u300c13\u756a\u67d3\u8272\u4f53\u300d\u306e\u7aef\u3063\u3053\uff08\u672b\u7aef\uff09\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\u96e3\u3057\u3044\u540d\u524d\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 13\uff0813\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\u306413\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\u300213\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u60c5\u5831\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u3053\u306e\u300c\u9577\u8155\u300d\u306b\u8a70\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Distal\uff08\u672b\u7aef\/\u9060\u4f4d\uff09:<\/strong> \u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u304b\u3089\u9060\u3044\u3001\u300c\u7aef\u3063\u3053\u300d\u306e\u65b9\u3092\u6307\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u300c13q31\u300d\u304b\u3089\u5148\u306e\u9818\u57df\u306a\u3069\u3092\u6307\u3059\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3069\u3053\u304b\u3089\u5207\u308c\u3066\u3044\u308b\u304b\u306f\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion\uff08\u6b20\u5931\uff09:<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E6%9C%80%E7%B5%82%E7%AB%A0%E3%81%8C%E3%81%AA%E3%81%84%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u6700\u7d42\u7ae0\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\u7b2c13\u5dfb\u306e\u7d42\u308f\u308a\u306e\u65b9\u306e\u30da\u30fc\u30b8\u304c\u7834\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u300d\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\u306b\u306f\u3001\u8133\u306e\u5f62\u6210\u3001\u624b\u8db3\u306e\u767a\u9054\u3001\u5185\u81d3\u306e\u6a5f\u80fd\u306a\u3069\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u6307\u793a\uff08\u907a\u4f1d\u5b50\uff09\u304c\u66f8\u304b\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u6307\u793a\u304c\u8aad\u3081\u306a\u3044\u305f\u3081\u306b\u3001\u69d8\u3005\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"13q%E6%AC%A0%E5%A4%B1%E3%81%AE%E5%88%86%E9%A1%9E%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%88%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>13q\u6b20\u5931\u306e\u5206\u985e\u306b\u3064\u3044\u3066\uff08\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>13\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u3001\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u4f4d\u6b20\u5931\uff08\u304d\u3093\u3044\uff09\uff1a<\/strong> \u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u306b\u8fd1\u3044\u90e8\u5206\u306e\u6b20\u5931\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9593\u90e8\u6b20\u5931\uff1a<\/strong> \u771f\u3093\u4e2d\u3042\u305f\u308a\u306e\u6b20\u5931\uff08<strong>\u7db2\u819c\u82bd\u7d30\u80de\u816b<\/strong>\u306e\u539f\u56e0\u3068\u306a\u308b<em>RB1<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u672b\u7aef\u6b20\u5931\uff08\u4eca\u56de\u89e3\u8aac\uff09\uff1a \u7aef\u3063\u3053\u306e\u6b20\u5931\u3002\u8133\u306e\u767a\u9054\u3084\u624b\u8db3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\uff08ZIC2\u3084EFNB2\u306a\u3069\uff09\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<br>\u203b\u305f\u3060\u3057\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u3053\u308c\u3089\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306f\u3001\u300c\u3069\u3053\u304b\u3089\u5207\u308c\u3066\u3044\u308b\u304b\uff08\u6b20\u5931\u306e\u958b\u59cb\u70b9\uff09\u300d<strong>\u3084<\/strong>\u300c\u3069\u308c\u304f\u3089\u3044\u306e\u7bc4\u56f2\u304c\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u304b\uff08\u6b20\u5931\u30b5\u30a4\u30ba\uff09\u300d\u306b\u3088\u3063\u3066\u3001\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u3067\u3059\u3002\u300c\u3059\u3079\u3066\u306e\u5b50\u306b\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u51fa\u308b\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%88%90%E9%95%B7%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>1. \u6210\u9577\u3068\u767a\u9054\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\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\u30cf\u30a4\u30cf\u30a4\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<\/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\u8a00\u8449\u306e\u7406\u89e3\u3084\u767a\u8a9e\u306b\u6642\u9593\u3092\u8981\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u969c\u5bb3:<br>\u304a\u8179\u306e\u4e2d\u306b\u3044\u308b\u6642\u304b\u3089\u5c0f\u3055\u3081\uff08\u80ce\u5185\u767a\u80b2\u4e0d\u5168\uff09\u3067\u3042\u3063\u305f\u308a\u3001\u751f\u307e\u308c\u305f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u3048\u304c\u7de9\u3084\u304b\uff08\u4f4e\u8eab\u9577\uff09\u3067\u3042\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u4e0d\u8db3\u304c\u95a2\u308f\u3063\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%A0%AD%E9%83%A8%E3%81%A8%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u982d\u90e8\u3068\u9854\u8c8c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308b\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u3042\u308a\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>\u982d\u306e\u5468\u56f2\u304c\u5e73\u5747\u3088\u308a\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3053\u308c\u306f\u8133\u306e\u6210\u9577\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u304a\u9854\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u3067\u3053\u304c\u5e83\u3044\u3001\u307e\u305f\u306f\u9ad8\u3044<\/li>\n\n\n\n<li>\u7709\u9593\uff08\u76ee\u3068\u76ee\u306e\u9593\uff09\u304c\u5e83\u3044<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684<\/li>\n\n\n\n<li>\u9f3b\u304c\u77ed\u3044\u3001\u9f3b\u6839\u304c\u592a\u3044<br>\u203b\u3053\u308c\u3089\u306f\u300c\u611b\u5b0c\u306e\u3042\u308b\u304a\u9854\u300d\u3068\u8868\u73fe\u3055\u308c\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u500b\u6027\u306e\u7bc4\u56f2\u306b\u306a\u3058\u3093\u3067\u3044\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%84%B3%E3%81%AE%E6%A7%8B%E9%80%A0%E7%95%B0%E5%B8%B8%EF%BC%88%E3%83%9B%E3%83%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%83%B3%E3%82%B9%E3%83%95%E3%82%A1%E3%83%AA%E3%83%BC%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>3. \u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u30db\u30ed\u30d7\u30ed\u30bb\u30f3\u30b9\u30d5\u30a1\u30ea\u30fc\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>13q\u672b\u7aef\uff08\u7279\u306b13q32\u9818\u57df\uff09\u306b\u306f\u3001<strong>ZIC2<\/strong>\u3068\u3044\u3046\u8133\u304c\u5de6\u53f3\u306b\u5206\u304b\u308c\u308b\u306e\u3092\u52a9\u3051\u308b\u907a\u4f1d\u5b50\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5168\u524d\u8133\u80de\u75c7\uff08\u305c\u3093\u305c\u3093\u306e\u3046\u307b\u3046\u3057\u3087\u3046\uff1aHPE\uff09:<br>\u8133\u304c\u5de6\u53f3\u306b\u304d\u308c\u3044\u306b\u5206\u304b\u308c\u306a\u3044\u72b6\u614b\u3067\u3059\u3002\u8efd\u5ea6\u306e\u5834\u5408\u306f\u307b\u3068\u3093\u3069\u75c7\u72b6\u304c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u5ea6\u306e\u5834\u5408\u306f\u9854\u9762\u306e\u5f62\u6210\uff08\u53e3\u5507\u53e3\u84cb\u88c2\u306a\u3069\uff09\u3084\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u6b20\u640d:<br>\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u6a4b\u306e\u90e8\u5206\u304c\u306a\u3044\u3001\u307e\u305f\u306f\u8584\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%89%8B%E8%B6%B3%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>4. \u624b\u8db3\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6307\u306e\u7570\u5e38:<br>\u89aa\u6307\u304c\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9006\u306b\u3001\u5c0f\u6307\u5074\u306b\u4f59\u5206\u306a\u6307\u304c\u3042\u308b\uff08\u591a\u6307\u75c7\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8db3\u306e\u6307:<br>\u8db3\u306e\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff08\u5408\u6307\u75c7\uff09\u3053\u3068\u3084\u3001\u5185\u53cd\u8db3\uff08\u8db3\u304c\u5185\u5074\u3092\u5411\u3044\u3066\u3044\u308b\uff09\u304c\u898b\u3089\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=\"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<ul class=\"wp-block-list\">\n<li>\u773c\u306e\u75c7\u72b6:<br>\u773c\u7403\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u773c\u7403\uff09\u3001\u8679\u5f69\uff08\u9ed2\u76ee\u306e\u90e8\u5206\uff09\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\uff08\u8679\u5f69\u6b20\u640d\uff09\u3001\u8996\u529b\u306e\u554f\u984c\u306a\u3069\u3002<br>\u203b\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304f\u300c13q14\u300d\u307e\u3067\u53ca\u3093\u3067\u3044\u308b\u5834\u5408\u306f\u3001**\u7db2\u819c\u82bd\u7d30\u80de\u816b\uff08\u76ee\u306e\u816b\u760d\uff09\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u691c\u67fb\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5185\u81d3\u306e\u7570\u5e38:<br>\u5fc3\u75be\u60a3\u3001\u814e\u81d3\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38\u3001\u8178\u306e\u795e\u7d4c\u306e\u554f\u984c\uff08\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\uff09\u306a\u3069\u304c\u5408\u4f75\u3059\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\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u3057\u304b\u3057\u3001\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\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>13q\u672b\u7aef\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\u7aef\u3063\u3053\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_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%92%B0%E7%8A%B6%E6%9F%93%E8%89%B2%E4%BD%93%EF%BC%88%E3%83%AA%E3%83%B3%E3%82%B0%E3%82%AF%E3%83%AD%E3%83%A2%E3%82%BD%E3%83%BC%E3%83%A0%EF%BC%89\"><\/span><strong>3. \u74b0\u72b6\u67d3\u8272\u4f53\uff08\u30ea\u30f3\u30b0\u30af\u30ed\u30e2\u30bd\u30fc\u30e0\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>13\u756a\u67d3\u8272\u4f53\u306e\u4e21\u7aef\uff08\u77ed\u8155\u3068\u9577\u8155\u306e\u7aef\uff09\u304c\u5207\u308c\u3066\u304f\u3063\u3064\u304d\u3001\u30ea\u30f3\u30b0\u72b6\u306b\u306a\u308b\u300cRing 13\u300d\u3068\u3044\u3046\u72b6\u614b\u306e\u969b\u306b\u3001\u7d50\u679c\u3068\u3057\u3066\u672b\u7aef\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\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\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u3084\u767a\u9054\u306e\u9045\u308c\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_G%E5%88%86%E6%9F%93%E6%B3%95%EF%BC%88%E4%B8%80%E8%88%AC%E7%9A%84%E3%81%AA%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%89\"><\/span><strong>1. G\u5206\u67d3\u6cd5\uff08\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u7e1e\u6a21\u69d8\u3092\u898b\u3066\u3001\u5927\u304d\u306a\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3044\u5834\u5408\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%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>2. \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\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>DNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u305f\u3081\u3001\u300c13\u756a\u67d3\u8272\u4f53\u306e\u6b63\u78ba\u306b\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u304b\u300d\u3092\u8a73\u7d30\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08ZIC2\u3084RB1\u306a\u3069\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u304c\u5206\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\uff08\u5168\u524d\u8133\u80de\u75c7\u3084\u8133\u6881\u306e\u72b6\u614b\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u8d85\u97f3\u6ce2\u30fb\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u5185\u81d3\u306e\u7570\u5e38\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u691c\u67fb:<\/strong> \u773c\u5e95\u691c\u67fb\u306a\u3069\u3067\u76ee\u306e\u69cb\u9020\u3084\u816b\u760d\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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\/3902260_s-1.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121783\"\/><\/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\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_%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>1. \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\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u306b\u5bfe\u3057\u3066\u3001\u5ea7\u308b\u30fb\u7acb\u3064\u30fb\u6b69\u304f\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\u904a\u3073\u3084\u98df\u4e8b\u3001\u7740\u66ff\u3048\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>\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u30df\u30eb\u30af\u304c\u3046\u307e\u304f\u98f2\u3081\u306a\u3044\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u5834\u5408\u306e\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=\"2_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E5%8C%BB%E7%99%82%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>2. \u5408\u4f75\u75c7\u306e\u533b\u7642\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u3066\u3001\u5c02\u9580\u533b\u304c\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u79d1:<\/strong> \u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u304a\u85ac\u3067\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u8996\u529b\u77ef\u6b63\u3084\u5408\u4f75\u75c7\u306e\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002\u3082\u3057<em>RB1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u306e\u305f\u3081\u306b\u983b\u7e41\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1:<\/strong> \u6307\u306e\u5909\u5f62\u3084\u6b69\u884c\u306b\u5f71\u97ff\u304c\u3042\u308b\u5834\u5408\u3001\u624b\u8853\u3084\u88c5\u5177\u306e\u4f7f\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u79d1:<\/strong> \u8457\u3057\u3044\u4f4e\u8eab\u9577\u306e\u5834\u5408\u3001\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306e\u9069\u5fdc\u306b\u306a\u308b\u304b\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E6%94%AF%E6%8F%B4\"><\/span><strong>3. \u6559\u80b2\u3068\u751f\u6d3b\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c31\u5b66\u306b\u5411\u3051\u3066\u306f\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u74b0\u5883\u9078\u3073\u304c\u5927\u5207\u3067\u3059\u3002\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u5c02\u9580\u5bb6\u306e\u610f\u898b\u3092\u805e\u304d\u306a\u304c\u3089\u3001\u304a\u5b50\u69d8\u304c\u4e00\u756a\u5b89\u5fc3\u3057\u3066\u904e\u3054\u305b\u3001\u81ea\u4fe1\u3092\u6301\u3063\u3066\u5b66\u3079\u308b\u5834\u6240\u3092\u9078\u3073\u307e\u3059\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%E3%83%92%E3%83%B3%E3%83%88\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u30d2\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>13q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u66ae\u3089\u3059\u4e0a\u3067\u3001\u5f79\u7acb\u3064\u8996\u70b9\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u3067\u304d\u305f\uff01\u300d\u3092\u7a4d\u307f\u91cd\u306d\u308b:<br>\u4ed6\u306e\u5b50\u3084\u300c\u5e73\u5747\u300d\u3068\u6bd4\u3079\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u5148\u6708\u300d\u3068\u300c\u4eca\u6708\u300d\u3092\u6bd4\u3079\u307e\u3057\u3087\u3046\u3002\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u78ba\u5b9f\u306b\u3067\u304d\u308b\u3053\u3068\u306f\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002\u300c\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3066\u305f\u300d\u300c\u76ee\u304c\u5408\u3063\u3066\u7b11\u3063\u305f\u300d\u3001\u305d\u306e\u5c0f\u3055\u306a\u4e00\u6b69\u3092\u5bb6\u65cf\u3067\u76db\u5927\u306b\u795d\u3063\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002\u81ea\u5df1\u80af\u5b9a\u611f\u304c\u80b2\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4fbf\u79d8\u306e\u30b1\u30a2:<br>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u8178\u306e\u52d5\u304d\u306e\u5f31\u3055\u304b\u3089\u3001\u4fbf\u79d8\u306b\u306a\u308a\u3084\u3059\u3044\u304a\u5b50\u69d8\u304c\u591a\u3044\u3067\u3059\u3002\u6c34\u5206\u6442\u53d6\u3001\u30de\u30c3\u30b5\u30fc\u30b8\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u3066\u85ac\u3092\u4f7f\u3044\u3001\u304a\u8179\u306e\u8abf\u5b50\u3092\u6574\u3048\u308b\u3053\u3068\u306f\u3001\u6a5f\u5acc\u3088\u304f\u904e\u3054\u3059\u305f\u3081\u306b\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56:<br>\u5408\u4f75\u75c7\u306b\u3088\u3063\u3066\u306f\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u6d17\u3044\u3084\u3046\u304c\u3044\u3001\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u306a\u3069\u3001\u57fa\u672c\u7684\u306a\u4e88\u9632\u3092\u5fc3\u304c\u3051\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ul>\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<ul class=\"wp-block-list\">\n<li><strong>13q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u300113\u756a\u67d3\u8272\u4f53\u306e\u7aef\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u306b\u3088\u308b\u5e0c\u5c11\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\u5c0f\u982d\u75c7\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3001\u6307\u306e\u7570\u5e38\u306a\u3069\u3067\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u70b9<\/strong>\u3068\u3057\u3066\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u8133\u306e\u5f62\u6210\u7570\u5e38\u3084\u3001\u773c\u306e\u75be\u60a3\uff08RB1\u95a2\u9023\uff09\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u8a73\u7d30\u306a\u691c\u67fb\u304c\u5fc5\u8981\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>\u6cbb\u7642<\/strong>\u306f\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08PT, OT, ST\uff09\u304c\u6210\u9577\u306e\u30ab\u30ae\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%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 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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\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ol 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