{"id":121663,"date":"2026-01-07T15:46:13","date_gmt":"2026-01-07T06:46:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121663"},"modified":"2026-07-23T06:27:38","modified_gmt":"2026-07-22T21:27:38","slug":"chromosome-6q26-q27-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/","title":{"rendered":"6q26-q27\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>\u300c6q26-q27\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\u8a00\u3044\u3088\u3046\u306e\u306a\u3044\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\u306e\u672b\u7aef\u306b\u8fd1\u30446q26\u304b\u3089q27\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\u3066\u3093\u304b\u3093\u306b\u52a0\u3048\u3066\u3001\u8133\u3084\u810a\u9ac4\u306e\u69cb\u9020\u7684\u306a\u7279\u5fb4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u304c\u3001\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\u3068\u305d\u306e\u983b\u5ea6\u306e\u76ee\u5b89\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>6q26-q27\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3042\u308f\u305b\u3066\u89e3\u8aac<\/li>\n<li>\u795e\u7d4c\u5b66\u7684\u7279\u5fb4\u30fb\u8133\u3084\u810a\u9ac4\u306e\u69cb\u9020\u7570\u5e38\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u306a\u3069\u3001\u4e3b\u306a\u75c7\u72b6\u3068\u5831\u544a\u983b\u5ea6\u306e\u76ee\u5b89<\/li>\n<li>\u30c7\u30ce\u30dc\uff08\u7a81\u7136\u5909\u7570\uff09\u3068\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u3001\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u5f62\u5f0f\u3068\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff<\/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\u3066\u3093\u304b\u3093\u30fb\u810a\u9ac4\u4fc2\u7559\u306a\u3069\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 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>\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-6q26-q27-deletion-syndrome-guide\/#%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%9ADLL1%E3%83%BBPRKN%E3%83%BBQKI\" >\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\uff1aDLL1\u30fbPRKN\u30fbQKI<\/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-6q26-q27-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-6q26-q27-deletion-syndrome-guide\/#%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%EF%BC%89\" >\u795e\u7d4c\u5b66\u7684\u7279\u5fb4\uff08\u6700\u3082\u91cd\u8981\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/#%E8%84%B3%E3%81%A8%E8%84%8A%E9%AB%84%E3%81%AE%E6%A7%8B%E9%80%A0%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >\u8133\u3068\u810a\u9ac4\u306e\u69cb\u9020\u7684\u306a\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-6q26-q27-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\" >\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061<\/a><\/li><li class='ez-toc-page-1 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class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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><\/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-6q26-q27-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-6q26-q27-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-6q26-q27-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-6q26-q27-deletion-syndrome-guide\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u753b\u50cf\u691c\u67fb\uff08MRI\uff09\u306e\u91cd\u8981\u6027<\/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-6q26-q27-deletion-syndrome-guide\/#%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\" >\u8133\u6ce2\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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-6q26-q27-deletion-syndrome-guide\/#%E7%A5%9E%E7%B5%8C%E3%83%BB%E8%84%B3%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E7%AE%A1%E7%90%86\" >\u795e\u7d4c\u30fb\u8133\u5916\u79d1\u7684\u306a\u7ba1\u7406<\/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-6q26-q27-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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/#%E5%AE%9A%E6%9C%9F%E7%9A%84%E3%81%AA%E5%85%A8%E8%BA%AB%E3%83%81%E3%82%A7%E3%83%83%E3%82%AF\" >\u5b9a\u671f\u7684\u306a\u5168\u8eab\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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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%E5%BF%83%E6%A7%8B%E3%81%88\" >8. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u5fc3\u69cb\u3048<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/#6q26-q27%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\" >6q26-q27\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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-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-6q26-q27-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-6q26-q27-deletion-syndrome-guide\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3066\u3093\u304b\u3093\u306f\u6cbb\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-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/#%E5%B0%86%E6%9D%A5%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E8%87%AA%E7%AB%8B%E3%81%A7%E3%81%8D%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5c06\u6765\u3069\u306e\u7a0b\u5ea6\u81ea\u7acb\u3067\u304d\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_6q26-q27%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. 6q26-q27\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>6q26-q27\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\u672b\u7aef\u306b\u8fd1\u304426\u756a\u5730\u304b\u308927\u756a\u5730\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>27\u756a\u306f6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u3067\u307b\u307c\u4e00\u756a\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u30d0\u30f3\u30c9\u3067\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u300c6q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\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&#038;Expert=75857\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u306b\u306f\u300c6q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u300d(ORPHA:75857)\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>26-27\uff08\u9818\u57df\uff09:<\/strong> \u9577\u8155\u306e\u5148\u7aef\u90e8\u5206\u306b\u3042\u308b\u30d0\u30f3\u30c9\uff08\u533a\u753b\uff09\u306e\u756a\u53f7\u3067\u3059\u300227\u756a\u306f\u67d3\u8272\u4f53\u306e\u307b\u307c\u4e00\u756a\u7aef\u306b\u4f4d\u7f6e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion\uff08\u6b20\u5931\uff09:<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%9ADLL1%E3%83%BBPRKN%E3%83%BBQKI\"><\/span><strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\uff1aDLL1\u30fbPRKN\u30fbQKI<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\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\u7d42\u308f\u308a\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\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u7814\u7a76\u306b\u3088\u308a\u3001\u5931\u308f\u308c\u308b\u30da\u30fc\u30b8\u306e\u300c\u3069\u3053\u306b\u300d\u91cd\u8981\u306a\u6307\u793a\u304c\u66f8\u304b\u308c\u3066\u3044\u308b\u304b\u304c\u3001\u5c11\u3057\u305a\u3064\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u9818\u57df<\/th><th>\u4e3b\u306a\u907a\u4f1d\u5b50<\/th><th>\u95a2\u9023\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u3053\u3068<\/th><\/tr><\/thead><tbody><tr><td>6q27\uff08\u6700\u3082\u672b\u7aef\u5074\uff09<\/td><td>DLL1\u30fbTBP<\/td><td>\u8133\u6881\u6b20\u640d\u30fb\u6c34\u982d\u75c7\u30fb\u810a\u9ac4\u4fc2\u7559\u306a\u3069\u3001\u8133\u3084\u810a\u9ac4\u306e<strong>\u69cb\u9020\u7684\u306a\u7570\u5e38<\/strong>\u3068\u306e\u95a2\u9023\u304c\u6700\u3082\u5f37\u3044\u3068\u3055\u308c\u308b\u9818\u57df<\/td><\/tr><tr><td>6q26\uff0827\u756a\u5730\u3088\u308a\u3084\u3084\u4e2d\u5fc3\u5074\uff09<\/td><td>PRKN\uff08PARK2\uff09\u30fbQKI<\/td><td>\u795e\u7d4c\u767a\u9054\u3084\u884c\u52d5\u9762\u3078\u306e\u95a2\u4e0e\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u308b\u9818\u57df\u3002PRKN\u306f\u5c06\u6765\u7684\u306a\u904b\u52d5\u6a5f\u80fd\u3001QKI\u306f\u795e\u7d4c\u7d30\u80de\u306e\u50cd\u304d\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u907a\u4f1d\u5b50\u7814\u7a76\u306e\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9192176\/\" target=\"_blank\" rel=\"noopener\">\uff086q26-q27\u6b20\u5931\u306e\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u95a2\u9023\u3092\u307e\u3068\u3081\u305f\u5831\u544a\uff09<\/a>\u306b\u3088\u308b\u3068\u3001<strong>\u8133\u6881\u6b20\u640d\u3084\u6c34\u982d\u75c7\u3001\u810a\u9ac4\u4fc2\u7559\u3068\u3044\u3063\u305f\u69cb\u9020\u7684\u306a\u7570\u5e38\u306f\u3001\u6700\u3082\u672b\u7aef\u5074\u306e6q27\u306b\u3042\u308bDLL1\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u4e3b\u306a\u539f\u56e0<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u30016q26\u306b\u3042\u308bPRKN\u30fbQKI\u907a\u4f1d\u5b50\u306f\u3001\u7814\u7a76\u6bb5\u968e\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u5c06\u6765\u306e\u904b\u52d5\u6a5f\u80fd\u3084\u884c\u52d5\u30fb\u795e\u7d4c\u767a\u9054\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u304a\u308a\u3001\u5fc5\u305a\u4f55\u3089\u304b\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u6c7a\u307e\u3063\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u5b50\u3055\u307e\u306e\u4f53\u306e\u4ed6\u306e\u90e8\u5206\u3088\u308a\u3082\u3001\u8133\u795e\u7d4c\u7cfb\u306b\u75c7\u72b6\u304c\u51fa\u3084\u3059\u3044\u306e\u306f\u3001\u3053\u3046\u3057\u305f\u907a\u4f1d\u5b50\u306e\u6027\u8cea\u306b\u3088\u308b\u3082\u306e\u3067\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\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u795e\u7d4c\u5b66\u7684\u306a\u7279\u5fb4\u3068\u3001\u8133\u30fb\u810a\u9ac4\u306e\u69cb\u9020\u7684\u306a\u7570\u5e38\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>36\u4f8b\u306e\u60a3\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3067\u306f\u3001\u75c7\u72b6\u306e\u983b\u5ea6\u304c\u6b21\u306e\u3088\u3046\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6<\/th><th>\u5831\u544a\u3055\u308c\u305f\u983b\u5ea6\u306e\u76ee\u5b89<\/th><\/tr><\/thead><tbody><tr><td>\u767a\u9054\u306e\u9045\u308c\u30fb\u77e5\u7684\u767a\u9054\u75c7<\/td><td>\u7d048\u5272<\/td><\/tr><tr><td>\u8133\u306e\u69cb\u9020\u7684\u306a\u7570\u5e38<\/td><td>\u7d047\u5272\uff08\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u5168\u4f8b\uff09<\/td><\/tr><tr><td>\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061<\/td><td>\u7d047\u5272<\/td><\/tr><tr><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09<\/td><td>\u7d046\u5272<\/td><\/tr><tr><td>\u5b66\u7fd2\u30fb\u8a00\u8a9e\u306e\u9045\u308c<\/td><td>\u7d045\u5272<\/td><\/tr><tr><td>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/td><td>\u7d045\u5272<\/td><\/tr><tr><td>\u810a\u690e\u30fb\u810a\u9ac4\u306e\u5f62\u6210\u7570\u5e38<\/td><td>\u7d043\u5272<\/td><\/tr><tr><td>\u5c0f\u982d\u75c7\u30fb\u6c34\u982d\u75c7<\/td><td>\u305d\u308c\u305e\u308c\u7d042\u5272<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u7279\u5fb4\uff08\u6700\u3082\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u4e2d\u5fc3\u7684\u306a\u8ab2\u984c\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u3001\u795e\u7d4c\u7cfb\u306e\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\uff08\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff09:<br>\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3084\u3001\u8a00\u8449\u306e\u7406\u89e3\u30fb\u767a\u8a9e\u306a\u3069\u306e\u77e5\u7684\u767a\u9054\u304c\u3001\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u30da\u30fc\u30b9\u3067\u9032\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09:<br>\u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u3044\u308b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\uff08\u767a\u4f5c\uff09:<br>\u5831\u544a\u4f8b\u306e\u7d04\u534a\u6570\u3067\u3001\u4e73\u5e7c\u5150\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u304c\u3001\u8133\u6ce2\u691c\u67fb\u3068\u6295\u85ac\u306b\u3088\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u6d77\u5916\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\u306a\u3069\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u767a\u4f5c\u304c\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u305f\u4f8b\u3082\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E3%81%A8%E8%84%8A%E9%AB%84%E3%81%AE%E6%A7%8B%E9%80%A0%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>\u8133\u3068\u810a\u9ac4\u306e\u69cb\u9020\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MRI\u691c\u67fb\u306a\u3069\u3067\u767a\u898b\u3055\u308c\u308b\u3001\u4f53\u306e\u4e2d\u306e\u5f62\u306e\u5909\u5316\u3067\u3059\u3002DLL1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u304c\u6df1\u3044\u3001\u3053\u306e\u9818\u57df\u7279\u6709\u306e\u75c7\u72b6\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u306e\u69cb\u9020\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u306e\u7570\u5e38:<\/strong> \u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u6a4b\u306e\u3088\u3046\u306a\u90e8\u5206\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u6210\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6c34\u982d\u75c7:<\/strong> \u8133\u5ba4\u304c\u62e1\u5927\u3057\u3001\u6c34\u304c\u305f\u307e\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u5c0f\u8133\u56de\uff08\u305f\u3057\u3087\u3046\u306e\u3046\u304b\u3044\uff09\u30fb\u5c0f\u8133\u306e\u5f62\u6210\u4e0d\u5168:<\/strong> \u8133\u306e\u30b7\u30ef\u304c\u7d30\u304b\u304f\u591a\u3059\u304e\u308b\u5f62\u6210\u7570\u5e38\u3084\u3001\u5c0f\u8133\u304c\u5341\u5206\u306b\u767a\u9054\u3057\u3066\u3044\u306a\u3044\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u810a\u9ac4\u306e\u7570\u5e38\uff08\u91cd\u8981\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u810a\u9ac4\u4fc2\u7559\uff08\u305b\u304d\u305a\u3044\u3051\u3044\u308a\u3085\u3046\uff09\u75c7\u5019\u7fa4:<\/strong> \u810a\u9ac4\u306e\u4e0b\u7aef\u304c\u5468\u56f2\u306e\u7d44\u7e54\u306b\u304f\u3063\u3064\u3044\u3066\u5f15\u3063\u5f35\u3089\u308c\u3066\u3057\u307e\u3046\u72b6\u614b\u3002<\/li>\n\n\n\n<li>\u810a\u9ac4\u7a7a\u6d1e\u75c7\uff08\u305b\u304d\u305a\u3044\u304f\u3046\u3069\u3046\u3057\u3087\u3046\uff09: \u810a\u9ac4\u306e\u4e2d\u306b\u6c34\u306e\u305f\u307e\u308b\u7a7a\u6d1e\u304c\u3067\u304d\u308b\u72b6\u614b\u3002<br>\u203b\u3053\u308c\u3089\u306f6q26-q27\u6b20\u5931\uff08\u7279\u306b6q27\u5074\uff09\u306e\u7279\u5fb4\u7684\u306a\u5408\u4f75\u75c7\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u75c7\u72b6\u304c\u51fa\u3066\u3044\u306a\u304f\u3066\u3082\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\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\u500b\u6027\u306e\u7bc4\u56f2\u306b\u843d\u3061\u7740\u304f\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>\u9f3b\u306e\u4ed8\u3051\u6839\uff08\u9f3b\u6839\uff09\u304c\u5e45\u5e83\u304f\u5e73\u5766\u3067\u3001\u9f3b\u5148\u304c\u4e38\u307f\u3092\u5e2f\u3073\u308b<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u307e\u305f\u306f\u8033\u306e\u5f62\u304c\u5927\u304d\u3044<\/li>\n\n\n\n<li>\u53e3\u89d2\u304c\u3084\u3084\u4e0b\u304c\u3063\u3066\u898b\u3048\u308b<\/li>\n\n\n\n<li>\u984e\u304c\u5c0f\u3055\u3044\u3001\u9996\u304c\u77ed\u3044<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u306e\u75c7\u72b6:<\/strong> \u7db2\u819c\u306e\u7570\u5e38\u3001\u659c\u8996\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\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55:<\/strong> \u95a2\u7bc0\u304c\u67d4\u3089\u304b\u304f\u3001\u53ef\u52d5\u57df\u304c\u5e83\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p>\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\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307e\u308c\u308b\u90e8\u5206\u3067\u3059\u304c\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3064\u3053\u3068\u3067\u3001\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>\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\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u7aef\u306e\u90e8\u5206\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>\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093:<\/strong> \u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u3001\u98df\u3079\u305f\u3082\u306e\u3001\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\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>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u3092\u8abf\u3079\u3089\u308c\u305f\u75c7\u4f8b\u3092\u5bfe\u8c61\u306b\u3057\u305f\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3067\u306f\u3001\u7d046\u5272\u304c\u30c7\u30ce\u30dc\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3001\u6b8b\u308a\u306e\u4e00\u90e8\u306f\u4f55\u3089\u304b\u306e\u5f62\u3067\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u4e00\u90e8\u306b\u3042\u305f\u308b\u306e\u304c\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\u3067\u3059\u3002\u3054\u672c\u4eba\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u4e0d\u5747\u8861\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u203b\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u76f8\u8ac7\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<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>6q26-q27\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<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u542b\u3080\u691c\u67fb\u3067\u805e\u304d\u6163\u308c\u306a\u3044\u9818\u57df\u304c\u5019\u88dc\u306b\u3042\u304c\u3063\u305f\u304a\u5ba2\u69d8\u304b\u3089\u3001\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\u306e\u7d50\u679c\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8133\u5ba4\u62e1\u5927\u3084\u8133\u6881\u306e\u7570\u5e38\u306a\u3069\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\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\u3059\u308b\u3053\u3068\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\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\u7279\u5fb4\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\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\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u5fc5\u9808\u3068\u8a00\u3048\u307e\u3059\u3002\u901a\u5e38\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001q26-q27\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u7aef\u306e\u65b9\u306b\u3042\u308b\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\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\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u3092\u6b63\u78ba\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%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u753b\u50cf\u691c\u67fb\uff08MRI\uff09\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5f8c\u3001\u3042\u308b\u3044\u306f\u8a3a\u65ad\u306e\u904e\u7a0b\u3067\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u975e\u5e38\u306b\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u6881\u306e\u5f62\u3084\u3001\u6c34\u982d\u75c7\u30fb\u5c0f\u8133\u306e\u5f62\u6210\u4e0d\u5168\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u690eMRI:<\/strong> <strong>\u3053\u3053\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong> \u75c7\u72b6\u304c\u51fa\u3066\u3044\u306a\u304f\u3066\u3082\u3001\u810a\u9ac4\u4fc2\u7559\u3084\u810a\u9ac4\u7a7a\u6d1e\u75c7\u304c\u96a0\u308c\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u3001\u80cc\u9aa8\uff08\u810a\u9ac4\uff09\u306eMRI\u3092\u64ae\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8133\u6ce2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u3001\u3042\u308b\u3044\u306f\u767a\u4f5c\u306e\u3088\u3046\u306a\u52d5\u304d\u304c\u3042\u3063\u305f\u5834\u5408\u306b\u3001\u8133\u306e\u96fb\u6c17\u6d3b\u52d5\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33336776_s-1.webp\" alt=\"\u533b\u5e2b\u304c\u5bb6\u65cf\u306b\u691c\u67fb\u7d50\u679c\u3092\u8aac\u660e\u3057\u3066\u3044\u308b\u69d8\u5b50\" class=\"wp-image-121537\"\/><\/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>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u300c\u6839\u672c\u6cbb\u7642\u300d\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u300c\u75c7\u72b6\u3078\u306e\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u300c\u7642\u80b2\u300d\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E3%83%BB%E8%84%B3%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E7%AE%A1%E7%90%86\"><\/span><strong>\u795e\u7d4c\u30fb\u8133\u5916\u79d1\u7684\u306a\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u3067\u306f\u3001\u533b\u5b66\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u975e\u5e38\u306b\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u6cbb\u7642:<br>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u670d\u7528\u3057\u3001\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u81ea\u5206\u306b\u5408\u3046\u85ac\u3092\u898b\u3064\u3051\u308b\u305f\u3081\u306b\u3001\u4f55\u5ea6\u304b\u8abf\u6574\u304c\u5fc5\u8981\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u795e\u7d4c\u5916\u79d1\u7684\u5bfe\u5fdc:<br>\u3082\u3057\u6c34\u982d\u75c7\u3084\u810a\u9ac4\u4fc2\u7559\u75c7\u5019\u7fa4\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u306a\u3069\u306e\u51e6\u7f6e\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u3067\u3001\u9ebb\u75fa\u306a\u3069\u306e\u5f8c\u907a\u75c7\u3092\u9632\u3052\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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\u53ef\u5851\u6027\uff08\u5909\u5316\u3057\u9069\u5fdc\u3059\u308b\u529b\uff09\u304c\u9ad8\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u95a2\u308f\u308a\u304c\u3001\u767a\u9054\u3092\u4fc3\u3057\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\u4f53\u306e\u4e2d\u5fc3\uff08\u4f53\u5e79\uff09\u3092\u3057\u3063\u304b\u308a\u3055\u305b\u3001\u5ea7\u308b\u30fb\u7acb\u3064\u30fb\u6b69\u304f\u306a\u3069\u306e\u904b\u52d5\u6a5f\u80fd\u3092\u9ad8\u3081\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\u305f\u308a\u3001\u611f\u899a\u904a\u3073\u3092\u901a\u3058\u3066\u8133\u306e\u767a\u9054\u3092\u4fc3\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<br>\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u98f2\u307f\u8fbc\u307f\uff08\u56a5\u4e0b\uff09\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u306e\u98df\u4e8b\u6307\u5c0e\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%9A%E6%9C%9F%E7%9A%84%E3%81%AA%E5%85%A8%E8%BA%AB%E3%83%81%E3%82%A7%E3%83%83%E3%82%AF\"><\/span><strong>\u5b9a\u671f\u7684\u306a\u5168\u8eab\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> \u8996\u529b\u3084\u7db2\u819c\u306e\u72b6\u614b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5faa\u74b0\u5668\u691c\u8a3a:<\/strong> \u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u5b9a\u671f\u7684\u306b\u30a8\u30b3\u30fc\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=\"%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>\u5c31\u5b66\u306b\u95a2\u3057\u3066\u306f\u3001\u5730\u57df\u306e\u6559\u80b2\u59d4\u54e1\u4f1a\u3084\u5c02\u9580\u5bb6\u3068\u76f8\u8ac7\u3057\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\uff08\u533b\u7642\u7684\u30b1\u30a2\u306e\u6709\u7121\u3001\u79fb\u52d5\u306e\u81ea\u7acb\u5ea6\u3001\u77e5\u7684\u306a\u7406\u89e3\u5ea6\uff09\u306b\u5408\u308f\u305b\u305f\u74b0\u5883\u3092\u9078\u3073\u307e\u3059\u3002\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u5c11\u4eba\u6570\u3067\u624b\u539a\u3044\u30b5\u30dd\u30fc\u30c8\u304c\u53d7\u3051\u3089\u308c\u308b\u74b0\u5883\u304c\u9069\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u591a\u3044\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\u3001\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><\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\uff08DLL1\u304c\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306a\u3069\uff09\u3084\u3001\u810a\u9ac4\u4fc2\u7559\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\u3066\u3093\u304b\u3093\u306e\u767a\u4f5c\u304c\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u3066\u3044\u308b\u304b\u3001\u810a\u9ac4\u306e\u554f\u984c\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u5fc5\u8981\u306a\u51e6\u7f6e\u306b\u3064\u306a\u3052\u3089\u308c\u305f\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%E5%BF%83%E6%A7%8B%E3%81%88\"><\/span><strong>8. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u5fc3\u69cb\u3048<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>6q26-q27\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u767a\u4f5c\u300d\u3078\u306e\u5099\u3048:<br>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u3001\u767a\u4f5c\u304c\u8d77\u304d\u305f\u6642\u306e\u5bfe\u5fdc\uff08\u6642\u9593\u3092\u8a08\u308b\u3001\u52d5\u753b\u3092\u64ae\u308b\u3001\u5ea7\u85ac\u3092\u5165\u308c\u308b\u306a\u3069\uff09\u3092\u4e3b\u6cbb\u533b\u3068\u78ba\u8a8d\u3057\u3001\u5bb6\u65cf\u3084\u5b66\u6821\u3068\u5171\u6709\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4fbf\u79d8\u306e\u30b1\u30a2:<br>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u810a\u9ac4\u306e\u554f\u984c\u306b\u95a2\u9023\u3057\u3066\u3001\u4fbf\u79d8\u306b\u306a\u308a\u3084\u3059\u3044\u304a\u5b50\u69d8\u304c\u591a\u3044\u3067\u3059\u3002\u6c34\u5206\u6442\u53d6\u3001\u304a\u8179\u306e\u30de\u30c3\u30b5\u30fc\u30b8\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u85ac\u3092\u4f7f\u3063\u3066\u3001\u30ea\u30ba\u30e0\u3088\u304f\u6392\u6cc4\u3067\u304d\u308b\u3088\u3046\u306b\u30b1\u30a2\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u300c\u3067\u304d\u305f\u300d\u306e\u57fa\u6e96\u3092\u5909\u3048\u308b:<br>\u6bcd\u5b50\u624b\u5e33\u306e\u6708\u9f62\u3068\u6bd4\u3079\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u300c\u534a\u5e74\u524d\u306f\u3067\u304d\u306a\u304b\u3063\u305f\u3051\u3069\u3001\u4eca\u306f\u3053\u308c\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u300d\u3068\u3044\u3046\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u7e26\u8ef8\u306e\u6210\u9577\u3092\u898b\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\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\u307e\u305f\u3001\u304a\u9854\u7acb\u3061\u306e\u7279\u5fb4\u3060\u3051\u3067\u767a\u9054\u3092\u5224\u65ad\u3059\u3079\u304d\u3067\u306f\u306a\u3044\u7406\u7531\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-facial-features-facts\/\">\u77e5\u7684\u969c\u5bb3\u306f\u9854\u3064\u304d\u3067\u308f\u304b\u308b\uff1f\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\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-6q25-qter-deletion-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">6q25-qter\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f536q25-qter\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\u5c0f\u982d\u75c7\u3001\u773c\u306e\u7279\u6027\u306a\u3069\uff09\u3001\u539f\u56e0\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u305d\u3057\u3066\u65e5\u3005\u306e\u30b1...<\/div>\n      <\/div>\n    <\/a>\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-6q15-q23-deletion-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">6q15-q23\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f536q15-q23\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u3078\u3002Prader-Willi\u75c7\u5019\u7fa4\u306b\u4f3c\u305f\u7279\u5fb4\uff08\u904e\u98df\u30fb\u80a5\u6e80\uff09\u3084SIM1\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\u3001\u767a\u9054\u306e\u7279\u5fb4...<\/div>\n      <\/div>\n    <\/a>\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>6q26-q27\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u4ed8\u8fd1\u306e\u6b20\u5931\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\uff08\u7d048\u5272\uff09\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u7d046\u5272\uff09\u3001\u3066\u3093\u304b\u3093\uff08\u7d045\u5272\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u6709\u306e\u30ea\u30b9\u30af<\/strong>\u3068\u3057\u3066\u30016q27\u5074\u306eDLL1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u8133\u6881\u6b20\u640d\u306a\u3069\uff09\u3084\u3001\u810a\u9ac4\u306e\u7570\u5e38\uff08\u4fc2\u7559\u306a\u3069\uff09\u304c\u3042\u308b\u305f\u3081\u3001\u982d\u90e8\u30fb\u810a\u690e\u306eMRI\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u90e8\u306f\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u3066\u3093\u304b\u3093\u7b49\u306e\u533b\u5b66\u7684\u7ba1\u7406\u3068\u3001\u65e9\u671f\u7642\u80b2\uff08PT, OT, ST\uff09\u306e\u4e21\u8f2a\u3067\u9032\u3081\u3066\u3044\u304d\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\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3070\u304b\u308a\u306e\u4eca\u3001\u672a\u6765\u304c\u898b\u3048\u306a\u3044\u6697\u95c7\u306e\u4e2d\u306b\u3044\u308b\u3088\u3046\u306a\u6c17\u6301\u3061\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u7279\u306b\u300c\u8133\u306e\u7570\u5e38\u300d\u3084\u300c\u810a\u9ac4\u306e\u554f\u984c\u300d\u3068\u3044\u3046\u8a00\u8449\u306f\u3001\u89aa\u5fa1\u3055\u3093\u306e\u5fc3\u3092\u5f37\u304f\u7de0\u3081\u4ed8\u3051\u308b\u3082\u306e\u3060\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001MRI\u306e\u753b\u50cf\u3084\u67d3\u8272\u4f53\u306e\u691c\u67fb\u7d50\u679c\u304c\u3001\u304a\u5b50\u69d8\u306e\u3059\u3079\u3066\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>6q26-q27\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u533b\u5b66\u7684\u306a\u8ab2\u984c\u3092\u62b1\u3048\u306a\u304c\u3089\u3082\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3092\u898b\u305b\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306e\u58f0\u306b\u53cd\u5fdc\u3057\u3066\u5fae\u7b11\u3080\u9854\u3001\u597d\u304d\u306a\u62b1\u3063\u3053\u306e\u4ed5\u65b9\u3067\u843d\u3061\u7740\u304f\u69d8\u5b50\u3001\u4e00\u751f\u61f8\u547d\u306b\u4f55\u304b\u3092\u4f1d\u3048\u3088\u3046\u3068\u3059\u308b\u59ff\u3002\u305d\u306e\u4e00\u3064\u3072\u3068\u3064\u304c\u3001\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u300c\u305d\u306e\u5b50\u306e\u771f\u5b9f\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u3084\u8133\u795e\u7d4c\u5916\u79d1\u533b\u306a\u3069\u3001\u5c02\u9580\u533b\u3068\u306e\u9023\u643a\u304c\u5927\u5207\u306b\u306a\u308a\u307e\u3059\u3002\u4e0d\u5b89\u306a\u3053\u3068\u3001\u5bb6\u3067\u306e\u69d8\u5b50\u3067\u6c17\u306b\u306a\u308b\u3053\u3068\u306f\u3001\u4e9b\u7d30\u306a\u3053\u3068\u3067\u3082\u533b\u5e2b\u306b\u4f1d\u3048\u3066\u304f\u3060\u3055\u3044\u3002\u89aa\u5fa1\u3055\u3093\u306e\u300c\u306a\u3093\u3068\u306a\u304f\u5909\u3060\u306a\u300d\u3068\u3044\u3046\u52d8\u306f\u3001\u6642\u306b\u691c\u67fb\u6570\u5024\u4ee5\u4e0a\u306b\u91cd\u8981\u306a\u60c5\u5831\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306b\u3001\u8fd1\u6240\u306b\u540c\u3058\u75c5\u6c17\u306e\u53cb\u9054\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u4eca\u306fSNS\u3084\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u300c6q\u30d5\u30a1\u30df\u30ea\u30fc\u300d\u3068\u7e4b\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u300cChromosome 6q deletion\u300d\u306a\u3069\u306e\u30bf\u30b0\u3067\u691c\u7d22\u3059\u308b\u3068\u3001\u6d77\u5916\u306e\u5bb6\u65cf\u306e\u65e5\u5e38\u304c\u898b\u3089\u308c\u3001\u52c7\u6c17\u3092\u3082\u3089\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u65e5\u306e\u304a\u5b50\u69d8\u306e\u7b11\u9854\u3092\u5b88\u308b\u3053\u3068\u304c\u3001\u660e\u65e5\u3078\u306e\u4e00\u756a\u306e\u6e96\u5099\u3067\u3059\u3002\u79c1\u305f\u3061\u533b\u7642\u30fb\u798f\u7949\u306e\u5c02\u9580\u5bb6\u3082\u3001\u305d\u306e\u9577\u3044\u65c5\u8def\u3092\u5168\u529b\u3067\u30b5\u30dd\u30fc\u30c8\u3057\u307e\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=\"6q26-q27%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>6q26-q27\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\u672b\u7aef\u306b\u8fd1\u30446q26\u304b\u3089q27\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\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u3001\u8133\u3084\u810a\u9ac4\u306e\u69cb\u9020\u7684\u306a\u7570\u5e38\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=\"%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 class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3067\u306f\u7d046\u5272\u304c\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u3068\u3055\u308c\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u6b8b\u308a\u306e\u4e00\u90e8\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3064\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u3053\u306e\u5834\u5408\u306f\u518d\u767a\u30ea\u30b9\u30af\u306e\u8003\u3048\u65b9\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u78ba\u8a8d\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"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\"><\/span>NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067\u3053\u306e\u75be\u60a3\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<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\u3053\u306e\u9818\u57df\u3092\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u306e\u305f\u3081\u3001\u7591\u308f\u3057\u3044\u6240\u898b\u304c\u3042\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u306e\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\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" 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