{"id":121656,"date":"2026-01-07T15:42:45","date_gmt":"2026-01-07T06:42:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121656"},"modified":"2026-07-24T05:21:19","modified_gmt":"2026-07-23T20:21:19","slug":"chromosome-6q25-qter-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/","title":{"rendered":"6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>\u300c6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e25\u756a\u5730\u304b\u3089\u672b\u7aef\uff08qter\uff09\u306b\u304b\u3051\u3066\u306e\u9818\u57df\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u767a\u9054\u306e\u9045\u308c\u3084\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u306b\u52a0\u3048\u3066\u3001\u7db2\u819c\u3084\u8996\u795e\u7d4c\u306a\u3069\u773c\u306e\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u3088\u304f\u5831\u544a\u3055\u308c\u308b\u70b9\u304c\u3001\u3053\u306e\u7bc4\u56f2\u306e\u6b20\u5931\u306e\u7279\u5fb4\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u75c7\u72b6\u306e\u91cd\u3055\u3084\u7d44\u307f\u5408\u308f\u305b\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\u304b\u3089\u3001\u4e3b\u306a\u75c7\u72b6\u306e\u50be\u5411\u3001\u907a\u4f1d\u5f62\u5f0f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3001\u8a3a\u65ad\u304b\u3089\u6cbb\u7642\u3001\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u307e\u3067\u3092\u3001\u516c\u7684\u6a5f\u95a2\u3068\u5b66\u8853\u8ad6\u6587\u306e\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002\u4e00\u3064\u305a\u3064\u3001\u9806\u756a\u306b\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b\u3001\u540d\u524d\u306e\u8aad\u307f\u89e3\u304d\u65b9\u3068\u3042\u308f\u305b\u3066\u89e3\u8aac<\/li>\n<li>\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u773c\u306e\u75c7\u72b6\u306a\u3069\u3001\u4e3b\u306a\u75c7\u72b6\u306e\u5168\u4f53\u50cf<\/li>\n<li>\u30c7\u30ce\u30dc\uff08\u7a81\u7136\u5909\u7570\uff09\u3068\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u3001\u74b0\u72b6\u67d3\u8272\u4f53\u3001\u305d\u308c\u305e\u308c\u306e\u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u9818\u57df\u304c\u5bfe\u8c61\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3068\u306a\u3089\u306a\u3044\u30b1\u30fc\u30b9<\/li>\n<li>\u78ba\u5b9a\u8a3a\u65ad\u307e\u3067\u306e\u691c\u67fb\u306e\u6d41\u308c\u3068\u3001\u773c\u79d1\u30fb\u795e\u7d4c\u5b66\u7684\u306a\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u65b9\u6cd5<\/li>\n<li>\u3054\u5bb6\u65cf\u304c\u65e5\u3005\u306e\u751f\u6d3b\u3067\u5fc3\u304c\u3051\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3068\u3001\u983c\u308c\u308b\u652f\u63f4\u5148<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 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-6q25-qter-deletion-syndrome-guide\/#1_6q25-qter%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%89\" >1. 6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\uff09<\/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-6q25-qter-deletion-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E6%B7%B7%E5%90%8C%E3%81%97%E3%82%84%E3%81%99%E3%81%84%E3%80%8C%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%97%85%E6%B0%97%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >\u6df7\u540c\u3057\u3084\u3059\u3044\u300c\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u300d\u3068\u306e\u9055\u3044<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >2. \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-6q25-qter-deletion-syndrome-guide\/#%E6%88%90%E9%95%B7%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u6210\u9577\u3068\u767a\u9054\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E7%9C%BC%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%81%93%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%A7%E7%89%B9%E3%81%AB%E6%B3%A8%E6%84%8F%E3%81%97%E3%81%9F%E3%81%84%E7%82%B9%EF%BC%89\" >\u773c\u306e\u75c7\u72b6\uff08\u3053\u306e\u7bc4\u56f2\u306e\u6b20\u5931\u3067\u7279\u306b\u6ce8\u610f\u3057\u305f\u3044\u70b9\uff09<\/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-6q25-qter-deletion-syndrome-guide\/#%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%97%87%E7%8A%B6\" >\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3068\u795e\u7d4c\u5b66\u7684\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\" >3. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%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\" >\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\/chromosome-6q25-qter-deletion-syndrome-guide\/#%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\" >\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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%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\" >\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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#4_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >4. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#5_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\" >5. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u6d41\u308c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\" >\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\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-6q25-qter-deletion-syndrome-guide\/#%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB%EF%BC%88%E5%BF%85%E9%A0%88%EF%BC%89\" >\u773c\u79d1\u691c\u67fb\uff08\u5fc5\u9808\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-6q25-qter-deletion-syndrome-guide\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E5%BF%83%E8%87%93%E8%B6%85%E9%9F%B3%E6%B3%A2\" >\u753b\u50cf\u691c\u67fb\u30fb\u5fc3\u81d3\u8d85\u97f3\u6ce2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#6_%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\" >6. \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\/chromosome-6q25-qter-deletion-syndrome-guide\/#%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\" >\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%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\" >\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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83\" >\u6559\u80b2\u3068\u751f\u6d3b\u74b0\u5883<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#7_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\" >7. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#8_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E3%81%94%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\" >8. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-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%AF%E3%81%B2%E3%81%A8%E3%82%8A%E3%81%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u3042\u306a\u305f\u306f\u3072\u3068\u308a\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#6q25-qter%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E3%80%8C6q252q253%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u300c6q25.2q25.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u8d77\u3053\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A7%E3%81%93%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067\u3053\u306e\u75be\u60a3\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/#%E7%9C%BC%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%AB%E3%81%AF%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u773c\u306e\u75c7\u72b6\u306b\u306f\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_6q25-qter%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%89\"><\/span><strong>1. 6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>6q25-qter\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\u306b\u3042\u308b25\u756a\u5730\u304b\u3089\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\u306e\u4e00\u756a\u7aef\uff09\u307e\u3067\u306e\u9818\u57df\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u672b\u7aef\u307e\u3067\u5931\u308f\u308c\u308b\u6b20\u5931\u306f\u300c\u7d42\u7aef\u6b20\u5931\uff08\u672b\u7aef\u6b20\u5931\uff09\u300d\u3068\u547c\u3070\u308c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u300c6q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u7dcf\u79f0\u3055\u308c\u308b\u4e00\u7fa4\u306b\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b27\u5dde\u306e\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=GB&amp;Expert=75857\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u306b\u306f\u300c6q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u300d\uff08ORPHA:75857\uff09\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u304a\u308a\u3001\u4e16\u754c\u7684\u306a\u70b9\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u3055\u308c\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u304c\u904b\u55b6\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/18931\/6q-terminal-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD<\/a>\u3067\u3082\u540c\u69d8\u306b\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u8a9e\u3067\u306e\u75c7\u4f8b\u5831\u544a\u306f\u975e\u5e38\u306b\u5c11\u306a\u304f\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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\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\uff086\u756a\u67d3\u8272\u4f53\uff09:<\/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\uff08\u9577\u8155\uff09:<\/strong> \u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u4eca\u56de\u306f\u9577\u3044\u65b9\u306e\u8155\u306b\u5909\u5316\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>25\uff08\u958b\u59cb\u70b9\uff09:<\/strong> \u9577\u8155\u306e\u300c\u30d0\u30f3\u30c9\u300d\u3068\u547c\u3070\u308c\u308b\u533a\u753b\u306e25\u756a\u5730\u304b\u3089\u5909\u5316\u304c\u59cb\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ter\uff08\u672b\u7aef\uff09:<\/strong> \u300cTerminal\uff08\u30bf\u30fc\u30df\u30ca\u30eb\uff09\u300d\u306e\u7565\u3067\u3001\u67d3\u8272\u4f53\u306e\u4e00\u756a\u7aef\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3064\u307e\u308a25\u756a\u5730\u304b\u3089\u5148\u306e\u907a\u4f1d\u60c5\u5831\u304c\u3059\u3079\u3066\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\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<p>\u67d3\u8272\u4f53\u3092\u4f53\u306e\u300c\u8a2d\u8a08\u56f3\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u8a2d\u8a08\u56f3\u306e\u7b2c6\u5dfb\u306e\u6700\u5f8c\u306e\u6570\u30da\u30fc\u30b8\u304c\u7834\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u30fb\u9854\u306e\u5f62\u6210\u30fb\u773c\u306e\u6a5f\u80fd\u306a\u3069\u306b\u95a2\u308f\u308b\u6307\u793a\uff08\u907a\u4f1d\u5b50\uff09\u304c\u66f8\u304b\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u6307\u793a\u304c\u8aad\u3081\u306a\u3044\u305f\u3081\u306b\u69d8\u3005\u306a\u8eab\u4f53\u7684\u30fb\u767a\u9054\u7684\u306a\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B7%B7%E5%90%8C%E3%81%97%E3%82%84%E3%81%99%E3%81%84%E3%80%8C%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%97%85%E6%B0%97%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>\u6df7\u540c\u3057\u3084\u3059\u3044\u300c\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u300d\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u8abf\u3079\u308b\u969b\u306b\u6ce8\u610f\u3057\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u304c\u3001\u540d\u524d\u304c\u4f3c\u305f\u5225\u306e\u75be\u60a3\u3067\u3059\u3002<strong>\u300c6q25.2q25.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u300d\uff08ORPHA:251056\uff09\u306f\u3001ARID1B\u907a\u4f1d\u5b50\u3092\u542b\u3080\u3054\u304f\u9650\u3089\u308c\u305f\u7bc4\u56f2\u3060\u3051\u304c\u5931\u308f\u308c\u308b\u300c\u4ecb\u5728\u6027\uff08\u4e2d\u9593\u90e8\uff09\u6b20\u5931\u300d\u3067\u3001\u672b\u7aef\uff08qter\uff09\u307e\u3067\u306f\u5931\u308f\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u4eca\u56de\u306e6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u306e\u50be\u5411\u3082\u7570\u306a\u308b\u3001\u5225\u306e\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b20\u5931\u7bc4\u56f2\uff08qter\u307e\u3067\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\uff09\u3092\u78ba\u8a8d\u3057\u3001\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u306b\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u907a\u4f1d\u5b50\u7814\u7a76\u306e\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/16329114\/\" target=\"_blank\" rel=\"noopener\">\uff08Bertini et al., 2006\uff09<\/a>\u3067\u306f\u30016q26\u4ed8\u8fd1\u3092\u5207\u65ad\u70b9\u3068\u3059\u308b\u672b\u7aef\u6b20\u5931\u306e\u75c7\u4f8b\u3092\u307e\u3068\u3081\u3066\u300c6q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u5171\u901a\u306e\u8868\u73fe\u578b\uff08\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u3051\u3044\u308c\u3093\u30fb\u77ed\u9838\u30fb\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff09\u304c\u6d6e\u304b\u3073\u4e0a\u304c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u30026q25-qter\u306f\u3053\u308c\u3088\u308a\u3084\u3084\u5e83\u3044\u7bc4\u56f2\uff0825\u756a\u5730\u304b\u3089\uff09\u304c\u5931\u308f\u308c\u308b\u305f\u3081\u3001\u540c\u3058\u50be\u5411\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3066\u3001\u5f8c\u8ff0\u3059\u308b\u773c\u306e\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u76ee\u7acb\u3064\u50be\u5411\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=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u304c\u3001\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u773c\u306e\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u3088\u304f\u5831\u544a\u3055\u308c\u307e\u3059\u3002<\/strong>\u3059\u3079\u3066\u306e\u304a\u5b50\u69d8\u306b\u4ee5\u4e0b\u306e\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u51fa\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001GARD\u30fbOrphanet\u3084\u8907\u6570\u306e\u75c7\u4f8b\u5831\u544a\u3067\u5171\u901a\u3057\u3066\u8a00\u53ca\u3055\u308c\u308b\u7279\u5fb4\u3092\u6574\u7406\u3059\u308b\u3068\u3001\u6b21\u306e\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u5206\u985e<\/th><th>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u6210\u9577\u30fb\u767a\u9054<\/td><td>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3001\u80ce\u5185\u767a\u80b2\u4e0d\u5168\u30fb\u51fa\u751f\u5f8c\u306e\u6210\u9577\u306e\u7de9\u3084\u304b\u3055\u3001\u5c0f\u982d\u75c7<\/td><\/tr><tr><td>\u9854\u7acb\u3061<\/td><td>\u9f3b\u6839\u90e8\u306e\u5e73\u5766\u30fb\u5e45\u5e83\u3001\u53e3\u5143\u304c\u300c\u3078\u306e\u5b57\u300d\u306b\u8fd1\u3044\u5f62\u3001\u8033\u306e\u4f4d\u7f6e\u306e\u4f4e\u3055\u3001\u77ed\u9838<\/td><\/tr><tr><td>\u773c\u306e\u75c7\u72b6<\/td><td>\u7db2\u819c\u306e\u5f62\u6210\u4e0d\u5168\u3001\u8996\u795e\u7d4c\u306e\u7570\u5e38\u3001\u659c\u8996\u3001\u773c\u632f\u3001\u5c48\u6298\u7570\u5e38\uff08\u8fd1\u8996\u30fb\u9060\u8996\uff09<\/td><\/tr><tr><td>\u795e\u7d4c\u5b66\u7684\u75c7\u72b6<\/td><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u8133\u6881\u306e\u83f2\u8584\u5316\u30fb\u6b20\u640d\u306a\u3069\u306e\u8133\u69cb\u9020\u306e\u5909\u5316\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c<\/td><\/tr><tr><td>\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/td><td>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\u306e\u5fc3\u75be\u60a3\u3001\u624b\u6307\u306e\u77ed\u3055\u3084\u95a2\u7bc0\u306e\u904e\u4f38\u5c55<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\u6210\u9577\u3068\u767a\u9054\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u5fc3\u914d\u3055\u308c\u308b\u90e8\u5206\u3060\u3068\u601d\u3044\u307e\u3059\u3002\u9996\u306e\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u30cf\u30a4\u30cf\u30a4\u30fb\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3084\u3001\u8a00\u8449\u306e\u7406\u89e3\u30fb\u767a\u8a9e\uff08\u53d7\u5bb9\u8a00\u8a9e\u30fb\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u3001\u4e00\u822c\u7684\u306a\u5e73\u5747\u3088\u308a\u3086\u3063\u304f\u308a\u3057\u305f\u30da\u30fc\u30b9\u3067\u9032\u3080\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u3088\u308a\u3082\u805e\u3044\u3066\u7406\u89e3\u3059\u308b\u3053\u3068\u306e\u65b9\u304c\u5f97\u610f\u306a\u50be\u5411\u306b\u3042\u308b\u304a\u5b50\u69d8\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u982d\u306e\u5468\u56f2\u304c\u5e73\u5747\u3088\u308a\u5c0f\u3055\u3081\u3067\u3042\u308b\u5c0f\u982d\u75c7\u3082\u3001\u3053\u306e\u672b\u7aef\u6b20\u5931\u30bf\u30a4\u30d7\u3067\u306f\u6bd4\u8f03\u7684\u3088\u304f\u898b\u3089\u308c\u308b\u7279\u5fb4\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%81%93%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%A7%E7%89%B9%E3%81%AB%E6%B3%A8%E6%84%8F%E3%81%97%E3%81%9F%E3%81%84%E7%82%B9%EF%BC%89\"><\/span><strong>\u773c\u306e\u75c7\u72b6\uff08\u3053\u306e\u7bc4\u56f2\u306e\u6b20\u5931\u3067\u7279\u306b\u6ce8\u610f\u3057\u305f\u3044\u70b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>6q25-qter\u306e\u6b20\u5931\u3067\u306f\u3001\u773c\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>distal 6q\u6b20\u5931\u3092\u5bfe\u8c61\u3068\u3057\u305f\u75c7\u4f8b\u5831\u544a<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/2405671\/\" target=\"_blank\" rel=\"noopener\">\uff08McLeod et al., 1990\uff09<\/a>\u3067\u3082\u3001\u7db2\u819c\u306e\u7570\u5e38\u304c\u3053\u306e\u7bc4\u56f2\u306e\u6b20\u5931\u3068\u95a2\u9023\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7db2\u819c\u306e\u7570\u5e38:<\/strong> \u7db2\u819c\u306e\u5f62\u6210\u4e0d\u5168\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u795e\u7d4c\u306e\u7570\u5e38:<\/strong> \u8996\u795e\u7d4c\u4e73\u982d\u306e\u304f\u307c\u307f\u3084\u3001\u8996\u795e\u7d4c\u306e\u4f4e\u5f62\u6210\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6: \u659c\u8996\uff08\u8996\u7dda\u304c\u305a\u308c\u308b\uff09\u3001\u773c\u632f\uff08\u76ee\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b\uff09\u3001\u8fd1\u8996\u30fb\u9060\u8996\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u773c\u306e\u75c7\u72b6\u306f\u898b\u305f\u76ee\u3067\u306f\u6c17\u3065\u304d\u306b\u304f\u3044\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u65e9\u671f\u306b\u773c\u79d1\u5c02\u9580\u533b\u306b\u3088\u308b\u30c1\u30a7\u30c3\u30af\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%A8%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%97%87%E7%8A%B6\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3068\u795e\u7d4c\u5b66\u7684\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c6q\u672b\u7aef\u6b20\u5931\u300d\u7279\u6709\u306e\u304a\u9854\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u9f3b\u306e\u4ed8\u3051\u6839\uff08\u9f3b\u6839\uff09\u304c\u5e45\u5e83\u304f\u5e73\u5766\u3067\u3042\u308b\u3053\u3068\u3001\u53e3\u5143\u304c\u300c\u3078\u306e\u5b57\u300d\u306b\u8fd1\u3044\u5f62\uff08tented upper lip\uff09\u306b\u898b\u3048\u308b\u3053\u3068\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u30fb\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684\u3067\u3042\u308b\u3053\u3068\u3001\u9996\u304c\u77ed\u3044\u3053\u3068\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u500b\u6027\u306e\u7bc4\u56f2\u306b\u843d\u3061\u7740\u304f\u3053\u3068\u3082\u591a\u3044\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u5b66\u7684\u306b\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u62b1\u3063\u3053\u3059\u308b\u3068\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u3044\u308b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09\u304c\u3088\u304f\u898b\u3089\u308c\u3001\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u95a2\u9023\u3057\u307e\u3059\u3002\u982d\u90e8MRI\u691c\u67fb\u3067\u3001\u5de6\u53f3\u306e\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\u3068\u3044\u3063\u305f\u6240\u898b\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u304a\u5b50\u69d8\u3067\u306f\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\u306e\u5fc3\u75be\u60a3\u3084\u3001\u624b\u6307\u306e\u77ed\u3055\u30fb\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\u3068\u3044\u3063\u305f\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u77e5\u7684\u767a\u9054\u306e\u7279\u6027\u3084\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\">\u6570\u5b57\u3067\u898b\u308bNIPT\u3068\u77e5\u7684\u969c\u5bb3\u306e\u8a18\u4e8b<\/a>\u3067\u3082\u3001\u67d3\u8272\u4f53\u75be\u60a3\u5168\u4f53\u306e\u50be\u5411\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\"><\/span><strong>3. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5927\u591a\u6570\u306f\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u3067\u8d77\u3053\u308a\u3001\u3054\u4e21\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u5fc3\u3092\u75db\u3081\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u90e8\u5206\u3067\u3059\u304c\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3064\u3053\u3068\u3067\u4e0d\u5fc5\u8981\u306a\u81ea\u5206\u8cac\u3081\u3092\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>6q25-qter\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\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\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3001\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u4ed5\u4e8b\u3001\u751f\u6d3b\u74b0\u5883\u306a\u3069\u306f\u4e00\u5207\u95a2\u4fc2\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\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\u5747\u8861\u578b\u8ee2\u5ea7\u306f\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u907a\u4f1d\u60c5\u5831\u306e\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001\u3054\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u3001\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\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30c7\u30ce\u30dc\u3067\u3042\u308c\u3070\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u5747\u8861\u578b\u8ee2\u5ea7\u304c\u80cc\u666f\u306b\u3042\u308b\u5834\u5408\u306f\u518d\u767a\u30ea\u30b9\u30af\u306e\u8003\u3048\u65b9\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u8a8d\u3059\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=\"%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>\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>\u307e\u308c\u306b\u30016\u756a\u67d3\u8272\u4f53\u306e\u4e21\u7aef\u304c\u5207\u308c\u3066\u304f\u3063\u3064\u304d\u3001\u30ea\u30f3\u30b0\u72b6\u306b\u306a\u308b\uff08Ring chromosome 6\uff09\u3053\u3068\u3067\u3001\u672b\u7aef\u90e8\u5206\uff08qter\uff09\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3082\u75c7\u72b6\u306f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u30ea\u30f3\u30b0\u7279\u6709\u306e\u7d30\u80de\u5206\u88c2\u306e\u4e0d\u5b89\u5b9a\u3055\u304c\u52a0\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>4. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>6q25-qter\u9818\u57df\u306f\u3001\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\uff0821\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u4e2d\u5fc3\uff09\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u3001\u5bfe\u8c61\u3068\u3059\u308b\u9818\u57df\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u3053\u306e\u9818\u57df\u3092\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u4e8b\u524d\u306e\u78ba\u8a8d\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u62e1\u5927\u691c\u67fb\u3067\u805e\u304d\u6163\u308c\u306a\u3044\u9818\u57df\u304c\u5019\u88dc\u306b\u3042\u304c\u3063\u305f\u304a\u5ba2\u69d8\u304b\u3089\u3054\u76f8\u8ac7\u3092\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u77e5\u3063\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd<\/a>\u3067\u3082\u3001NIPT\u304c\u5bfe\u8c61\u3068\u3057\u3066\u3044\u308b\u306e\u306f13\u756a\u30fb18\u756a\u30fb21\u756a\u306e\u6570\u7684\u7570\u5e38\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u691c\u67fb\u306f\u6307\u91dd\u306e\u5bfe\u8c61\u5916\u3067\u3042\u308b\u3053\u3068\u304c\u660e\u8a18\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5c0f\u982d\u75c7\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3057\u3046\u308b\u6240\u898b\u304c\u6307\u6458\u3055\u308c\u305f\u5834\u5408\u3082\u3001\u305d\u308c\u3060\u3051\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002\u3042\u308f\u3066\u3066\u7d50\u8ad6\u3092\u51fa\u3055\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7d50\u679c\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u306a\u304c\u3089\u3001\u4e00\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>5. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u306e\u9045\u308c\u3084\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/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\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\u300c6\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\u3042\u308f\u305b\u3066\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u30c7\u30ce\u30dc\u306a\u306e\u304b\u3001\u5747\u8861\u578b\u8ee2\u5ea7\u306b\u3088\u308b\u907a\u4f1d\u306a\u306e\u304b\u3092\u5224\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB%EF%BC%88%E5%BF%85%E9%A0%88%EF%BC%89\"><\/span><strong>\u773c\u79d1\u691c\u67fb\uff08\u5fc5\u9808\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u3053\u306e\u7bc4\u56f2\u306e\u6b20\u5931\u3067\u306f\u773c\u306e\u5408\u4f75\u75c7\u306e\u5831\u544a\u304c\u6bd4\u8f03\u7684\u591a\u3044\u305f\u3081\u3001\u8996\u529b\u691c\u67fb\u3060\u3051\u3067\u306a\u304f\u3001\u773c\u5e95\u691c\u67fb\u306a\u3069\u3067\u7db2\u819c\u3084\u8996\u795e\u7d4c\u306e\u72b6\u614b\u3092\u8a73\u3057\u304f\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/strong>\u6c17\u3065\u304b\u308c\u306b\u304f\u3044\u75c7\u72b6\u306e\u305f\u3081\u3001\u8a3a\u65ad\u5f8c\u306f\u65e9\u3044\u6bb5\u968e\u3067\u773c\u79d1\u5c02\u9580\u533b\u306e\u53d7\u8a3a\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E5%BF%83%E8%87%93%E8%B6%85%E9%9F%B3%E6%B3%A2\"><\/span><strong>\u753b\u50cf\u691c\u67fb\u30fb\u5fc3\u81d3\u8d85\u97f3\u6ce2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u6881\u306e\u72b6\u614b\u3084\u3001\u8133\u306e\u30b7\u30ef\u306e\u5f62\u6210\u5177\u5408\u306a\u3069\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09:<\/strong> \u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/32627722_s.webp\" alt=\"\u533b\u8005\u304c\u5bb6\u65cf\u306b\u691c\u67fb\u7d50\u679c\u3092\u8aac\u660e\u3057\u3066\u3044\u308b\u69d8\u5b50\" class=\"wp-image-119511\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%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>6. \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><strong>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u90e8\u5206\u3092\u5fa9\u5143\u3059\u308b\u6839\u672c\u6cbb\u7642\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u30b1\u30a2\u3092\u884c\u3044\u3001\u304a\u5b50\u69d8\u306e\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\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=\"%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>\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\u306e\u67d4\u8edf\u6027\u304c\u9ad8\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u52b9\u679c\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5 (PT):<br>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u7b4b\u8089\u3092\u80b2\u3066\u3001\u5bdd\u8fd4\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u6a5f\u80fd\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5 (OT):<br>\u624b\u5148\u306e\u64cd\u4f5c\uff08\u304a\u3082\u3061\u3083\u3092\u63b4\u3080\u3001\u7a4d\u307f\u6728\u3092\u7a4d\u3080\uff09\u3084\u3001\u98df\u4e8b\u30fb\u7740\u66ff\u3048\u306a\u3069\u306e\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>\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\u30b5\u30a4\u30f3\uff08\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\uff09\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u4ee3\u66ff\u624b\u6bb5\u3092\u4f7f\u3063\u3066\u300c\u4f1d\u3048\u308b\u559c\u3073\u300d\u3092\u6559\u3048\u307e\u3059\u3002\u98df\u3079\u308b\u6a5f\u80fd\uff08\u6442\u98df\u56a5\u4e0b\uff09\u306e\u8a13\u7df4\u3082\u3042\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E5%8C%BB%E7%99%82%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u533b\u7642\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong> \u30e1\u30ac\u30cd\u306b\u3088\u308b\u8996\u529b\u77ef\u6b63\u3084\u3001\u659c\u8996\u306e\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002\u8996\u899a\u652f\u63f4\uff08\u898b\u3084\u3059\u3044\u6559\u6750\u306e\u4f7f\u7528\u306a\u3069\uff09\u3082\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u79d1:<\/strong> \u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5faa\u74b0\u5668\u79d1:<\/strong> \u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u7d4c\u904e\u89b3\u5bdf\u3084\u624b\u8853\u306a\u3069\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=\"%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83\"><\/span><strong>\u6559\u80b2\u3068\u751f\u6d3b\u74b0\u5883<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u9577\u306b\u4f34\u3044\u3001\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\u304a\u5b50\u69d8\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u3066\u4e01\u5be7\u306b\u6307\u5c0e\u3057\u3066\u304f\u308c\u308b\u6559\u80b2\u74b0\u5883\u3092\u9078\u3073\u307e\u3059\u3002\u300c\u3067\u304d\u306a\u3044\u3053\u3068\u300d\u3092\u7121\u7406\u306b\u3055\u305b\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u300c\u3069\u3046\u3084\u3063\u305f\u3089\u3067\u304d\u308b\u304b\u300d\u3092\u4e00\u7dd2\u306b\u8003\u3048\u3001\u81ea\u4fe1\u3092\u3064\u3051\u3055\u305b\u3066\u3042\u3052\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>7. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u306e\u9045\u308c\u304c\u76ee\u7acb\u305f\u306a\u3044\u65b9\u304b\u3089\u533b\u7642\u7684\u30b1\u30a2\u304c\u9577\u304f\u5fc5\u8981\u306a\u65b9\u307e\u3067\u5e45\u304c\u3042\u308a\u3001\u65ad\u5b9a\u7684\u306a\u4e88\u5f8c\u3092\u793a\u3059\u3053\u3068\u306f\u73fe\u6642\u70b9\u306e\u7814\u7a76\u3067\u306f\u56f0\u96e3\u3067\u3059\u3002<\/strong>\u75c7\u4f8b\u5831\u544a\u306e\u6570\u81ea\u4f53\u304c\u5c11\u306a\u304f\u3001\u5927\u898f\u6a21\u306a\u7d71\u8a08\u30c7\u30fc\u30bf\u306f\u307e\u3060\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u3001\u773c\u79d1\u7684\u306a\u5408\u4f75\u75c7\u30fb\u3066\u3093\u304b\u3093\u3078\u306e\u5bfe\u5fdc\u306e\u65e9\u3055\u306b\u3088\u3063\u3066\u5de6\u53f3\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u773c\u306e\u75c7\u72b6\u306b\u65e9\u671f\u304b\u3089\u6c17\u3065\u304d\u8996\u899a\u652f\u63f4\u306b\u3064\u306a\u3052\u3089\u308c\u305f\u304b\u3001\u3066\u3093\u304b\u3093\u306e\u767a\u4f5c\u304c\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u3066\u3044\u308b\u304b\u304c\u3001\u65e5\u3005\u306e\u751f\u6d3b\u306e\u3057\u3084\u3059\u3055\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002\u9577\u671f\u7684\u306a\u81ea\u7acb\u5ea6\u306f\u3001\u7642\u80b2\u306e\u958b\u59cb\u6642\u671f\u3068\u7a4d\u307f\u91cd\u306d\u306b\u3088\u3063\u3066\u5909\u308f\u3063\u3066\u304f\u308b\u90e8\u5206\u304c\u5927\u304d\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u304a\u5b50\u3055\u307e\u3092\u6301\u3064\u3054\u5bb6\u65cf\u3068\u304a\u8a71\u3057\u3059\u308b\u6a5f\u4f1a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u540c\u3058\u8a3a\u65ad\u540d\u3067\u3082\u6b69\u3080\u7d4c\u904e\u306f\u4e00\u4eba\u3072\u3068\u308a\u9055\u3046\u3068\u5b9f\u611f\u3057\u3066\u3044\u307e\u3059\u3002\u6570\u5024\u3084\u7d71\u8a08\u306f\u3042\u304f\u307e\u3067\u76ee\u5b89\u3068\u3057\u3066\u53d7\u3051\u6b62\u3081\u3001\u76ee\u306e\u524d\u306e\u304a\u5b50\u3055\u307e\u306e\u5909\u5316\u3092\u4e3b\u6cbb\u533b\u3068\u4e00\u7dd2\u306b\u898b\u3066\u3044\u304f\u59ff\u52e2\u304c\u3001\u7d50\u679c\u7684\u306b\u4e00\u756a\u306e\u9053\u3057\u308b\u3079\u306b\u306a\u308b\u3068\u611f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E3%81%94%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>8. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>6q25-qter\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\u8996\u899a\u300d\u3092\u88dc\u3046\u5de5\u592b:<br>\u773c\u306e\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u3001\u7d30\u304b\u3044\u3082\u306e\u304c\u898b\u3048\u306b\u304f\u304b\u3063\u305f\u308a\u3001\u8996\u91ce\u304c\u72ed\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u304a\u3082\u3061\u3083\u3084\u7d75\u672c\u306f\u3001\u30b3\u30f3\u30c8\u30e9\u30b9\u30c8\u304c\u306f\u3063\u304d\u308a\u3057\u305f\u3082\u306e\u3092\u9078\u3093\u3060\u308a\u3001\u8fd1\u3065\u3051\u3066\u898b\u305b\u3066\u3042\u3052\u305f\u308a\u3059\u308b\u3068\u53cd\u5fdc\u304c\u826f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7\u3067\u306e\u8a55\u4fa1:<br>\u6bcd\u5b50\u624b\u5e33\u306e\u767a\u9054\u66f2\u7dda\u3068\u6bd4\u3079\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u300c3\u30f6\u6708\u524d\u306e\u3053\u306e\u5b50\u300d\u3068\u6bd4\u3079\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\u3086\u3063\u304f\u308a\u3067\u3082\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u307e\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\u3072\u304d\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u6d17\u3044\u3084\u3046\u304c\u3044\u3001\u4e88\u9632\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<p>\u8a3a\u65ad\u5f8c\u306e\u7642\u80b2\u3084\u652f\u63f4\u306e\u8003\u3048\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-positive-treatment-therapy-future\/\">NIPT\u967d\u6027\u5f8c\u306e\u672a\u6765\u3002\u77e5\u7684\u969c\u5bb3\u306e\u300c\u6cbb\u7642\u300d\u3068\u300c\u7642\u80b2\u300d\u6700\u524d\u7dda\u306e\u8a18\u4e8b<\/a>\u3067\u3082\u53d6\u308a\u4e0a\u3052\u3066\u3044\u307e\u3059\u3002\u540c\u30586\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u6b20\u5931\u3067\u3082\u3001\u6b20\u3051\u3066\u3044\u308b\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u4e2d\u5fc3\u306f\u5909\u308f\u308a\u307e\u3059\u3002\u8fd1\u304f\u306e\u9818\u57df\u306e\u89e3\u8aac\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f536q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023\u306a\u3069\uff09\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">6q26-q27\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f536q26-q27\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u7279\u5fb4\u3067\u3042\u308b\u8133\u6881\u3084\u810a\u9ac4\u306e\u75c7\u72b6\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u5168\u822c\u306e\u57fa\u790e\u77e5\u8b58\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38\u3068\u306f\uff1f\u306e\u8a18\u4e8b<\/a>\u3001NIPT\u3067\u7591\u3044\u304c\u6307\u6458\u3055\u308c\u305f\u5f8c\u306e\u78ba\u5b9a\u691c\u67fb\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u69d8\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3055\u308c\u308b\u969b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3067\u30d7\u30e9\u30f3\u306e\u5185\u5bb9\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u304a\u8a66\u3057\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--2\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\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<ul class=\"wp-block-list\">\n<li><strong>6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e25\u756a\u5730\u304b\u3089\u672b\u7aef\u304c\u6b20\u3051\u308b\u3053\u3068\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001Orphanet\u306b6q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff08ORPHA:75857\uff09\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u5c0f\u982d\u75c7\u3001\u305d\u3057\u3066<strong>\u3053\u306e\u7bc4\u56f2\u3067\u6bd4\u8f03\u7684\u3088\u304f\u5831\u544a\u3055\u308c\u308b\u773c\u306e\u75c7\u72b6<\/strong>\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\u4e00\u90e8\u306f\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u3084\u74b0\u72b6\u67d3\u8272\u4f53\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad<\/strong>\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u304c\u6709\u52b9\u3067\u3001\u3042\u308f\u305b\u3066\u773c\u79d1\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u773c\u79d1\u7684\u306a\u30b1\u30a2\u3092\u542b\u3080\u5408\u4f75\u75c7\u7ba1\u7406\u3068\u3001\u65e9\u671f\u7642\u80b2\uff08PT\u30fbOT\u30fbST\uff09\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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%AF%E3%81%B2%E3%81%A8%E3%82%8A%E3%81%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u3042\u306a\u305f\u306f\u3072\u3068\u308a\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u77ac\u9593\u3001\u666f\u8272\u304c\u8272\u3092\u5931\u3063\u305f\u3088\u3046\u306b\u611f\u3058\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u300c\u666e\u901a\u300d\u3068\u3044\u3046\u30ec\u30fc\u30eb\u304b\u3089\u5916\u308c\u3066\u3057\u307e\u3063\u305f\u3088\u3046\u306a\u5b64\u72ec\u611f\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3002\u305d\u308c\u306f\u3001\u89aa\u3068\u3057\u3066\u3042\u307e\u308a\u306b\u3082\u81ea\u7136\u306a\u611f\u60c5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u3001\u305d\u306e\u5b50\u306e\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u307b\u3093\u306e\u4e00\u90e8\u306b\u904e\u304e\u307e\u305b\u3093\u30026q25-qter\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\u3061\u3001\u5bb6\u65cf\u3092\u611b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u4eba\u751f\u3092\u697d\u3057\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b11\u9854\u3092\u898b\u305b\u3001\u597d\u304d\u306a\u97f3\u697d\u306b\u4f53\u3092\u63fa\u3089\u3057\u3001\u7f8e\u5473\u3057\u3044\u3082\u306e\u3092\u98df\u3079\u3066\u559c\u3076\u3002\u305d\u3093\u306a\u5b50\u3069\u3082\u3068\u3057\u3066\u306e\u5f53\u305f\u308a\u524d\u306e\u5e78\u305b\u306f\u3001\u75c5\u540d\u306b\u3088\u3063\u3066\u596a\u308f\u308c\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7406\u5b66\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u304a\u5b50\u69d8\u3092\u652f\u3048\u308b\u30d7\u30ed\u30d5\u30a7\u30c3\u30b7\u30e7\u30ca\u30eb\u304c\u3044\u307e\u3059\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3001\u4e0d\u5b89\u306a\u3053\u3068\u306f\u9060\u616e\u306a\u304f\u805e\u3044\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u6bcd\u3055\u3093\u30fb\u304a\u7236\u3055\u3093\u304c\u7b11\u9854\u3067\u3044\u308b\u3053\u3068\u304c\u3001\u304a\u5b50\u69d8\u306b\u3068\u3063\u3066\u4f55\u3088\u308a\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8fd1\u6240\u306b\u540c\u3058\u75c5\u6c17\u306e\u5b50\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3084SNS\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u300c6q deletion\u300d\u306a\u3069\u306e\u30ad\u30fc\u30ef\u30fc\u30c9\u3067\u691c\u7d22\u3059\u308b\u3068\u3001\u6d77\u5916\u306e\u60a3\u8005\u4f1a\u3084\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u4ef2\u9593\u3068\u306e\u4ea4\u6d41\u306f\u3001\u5927\u304d\u306a\u5fc3\u306e\u652f\u3048\u306b\u306a\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6q25-qter%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b25\u756a\u5730\u304b\u3089\u672b\u7aef\uff08qter\uff09\u307e\u3067\u306e\u9818\u57df\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u773c\u306e\u75c7\u72b6\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u304c\u4e2d\u5fc3\u7684\u306a\u7279\u5fb4\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Orphanet\u3067\u306f\u4e16\u754c\u7684\u306a\u70b9\u6709\u75c5\u7387\u304c100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u3055\u308c\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002\u65e5\u672c\u8a9e\u3067\u306e\u75c7\u4f8b\u5831\u544a\u306f\u975e\u5e38\u306b\u5c11\u306a\u304f\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C6q252q253%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u300c6q25.2q25.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u5225\u306e\u75be\u60a3\u3067\u3059\u3002\u300c6q25.2q25.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u300d\uff08ORPHA:251056\uff09\u306fARID1B\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9650\u3089\u308c\u305f\u7bc4\u56f2\u3060\u3051\u304c\u5931\u308f\u308c\u308b\u4ecb\u5728\u6027\u6b20\u5931\u3067\u3001\u672b\u7aef\uff08qter\uff09\u307e\u3067\u306f\u5931\u308f\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u4eca\u56de\u306e6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u306e\u50be\u5411\u3082\u7570\u306a\u308a\u307e\u3059\u3002\u691c\u67fb\u7d50\u679c\u306e\u6b20\u5931\u7bc4\u56f2\u3092\u78ba\u8a8d\u3057\u3001\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u8d77\u3053\u308a\u307e\u3059\u304b\u3002<span 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