{"id":121621,"date":"2026-01-07T14:20:07","date_gmt":"2026-01-07T05:20:07","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121621"},"modified":"2026-01-07T14:20:09","modified_gmt":"2026-01-07T05:20:09","slug":"chromosome-6q15-q23-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/","title":{"rendered":"6q15-q23\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c6q15-q23\u6b20\u5931\u75c7\u5019\u7fa4\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\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u82f1\u8a9e\u306e\u8ad6\u6587\u3070\u304b\u308a\u3067\u3001\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u306f\u307b\u3068\u3093\u3069\u898b\u3064\u304b\u3089\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u3053\u306e\u7279\u5b9a\u306e\u9818\u57df\uff08q15\u304b\u3089q23\uff09\u306b\u5909\u5316\u304c\u3042\u308b\u5834\u5408\u306b\u3001\u3069\u306e\u3088\u3046\u306a\u3053\u3068\u304c\u8d77\u3053\u308a\u3046\u308b\u306e\u304b\u3001\u305d\u3057\u3066\u3054\u5bb6\u65cf\u306f\u3069\u3046\u5411\u304d\u5408\u3063\u3066\u3044\u3051\u3070\u3088\u3044\u306e\u304b\u3092\u3001\u533b\u5b66\u7684\u306a\u77e5\u898b\u306b\u57fa\u3065\u3044\u3066\u5206\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u300cPrader-Willi\uff08\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\uff09\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u5225\u306e\u75c5\u6c17\u3068\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u7406\u7531\u3084\u5bfe\u7b56\u306b\u3064\u3044\u3066\u3082\u8a73\u3057\u304f\u89e6\u308c\u3066\u3044\u304d\u307e\u3059\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\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#%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\" >\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%81%AE%E6%84%8F%E5%91%B3\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u306e\u610f\u5473<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#%E3%80%8C%E4%B8%AD%E9%96%93%E9%83%A8%E6%AC%A0%E5%A4%B1%E3%80%8D%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4\" >\u300c\u4e2d\u9593\u90e8\u6b20\u5931\u300d\u3068\u3044\u3046\u7279\u5fb4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >\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-6q15-q23-deletion-syndrome-guide\/#1_Prader-Willi%E6%A7%98%EF%BC%88%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E3%82%88%E3%81%86%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\" >1. Prader-Willi\u69d8\uff08\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u3088\u3046\uff09\u306e\u75c7\u72b6<\/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-6q15-q23-deletion-syndrome-guide\/#2_%E7%99%BA%E9%81%94%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4\" >2. \u767a\u9054\u3068\u795e\u7d4c\u5b66\u7684\u7279\u5fb4<\/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-6q15-q23-deletion-syndrome-guide\/#3_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1\" >3. \u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%AF%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%80%8D\" >\u307b\u3068\u3093\u3069\u306f\u300c\u7a81\u7136\u5909\u7570\u300d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%9A%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7\" >\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff1a\u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#2_%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%88%E4%BB%96%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E5%8C%BA%E5%88%A5%EF%BC%89\" >2. \u9451\u5225\u8a3a\u65ad\uff08\u4ed6\u306e\u75c5\u6c17\u3068\u306e\u533a\u5225\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#1_%E8%82%A5%E6%BA%80%E3%81%A8%E6%A0%84%E9%A4%8A%E3%81%AE%E7%AE%A1%E7%90%86%EF%BC%88%E9%9D%9E%E5%B8%B8%E3%81%AB%E9%87%8D%E8%A6%81%EF%BC%89\" >1. \u80a5\u6e80\u3068\u6804\u990a\u306e\u7ba1\u7406\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#2_%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. \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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#3_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E5%AE%9A%E6%9C%9F%E3%83%81%E3%82%A7%E3%83%83%E3%82%AF\" >3. \u5408\u4f75\u75c7\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/#4_%E6%95%99%E8%82%B2%E3%81%A8%E7%A6%8F%E7%A5%89%E3%82%B5%E3%83%BC%E3%83%93%E3%82%B9%E3%81%AE%E6%B4%BB%E7%94%A8\" >4. \u6559\u80b2\u3068\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u6d3b\u7528<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-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%E7%84%A6%E3%82%89%E3%81%9A%E3%80%81%E3%81%9D%E3%81%AE%E5%AD%90%E3%81%AE%E3%80%8C%E4%BB%8A%E3%80%8D%E3%82%92%E8%A6%8B%E3%81%A6\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u7126\u3089\u305a\u3001\u305d\u306e\u5b50\u306e\u300c\u4eca\u300d\u3092\u898b\u3066<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>6q15-q23\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u300c6\u756a\u67d3\u8272\u4f53\u300d\u306e\u9577\u8155\uff08q\uff09\u306e\u4e2d\u9593\u90e8\u5206\uff0815\u756a\u304b\u308923\u756a\u306e\u30d0\u30f3\u30c9\u9818\u57df\uff09\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\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%81%AE%E6%84%8F%E5%91%B3\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u306e\u610f\u5473<\/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\u306e\u90e8\u5206\u304c\u306a\u304f\u306a\u3063\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 6:<\/strong> \u30d2\u30c8\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u5927\u304d\u3044\u65b9\u304b\u30896\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>q (\u9577\u8155):<\/strong> \u67d3\u8272\u4f53\u306e\u9577\u7d30\u3044\u65b9\u306e\u8155\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>15-23 (\u9818\u57df):<\/strong> \u9577\u8155\u306e\u4e2d\u9593\u306b\u4f4d\u7f6e\u3059\u308b\u7279\u5b9a\u306e\u533a\u753b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion (\u6b20\u5931):<\/strong> \u305d\u306e\u533a\u753b\u306e\u907a\u4f1d\u60c5\u5831\u304c\u3054\u3063\u305d\u308a\u3068\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%E4%B8%AD%E9%96%93%E9%83%A8%E6%AC%A0%E5%A4%B1%E3%80%8D%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4\"><\/span><strong>\u300c\u4e2d\u9593\u90e8\u6b20\u5931\u300d\u3068\u3044\u3046\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\uff08\u672b\u7aef\uff09\u304c\u5207\u308c\u3066\u3044\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u67d3\u8272\u4f53\u306e\u9014\u4e2d\u306e\u90e8\u5206\u304c\u629c\u3051\u3066\u3044\u308b\u305f\u3081\u3001\u300c\u4e2d\u9593\u90e8\u6b20\u5931\uff08Interstitial deletion\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5931\u308f\u308c\u305f\u90e8\u5206\u306b\u306f\u3001\u4f53\u306e\u5f62\u6210\u3084\u8133\u306e\u767a\u9054\u3001\u305d\u3057\u3066\u98df\u6b32\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u7279\u306bSIM1\u907a\u4f1d\u5b50\u306a\u3069\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5358\u306a\u308b\u767a\u9054\u306e\u9045\u308c\u3060\u3051\u3067\u306a\u304f\u3001\u4f53\u91cd\u7ba1\u7406\u306a\u3069\u306e\u7279\u6709\u306e\u30b1\u30a2\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u3001\u6b63\u78ba\u306b\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\u4e16\u754c\u4e2d\u306e\u5831\u544a\u4f8b\u304b\u3089\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\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_Prader-Willi%E6%A7%98%EF%BC%88%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E3%82%88%E3%81%86%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>1. Prader-Willi\u69d8\uff08\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u3088\u3046\uff09\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u30026q16\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u8996\u5e8a\u4e0b\u90e8\u306e\u767a\u9054\u306b\u95a2\u308f\u308b<strong>SIM1\u907a\u4f1d\u5b50<\/strong>\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u3001Prader-Willi\u75c7\u5019\u7fa4\uff0815\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\uff09\u306b\u3088\u304f\u4f3c\u305f\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u904e\u98df\u3068\u80a5\u6e80\u306e\u30ea\u30b9\u30af:<br>\u5e7c\u5c11\u671f\u4ee5\u964d\u3001\u98df\u6b32\u304c\u7570\u5e38\u306b\u5897\u3057\uff08\u904e\u98df\uff09\u3001\u4f53\u91cd\u304c\u6025\u6fc0\u306b\u5897\u3048\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u6e80\u8179\u611f\u3092\u611f\u3058\u306b\u304f\u3044\u300d\u3068\u3044\u3046\u8133\u306e\u7279\u6027\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u624b\u8db3:<br>\u4f53\u683c\u306b\u5bfe\u3057\u3066\u3001\u624b\u3084\u8db3\u304c\u5c0f\u3055\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f4e\u8eab\u9577:<br>\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u306b\u95a2\u308f\u308b\u6a5f\u80fd\u304c\u5f31\u304f\u3001\u8eab\u9577\u306e\u4f38\u3073\u304c\u3086\u3063\u304f\u308a\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%99%BA%E9%81%94%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u767a\u9054\u3068\u795e\u7d4c\u5b66\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u304a\u5b50\u69d8\u306b\u4f55\u3089\u304b\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\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\u306f\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>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c:<br>\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u304c\u5e73\u5747\u3088\u308a\u9045\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u304a\u5b50\u69d8\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c:<br>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5b66\u7fd2\u3084\u8a00\u8449\u306e\u7406\u89e3\u306b\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u30da\u30fc\u30b9\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u3001\u8a00\u8449\u3092\u8a71\u3059\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u306e\u304c\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u69cb\u9020\u5909\u5316:<br>MRI\u691c\u67fb\u306a\u3069\u3067\u3001\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u300c\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u300d\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u6b20\u640d\u3057\u3066\u3044\u308b\u306a\u3069\u306e\u6240\u898b\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1\"><\/span><strong>3. \u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u8a3a\u65ad\u306e\u30d2\u30f3\u30c8\u306b\u306a\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u76ee\u304c\u5c11\u3057\u96e2\u308c\u3066\u3044\u308b\uff08\u773c\u9593\u958b\u96e2\uff09<\/li>\n\n\n\n<li>\u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3001\u307e\u305f\u306f\u4e0a\u304c\u3063\u3066\u3044\u308b<\/li>\n\n\n\n<li>\u9f3b\u306e\u4ed8\u3051\u6839\uff08\u9f3b\u6839\uff09\u304c\u4f4e\u304f\u5e73\u5766<\/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\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55:<\/strong> \u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u95a2\u7bc0\u304c\u901a\u5e38\u3088\u308a\u5927\u304d\u304f\u66f2\u304c\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u306e\u75c7\u72b6:<\/strong> \u659c\u8996\uff08\u8996\u7dda\u304c\u305a\u308c\u308b\uff09\u3001\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u4e71\u8996\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u751f\u307e\u308c\u3064\u304d\u5fc3\u81d3\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u624b\u8853\u7b49\u3067\u7ba1\u7406\u53ef\u80fd\u3067\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\u81ea\u5206\u3092\u8cac\u3081\u306a\u3044\u305f\u3081\u306b\u3001\u6b63\u3057\u3044\u539f\u56e0\u3092\u77e5\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%AF%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%80%8D\"><\/span><strong>\u307b\u3068\u3093\u3069\u306f\u300c\u7a81\u7136\u5909\u7570\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>6q15-q23\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u5909\u7570\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\u3067\u3001\u5076\u7136\u306b\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u3067\u306f\u3042\u308a\u307e\u305b\u3093:<\/strong> \u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093:<\/strong> \u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3001\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u751f\u6d3b\u7fd2\u6163\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u9632\u3050\u65b9\u6cd5\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%9A%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7\"><\/span><strong>\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff1a\u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\uff08\u6570\uff05\u4ee5\u4e0b\uff09\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u304d\u3093\u3053\u3046\u304c\u305f\u3066\u3093\u3056\uff09\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u8840\u6db2\u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u203b\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u76f8\u8ac7\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u901a\u5e38\u306e\u767a\u9054\u5065\u8a3a\u3084\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\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>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u3053\u306e\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u3001DNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3084\u91cd\u8907\u3092\u691c\u51fa\u3067\u304d\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u8a3a\u65ad\u306e\u4e3b\u6d41\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u300c6\u756a\u67d3\u8272\u4f53\u306e\u3007\u3007\u756a\u5730\u304b\u3089\u3007\u3007\u756a\u5730\u307e\u3067\u304c\u306a\u3044\u300d\u3068\u3044\u3046\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%88%E4%BB%96%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E5%8C%BA%E5%88%A5%EF%BC%89\"><\/span><strong>2. \u9451\u5225\u8a3a\u65ad\uff08\u4ed6\u306e\u75c5\u6c17\u3068\u306e\u533a\u5225\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u6700\u521d\u306f\u300cPrader-Willi\u75c7\u5019\u7fa4\u300d\u3092\u7591\u3063\u3066\u691c\u67fb\uff08\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u306a\u3069\uff09\u3092\u884c\u3044\u3001\u305d\u308c\u304c\u300c\u9670\u6027\uff08\u9055\u3046\uff09\u300d\u3060\u3063\u305f\u5f8c\u306b\u3001\u3055\u3089\u306b\u8a73\u3057\u304f\u8abf\u3079\u3066\u3053\u306e6q\u6b20\u5931\u304c\u898b\u3064\u304b\u308b\u3001\u3068\u3044\u3046\u7d4c\u7def\u3092\u305f\u3069\u308b\u60a3\u8005\u3055\u3093\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306e\u4e00\u3064\u3072\u3068\u3064\u306b\u5bfe\u5fdc\u3059\u308b\u6cbb\u7642\u3084\u7642\u80b2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306eQOL\uff08\u751f\u6d3b\u306e\u8cea\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_%E8%82%A5%E6%BA%80%E3%81%A8%E6%A0%84%E9%A4%8A%E3%81%AE%E7%AE%A1%E7%90%86%EF%BC%88%E9%9D%9E%E5%B8%B8%E3%81%AB%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>1. \u80a5\u6e80\u3068\u6804\u990a\u306e\u7ba1\u7406\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>6q16\u9818\u57df\uff08SIM1\u907a\u4f1d\u5b50\uff09\u306e\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u306e\u4f53\u91cd\u7ba1\u7406\u304c\u30ab\u30ae\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong> \u98df\u3079\u7269\u3092\u81ea\u7531\u306b\u898b\u3048\u308b\u5834\u6240\u306b\u7f6e\u304b\u306a\u3044\u3001\u6c7a\u307e\u3063\u305f\u6642\u9593\u306b\u6c7a\u307e\u3063\u305f\u91cf\u3092\u98df\u3079\u308b\u7fd2\u6163\u3092\u3064\u3051\u308b\u306a\u3069\u3001\u3054\u5bb6\u65cf\u5168\u54e1\u3067\u306e\u5354\u529b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u6307\u5c0e:<\/strong> \u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3001\u30ab\u30ed\u30ea\u30fc\u5bc6\u5ea6\u3092\u6291\u3048\u3064\u3064\u6e80\u8db3\u611f\u306e\u3042\u308b\u98df\u4e8b\u30e1\u30cb\u30e5\u30fc\u3092\u8003\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u79d1\u306e\u30d5\u30a9\u30ed\u30fc:<\/strong> \u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u30db\u30eb\u30e2\u30f3\u306e\u72b6\u614b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u6cbb\u7642\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%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. \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\u3068\u4f53\u306e\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306b\u3001\u5c02\u9580\u5bb6\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5 (PT):<br>\u4f4e\u7dca\u5f35\u304c\u3042\u308b\u5834\u5408\u3001\u4f53\u306e\u4e2d\u5fc3\uff08\u4f53\u5e79\uff09\u3092\u935b\u3048\u3001\u5ea7\u308b\u30fb\u6b69\u304f\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u3092\u4fc3\u3057\u307e\u3059\u3002\u30a4\u30f3\u30bd\u30fc\u30eb\uff08\u9774\u306e\u4e2d\u6577\u304d\uff09\u3092\u4f5c\u3063\u3066\u6b69\u884c\u3092\u5b89\u5b9a\u3055\u305b\u308b\u3053\u3068\u3082\u3042\u308a\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\u904a\u3073\u3084\u7740\u66ff\u3048\u3001\u98df\u4e8b\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002\u611f\u899a\u904a\u3073\u3092\u901a\u3058\u3066\u3001\u81ea\u5206\u306e\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<br>\u8a00\u8449\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u4fc3\u3057\u307e\u3059\u3002\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\uff08\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\uff09\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u4ee3\u66ff\u624b\u6bb5\u3092\u4f7f\u3046\u7df4\u7fd2\u3082\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\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_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E5%AE%9A%E6%9C%9F%E3%83%81%E3%82%A7%E3%83%83%E3%82%AF\"><\/span><strong>3. \u5408\u4f75\u75c7\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u691c\u8a3a:<\/strong> \u659c\u8996\u3084\u5f31\u8996\u306f\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong> \u5074\u5f2f\uff08\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff09\u306a\u3069\u304c\u8d77\u304d\u3066\u3044\u306a\u3044\u304b\u3001\u6210\u9577\u671f\u306b\u306f\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u79d1:<\/strong> \u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u306a\u3044\u304b\u6ce8\u610f\u6df1\u304f\u89b3\u5bdf\u3057\u3001\u7591\u308f\u3057\u3044\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%95%99%E8%82%B2%E3%81%A8%E7%A6%8F%E7%A5%89%E3%82%B5%E3%83%BC%E3%83%93%E3%82%B9%E3%81%AE%E6%B4%BB%E7%94%A8\"><\/span><strong>4. \u6559\u80b2\u3068\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u6d3b\u7528<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\u624b\u5e33:<\/strong> \u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u53d6\u5f97\u3059\u308b\u3053\u3068\u3067\u69d8\u3005\u306a\u798f\u7949\u30b5\u30fc\u30d3\u30b9\uff08\u7279\u5225\u5150\u7ae5\u6276\u990a\u624b\u5f53\u3001\u969c\u5bb3\u5150\u798f\u7949\u624b\u5f53\u3001\u901a\u6240\u65bd\u8a2d\u306e\u5229\u7528\u306a\u3069\uff09\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c31\u5b66\u76f8\u8ac7:<\/strong> \u5730\u57df\u306e\u5b66\u6821\u306e\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u304a\u5b50\u69d8\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u3066\u4e01\u5be7\u306b\u6307\u5c0e\u3057\u3066\u304f\u308c\u308b\u74b0\u5883\u3092\u9078\u3073\u307e\u3059\u3002\u5c11\u4eba\u6570\u3067\u306e\u6559\u80b2\u306f\u3001\u304a\u5b50\u69d8\u306e\u81ea\u4fe1\u3092\u80b2\u3080\u4e0a\u3067\u975e\u5e38\u306b\u6709\u52b9\u3067\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\/23477200_s-1.webp\" alt=\"\u30cf\u30fc\u30c8\" class=\"wp-image-121573\"\/><\/figure><\/div>\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<ul class=\"wp-block-list\">\n<li><strong>6q15-q23\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u30016\u756a\u67d3\u8272\u4f53\u4e2d\u9593\u90e8\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\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066Prader-Willi\u69d8\u306e\u7279\u5fb4\uff08\u904e\u98df\u30fb\u80a5\u6e80\u50be\u5411\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad<\/strong>\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bfe\u7b56<\/strong>\u3068\u3057\u3066\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3068\u3001\u98df\u6b32\u30fb\u4f53\u91cd\u306e\u9069\u5207\u306a\u7ba1\u7406\u304c\u5c06\u6765\u306e\u5065\u5eb7\u3092\u5b88\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%EF%BC%9A%E7%84%A6%E3%82%89%E3%81%9A%E3%80%81%E3%81%9D%E3%81%AE%E5%AD%90%E3%81%AE%E3%80%8C%E4%BB%8A%E3%80%8D%E3%82%92%E8%A6%8B%E3%81%A6\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u7126\u3089\u305a\u3001\u305d\u306e\u5b50\u306e\u300c\u4eca\u300d\u3092\u898b\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u76f4\u5f8c\u306f\u3001\u300c\u5c06\u6765\u3069\u3046\u306a\u3063\u3066\u3057\u307e\u3046\u3093\u3060\u308d\u3046\u300d\u3068\u3044\u3046\u4e0d\u5b89\u3067\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u7279\u306b\u300c\u80a5\u6e80\u306e\u30ea\u30b9\u30af\u300d\u3084\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u300d\u3068\u3044\u3063\u305f\u8a00\u8449\u306f\u3001\u91cd\u304f\u306e\u3057\u304b\u304b\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u899a\u3048\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001\u533b\u5b66\u66f8\u306b\u66f8\u304b\u308c\u3066\u3044\u308b\u75c7\u72b6\u304c\u3059\u3079\u3066\u306e\u304a\u5b50\u69d8\u306b\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u3042\u304f\u307e\u3067\u305d\u306e\u5b50\u306e\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u5168\u3066\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u53ef\u80fd\u6027\u3092\u4fe1\u3058\u3066<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u3092\u6301\u3064\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u3086\u3063\u304f\u308a\u3067\u306f\u3042\u3063\u3066\u3082\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>\u300c\u6b69\u3051\u305f\u300d\u300c\u76ee\u304c\u5408\u3063\u305f\u300d\u300c\u7b11\u3063\u305f\u300d\u3002\u305d\u3093\u306a\u5c0f\u3055\u306a\u4e00\u6b69\u4e00\u6b69\u3092\u3001\u3054\u5bb6\u65cf\u3067\u76db\u5927\u306b\u795d\u3063\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002\u305d\u306e\u7a4d\u307f\u91cd\u306d\u304c\u3001\u304a\u5b50\u69d8\u306e\u751f\u304d\u308b\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067<\/p>\n\n\n\n<p>\u98df\u6b32\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306a\u3069\u306f\u3001\u3054\u5bb6\u65cf\u3060\u3051\u306e\u52aa\u529b\u3067\u306f\u9650\u754c\u304c\u3042\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u6804\u990a\u58eb\u3001\u30bb\u30e9\u30d4\u30b9\u30c8\u3001\u305d\u3057\u3066\u5730\u57df\u306e\u4fdd\u5065\u5e2b\u3002\u5468\u308a\u306b\u306f\u305f\u304f\u3055\u3093\u306e\u5c02\u9580\u5bb6\u304c\u3044\u307e\u3059\u3002\u300c\u98df\u3079\u308b\u306e\u3092\u6b62\u3081\u3089\u308c\u306a\u304f\u3066\u8f9b\u3044\u300d\u300c\u3069\u3046\u5bfe\u5fdc\u3057\u3066\u3044\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3001\u6b63\u76f4\u306b\u52a9\u3051\u3092\u6c42\u3081\u3066\u304f\u3060\u3055\u3044\u3002\u30c1\u30fc\u30e0\u3067\u304a\u5b50\u69d8\u3092\u652f\u3048\u308b\u4f53\u5236\u3092\u4f5c\u308b\u3053\u3068\u304c\u3001\u89aa\u5fa1\u3055\u3093\u306e\u5fc3\u306e\u5065\u5eb7\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306f\u3001\u8a3a\u65ad\u540d\u3067\u3042\u308b\u524d\u306b\u3001\u3042\u306a\u305f\u306e\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u611b\u3057\u3044\u6211\u304c\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7b11\u9854\u3092\u5b88\u308b\u305f\u3081\u306b\u3001\u4eca\u65e5\u304b\u3089\u3067\u304d\u308b\u3053\u3068\u3092\u4e00\u3064\u305a\u3064\u3001\u7126\u3089\u305a\u306b\u9032\u3081\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c6q15-q23\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116895,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121621","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\/121621","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121621"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121621\/revisions"}],"predecessor-version":[{"id":121623,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121621\/revisions\/121623"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116895"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121621"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121621"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121621"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}