{"id":117053,"date":"2025-10-01T12:13:20","date_gmt":"2025-10-01T03:13:20","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=117053"},"modified":"2026-07-23T05:19:54","modified_gmt":"2026-07-22T20:19:54","slug":"chromosome-9p24-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/","title":{"rendered":"9p24.3 \u6b20\u5931\u75c7\u5019\u7fa4\uff089p24.3 Deletion Syndrome\uff09"},"content":{"rendered":"\n<p><strong>\u300c9p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3084\u691c\u67fb\u7d50\u679c\u3092\u76ee\u306b\u3057\u3066\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a00\u8449\u306b\u6238\u60d1\u3063\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\u306f9\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u8155\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c24.3\u300d\u9818\u57df\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u5831\u544a\u4f8b\u304c\u6570\u5341\u4f8b\u898f\u6a21\u306e\u3054\u304f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>DMRT1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u300146,XY\uff08\u67d3\u8272\u4f53\u4e0a\u306f\u7537\u6027\u578b\uff09\u306e\u80ce\u5150\u3067\u6027\u5206\u5316\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u7279\u5fb4\u306e\u4e00\u3064\u3068\u3055\u308c\u3001\u514d\u75ab\u6a5f\u80fd\u3084\u767a\u9054\u9762\u3078\u306e\u5f71\u97ff\u3092\u4f34\u3046\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u96a3\u63a5\u3059\u308b9p22-p23\u9818\u57df\u307e\u3067\u6b20\u5931\u304c\u5e83\u304c\u3063\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3067\u75c7\u72b6\u306e\u4e2d\u5fc3\u304c\u5909\u308f\u308b\u70b9\u306f\u3001\u610f\u5916\u3068\u77e5\u3089\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u30019p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304b\u3089\u3001\u4f3c\u305f\u540d\u524d\u306e\u300c9p-\u75c7\u5019\u7fa4\uff08Alfi\u75c7\u5019\u7fa4\uff09\u300d\u3068\u306e\u9055\u3044\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u306e\u6d41\u308c\u3001NIPT\u3068\u306e\u95a2\u4fc2\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002GARD\u30fbOrphanet\u30fbNCBI MedGen\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u65ad\u7247\u7684\u306a\u60c5\u5831\u306b\u632f\u308a\u56de\u3055\u308c\u305a\u3001\u4e00\u3064\u305a\u3064\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>9p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b<\/li>\n<li>\u300c9p-\u75c7\u5019\u7fa4\uff08Alfi\u75c7\u5019\u7fa4\uff09\u300d\u3068\u306e\u9055\u3044\u3068\u3001\u75c7\u72b6\u304c\u5909\u308f\u308b\u7406\u7531<\/li>\n<li>DMRT1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3068\u6027\u5206\u5316\u3078\u306e\u5f71\u97ff\u306e\u95a2\u4fc2<\/li>\n<li>\u767a\u9054\u30fb\u514d\u75ab\u30fb\u5fc3\u81d3\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u4e3b\u306a\u75c7\u72b6\u306e\u5831\u544a\u72b6\u6cc1<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306a\u3089\u306a\u3044\u304b<\/li>\n<li>\u8a3a\u65ad\u5f8c\u306e\u691c\u67fb\u306e\u6d41\u308c\u3068\u3001\u3054\u5bb6\u65cf\u304c\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_85 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\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#2_%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81%EF%BC%88%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%80%8C9p-%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%89\" >2. \u75be\u60a3\u6982\u8981\uff08\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u300c9p-\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#%E6%AC%A0%E5%A4%B1%E7%AF%84%E5%9B%B2%E3%81%A8%E9%96%A2%E4%B8%8E%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u6b20\u5931\u7bc4\u56f2\u3068\u95a2\u4e0e\u907a\u4f1d\u5b50<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#9p243%E5%8D%98%E7%8B%AC%E6%AC%A0%E5%A4%B1%E3%81%A8%E3%80%8C9p-%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Alfi%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%80%8D%E3%81%AE%E9%81%95%E3%81%84\" >9p24.3\u5358\u72ec\u6b20\u5931\u3068\u300c9p-\u75c7\u5019\u7fa4\uff08Alfi\u75c7\u5019\u7fa4\uff09\u300d\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#%E7%96%AB%E5%AD%A6%E3%83%BB%E7%99%BA%E7%94%9F%E9%A0%BB%E5%BA%A6\" >\u75ab\u5b66\u30fb\u767a\u751f\u983b\u5ea6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >3. \u4e3b\u306a\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 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class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#5_%E7%97%87%E7%8A%B6%E3%81%94%E3%81%A8%E3%81%AE%E7%AE%A1%E7%90%86%E3%83%BB%E6%B2%BB%E7%99%82%E6%96%B9%E9%87%9D\" >5. \u75c7\u72b6\u3054\u3068\u306e\u7ba1\u7406\u30fb\u6cbb\u7642\u65b9\u91dd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#6_%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >6. \u5c06\u6765\u306e\u898b\u901a\u3057<\/a><\/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-9p24-3-deletion-syndrome\/#7_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%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >7. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\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-9p24-3-deletion-syndrome\/#8_%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >8. \u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#%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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#9p243%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%80%8C9p-%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Alfi%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%80%8D%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >9p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u300c9p-\u75c7\u5019\u7fa4\uff08Alfi\u75c7\u5019\u7fa4\uff09\u300d\u306f\u540c\u3058\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#%E3%81%AA%E3%81%9C%E6%80%A7%E5%88%86%E5%8C%96%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%8C%E5%87%BA%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u306a\u305c\u6027\u5206\u5316\u306b\u5f71\u97ff\u304c\u51fa\u308b\u306e\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#9p243%E9%A0%98%E5%9F%9F%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >9p24.3\u9818\u57df\u306e\u6b20\u5931\u306fNIPT\u3067\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/#%E7%99%BA%E9%81%94%E9%9D%A2%E3%82%84%E5%85%8D%E7%96%AB%E9%9D%A2%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u767a\u9054\u9762\u3084\u514d\u75ab\u9762\u3078\u306e\u5f71\u97ff\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\u3002<\/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-9p24-3-deletion-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\"><\/span><strong>1. \u75c5\u6c17\u306e\u5225\u79f0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>9p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5831\u544a\u3055\u308c\u308b\u6587\u732e\u3084\u691c\u67fb\u4f1a\u793e\u306b\u3088\u3063\u3066\u3044\u304f\u3064\u304b\u306e\u547c\u3073\u65b9\u304c\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u4ee3\u8868\u7684\u306a\u5225\u79f0\u306f\u6b21\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>9p24.3 \u6b20\u5931\u75c7\u5019\u7fa4\uff089p24.3 Deletion Syndrome\uff09<\/li>\n\n\n\n<li>9p \u77ed\u8155<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\uff08\u7279\u306b9p24.3\u9818\u57df\uff09<\/li>\n\n\n\n<li>9p\u6b20\u5931\u75c7\uff089p deletion syndrome\uff0f9p-\u75c7\u5019\u7fa4\uff09\u306e\u4e00\u5f62\u614b<\/li>\n\n\n\n<li>46,XY\u6027\u5206\u5316\u75be\u60a34\u578b\uff0846,XY Sex Reversal 4\uff0fSRXY4\uff09\uff1aDMRT1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u7740\u76ee\u3057\u305f\u533b\u5b66\u6587\u732e\u3067\u306e\u547c\u79f0<\/li>\n\n\n\n<li>Alfi\u75c7\u5019\u7fa4\uff089p deletion\u5168\u4f53\u3092\u6307\u3059\u540d\u79f0\uff09\u306e\u4e00\u4e9c\u578b\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u8868\u73fe<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u547d\u540d\u306f\u30019\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u8155\uff09\u306e\u672b\u7aef\u8fd1\u508d\u306b\u3042\u308b24.3\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c\u3001\u4e00\u90e8\u307e\u305f\u306f\u5168\u90e8\u6b20\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u30029p deletion\uff089p-\u75c7\u5019\u7fa4\uff09\u3068\u3044\u3046\u5e83\u3044\u67a0\u7d44\u307f\u306e\u4e2d\u3067\u3001\u6b20\u5931\u7aef\u70b9\u304c24.3\u306b\u8fd1\u3044\u3082\u306e\u3092\u6307\u3059\u7528\u8a9e\u3068\u3057\u3066\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81%EF%BC%88%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%80%8C9p-%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%89\"><\/span><strong>2. \u75be\u60a3\u6982\u8981\uff08\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u300c9p-\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>9p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30019\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u672b\u7aef\u8fd1\u508d\uff08p24.3\u9818\u57df\uff09\u306e\u907a\u4f1d\u5b50\u304c\u7247\u5074\u3067\u5931\u308f\u308c\u3001\u30cf\u30d7\u30ed\u4e0d\u8db3\uff08\u534a\u5206\u91cf\uff09\u3067\u3057\u304b\u767a\u73fe\u3067\u304d\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u6027\u5206\u5316\u30fb\u514d\u75ab\u30fb\u767a\u9054\u306a\u3069\u306b\u5f71\u97ff\u304c\u53ca\u3076<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u81e8\u5e8a\u50cf\u3084\u91cd\u75c7\u5ea6\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\uff08\u3069\u306e\u907a\u4f1d\u5b50\u307e\u3067\u542b\u307e\u308c\u3066\u3044\u308b\u304b\uff09\u3084\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u5909\u7570\u30fb\u4f75\u5b58\u7570\u5e38\u306e\u6709\u7121\u3001\u500b\u4f53\u5dee\u306a\u3069\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u8efd\u75c7\u4f8b\u304b\u3089\u91cd\u75c7\u4f8b\u307e\u3067\u3001\u5e45\u5e83\u3044\u8868\u73fe\u578b\u3092\u793a\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A0%E5%A4%B1%E7%AF%84%E5%9B%B2%E3%81%A8%E9%96%A2%E4%B8%8E%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>\u6b20\u5931\u7bc4\u56f2\u3068\u95a2\u4e0e\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>9p deletion\u5168\u4f53\u3092\u898b\u305f\u5927\u898f\u6a21\u7814\u7a76\u3067\u306f\u3001\u6b20\u5931\u7aef\u70b9\u304c9p22\u304a\u3088\u3073p24\u306b\u96c6\u4e2d\u3059\u308b\u4f8b\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u30019p24\u9818\u57df\u306f\u5909\u7570\u306e\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u306e\u4e00\u3064\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u30029p24.3\u6b20\u5931\u4f8b\u3067\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u5019\u88dc\u907a\u4f1d\u5b50\u304c\u3053\u306e\u9818\u57df\u306b\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u907a\u4f1d\u5b50<\/th><th>\u95a2\u9023\u304c\u6307\u6458\u3055\u308c\u308b\u6a5f\u80fd\u30fb\u75be\u60a3<\/th><\/tr><\/thead><tbody><tr><td>DMRT1\u30fbDMRT2\u30fbDMRT3<\/td><td>\u6027\u5206\u5316\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u7fa4\u3002\u30cf\u30d7\u30ed\u4e0d\u8db3\u306b\u3088\u308a46,XY\u75c7\u4f8b\u3067\u306e\u6027\u817a\u5f62\u6210\u4e0d\u5168\u30fb\u6027\u5206\u5316\u75be\u60a3\u3068\u306e\u95a2\u9023\u304c\u91cd\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/td><\/tr><tr><td>DOCK8<\/td><td>\u795e\u7d4c\u767a\u9054\u30fb\u514d\u75ab\u7cfb\u6a5f\u80fd\u306b\u95a2\u4e0e\u3002\u4e21\u30a2\u30ec\u30eb\u6027\u306e\u5909\u7570\u3067\u8d77\u3053\u308b\u300cDOCK8\u6b20\u640d\u75c7\uff08\u9ad8IgE\u75c7\u5019\u7fa4\uff09\u300d\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3082\u3042\u308a\u3001\u7247\u5074\u6b20\u5931\u3067\u3082\u6613\u611f\u67d3\u6027\u306e\u4e00\u56e0\u306b\u306a\u308a\u5f97\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/td><\/tr><tr><td>KANK1<\/td><td>\u795e\u7d4c\u767a\u9054\u30fb\u884c\u52d5\u5236\u5fa1\u30fb\u7d30\u80de\u9aa8\u683c\u306e\u8abf\u7bc0\u306b\u95a2\u4e0e\u3002\u6b20\u5931\u4f8b\u3067\u306e\u767a\u9054\u306e\u9045\u308c\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u69d8\u50be\u5411\u3068\u306e\u95a2\u9023\u304c\u8ad6\u3058\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/td><\/tr><tr><td>FOXD4<\/td><td>\u795e\u7d4c\u767a\u751f\u306b\u95a2\u308f\u308b\u8ee2\u5199\u56e0\u5b50\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u3002<\/td><\/tr><tr><td>SMARCA2<\/td><td>\u70b9\u5909\u7570\u3067Nicolaides-Baraitser\u75c7\u5019\u7fa4\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u4f34\u3046\u75be\u60a3\uff09\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3002\u6b20\u5931\u306b\u3088\u308b\u95a2\u4e0e\u306f\u7814\u7a76\u6bb5\u968e\u3067\u3059\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u7279\u306bDMRT1\u306f\u30019p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u5fc3\u7684\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u56fd\u969b\u7684\u306b\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002XY\u67d3\u8272\u4f53\u69cb\u6210\u306e\u7537\u6027\u4f8b\u3067\u6027\u5668\u7570\u5e38\u3092\u5408\u4f75\u3059\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u6240\u898b\u306fOMIM\uff08\u30aa\u30f3\u30e9\u30a4\u30f3\u30fb\u30e1\u30f3\u30c7\u30eb\u907a\u4f1d\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u306b\u3082\u300c46,XY\u6027\u5206\u5316\u75be\u60a34\u578b\u300d\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9p243%E5%8D%98%E7%8B%AC%E6%AC%A0%E5%A4%B1%E3%81%A8%E3%80%8C9p-%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Alfi%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%80%8D%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>9p24.3\u5358\u72ec\u6b20\u5931\u3068\u300c9p-\u75c7\u5019\u7fa4\uff08Alfi\u75c7\u5019\u7fa4\uff09\u300d\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u898b\u843d\u3068\u3055\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u4e09\u89d2\u982d\u84cb\uff08\u982d\u90e8\u524d\u984d\u90e8\u304c\u72ed\u304f\u306a\u308b\u5f62\u72b6\uff09\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u300c\u53e4\u5178\u7684\u306a9p-\u75c7\u5019\u7fa4\u300d\u306e\u7279\u5fb4\u7684\u6240\u898b\u306f\u30019p24.3\u5358\u72ec\u6b20\u5931\u3088\u308a\u3082\u3001\u96a3\u63a5\u3059\u308b9p22-p23\u9818\u57df\u3092\u542b\u3080\u3001\u3088\u308a\u5e83\u3044\u6b20\u5931\u3067\u76ee\u7acb\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u3053\u306e\u9055\u3044\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>\u6bd4\u8f03\u9805\u76ee<\/th><th>9p24.3\u5358\u72ec\u6b20\u5931\uff08\u672c\u8a18\u4e8b\u30fb\u672b\u7aef\u6b20\u5931\uff09<\/th><th>9p22-p23\u3092\u542b\u3080\u6b20\u5931\uff08\u53e4\u5178\u76849p-\u75c7\u5019\u7fa4\uff0fAlfi\u75c7\u5019\u7fa4\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u4e2d\u5fc3\u3068\u306a\u308b\u539f\u56e0\u907a\u4f1d\u5b50<\/td><td>DMRT1\u30fbDMRT2\u30fbDMRT3\u30fbDOCK8\u30fbKANK1\u306a\u3069<\/td><td>FREM1\u3092\u306f\u3058\u3081\u3068\u3059\u308b9p22-p23\u9818\u57df\u306e\u907a\u4f1d\u5b50\u7fa4<\/td><\/tr><tr><td>\u6027\u5206\u5316\u3078\u306e\u5f71\u97ff<\/td><td>46,XY\u75c7\u4f8b\u3067\u306e\u6027\u817a\u5f62\u6210\u4e0d\u5168\u30fb\u6027\u5206\u5316\u75be\u60a3\u304c\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3057\u3066\u5f37\u8abf\u3055\u308c\u308b<\/td><td>\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u3042\u308b\u304c\u4e2d\u5fc3\u7684\u6240\u898b\u3067\u306f\u306a\u3044<\/td><\/tr><tr><td>\u4e09\u89d2\u982d\u84cb\u30fb\u4e2d\u9854\u9762\u4f4e\u5f62\u6210<\/td><td>\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/td><td>\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u308b\u983b\u5ea6\u304c\u9ad8\u3044<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u767a\u9054\u306e\u9045\u308c<\/td><td>\u5831\u544a\u3042\u308a\uff08\u7a0b\u5ea6\u306f\u75c7\u4f8b\u306b\u3088\u308b\uff09<\/td><td>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u3067\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u5b9f\u969b\u306e\u75c7\u4f8b\u3067\u306f\u3001\u6b20\u5931\u7bc4\u56f2\u304c9p22\u304b\u3089p24\u306b\u307e\u305f\u304c\u308b\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u5834\u5408\u3001\u4e21\u65b9\u306e\u7279\u5fb4\u304c\u91cd\u306a\u3063\u3066\u73fe\u308c\u307e\u3059\u3002\u8a3a\u65ad\u66f8\u306b\u300c9p24.3\u300d\u3068\u3060\u3051\u8a18\u8f09\u3055\u308c\u3066\u3044\u3066\u3082\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\u306b\u3088\u3063\u3066\u898b\u901a\u3057\u306f\u5909\u308f\u308a\u307e\u3059\u306e\u3067\u3001\u62c5\u5f53\u533b\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6%E3%83%BB%E7%99%BA%E7%94%9F%E9%A0%BB%E5%BA%A6\"><\/span><strong>\u75ab\u5b66\u30fb\u767a\u751f\u983b\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>9p deletion\uff089p-\u75c7\u5019\u7fa4\uff09\u5168\u4f53\u306b\u3064\u3044\u3066\u306f\u3001\u5831\u544a\u4f8b\u306f200\u4f8b\u524d\u5f8c\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u305b\u3093\u3002<br><\/li>\n\n\n\n<li>9p24.3\u6b20\u5931\u306b\u9650\u5b9a\u3057\u305f\u5831\u544a\u3001\u7279\u306bDMRT1\u6b20\u5931\u306b\u3088\u308b46,XY\u6027\u5206\u5316\u75be\u60a3\u306e\u75c7\u4f8b\u306f\u3001\u3053\u308c\u307e\u3067\u306b\u6570\u5341\u4f8b\u898f\u6a21\u304c\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002\u6587\u732e\u306b\u3088\u3063\u3066\u96c6\u8a08\u7bc4\u56f2\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u4ef6\u6570\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u6b20\u5931\u306f<strong>de novo\uff08\u65b0\u898f\u5909\u7570\uff09<\/strong>\u3067\u3042\u308a\u3001\u89aa\u306b\u540c\u69d8\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u3044\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u307e\u308c\u306a\u4f8b\u3068\u3057\u3066\u89aa\u306b\u30d0\u30e9\u30f3\u30b9\u578b\u8ee2\u5ea7\u3092\u6301\u3064\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br><\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u540c\u3058\u75c7\u72b6\u304c\u51fa\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u6027\u5206\u5316\u30fb\u767a\u9054\u30fb\u514d\u75ab\u3092\u4e2d\u5fc3\u306b\u3001\u5831\u544a\u4f8b\u3054\u3068\u306b\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4ee3\u8868\u7684\u306a\u6240\u898b\u3092\u3001\u4ee5\u4e0b\u306e\u8868\u306b\u307e\u3068\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6\u30fb\u6240\u898b<\/th><th>\u5831\u544a\u306e\u72b6\u6cc1<\/th><\/tr><\/thead><tbody><tr><td>46,XY\u75c7\u4f8b\u3067\u306e\u6027\u817a\u5f62\u6210\u4e0d\u5168\u30fb\u6027\u5206\u5316\u75be\u60a3<\/td><td>DMRT1\u6b20\u5931\u306b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3057\u3066\u91cd\u8996\u3055\u308c\u308b<\/td><\/tr><tr><td>\u767a\u9054\u9045\u6ede\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/td><td>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u3001\u7a0b\u5ea6\u306f\u75c7\u4f8b\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308b<\/td><\/tr><tr><td>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u30fb\u767a\u8a71\u56f0\u96e3<\/td><td>\u8907\u6570\u306e\u75c7\u4f8b\u3067\u5831\u544a<\/td><\/tr><tr><td>\u884c\u52d5\u9762\u306e\u7279\u5fb4\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u69d8\u50be\u5411\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u50be\u5411\uff09<\/td><td>KANK1\u9818\u57df\u3068\u306e\u95a2\u9023\u304c\u8ad6\u3058\u3089\u308c\u3066\u3044\u308b<\/td><\/tr><tr><td>\u6613\u611f\u67d3\u6027\u30fb\u514d\u75ab\u6a5f\u80fd\u306e\u7570\u5e38\u50be\u5411<\/td><td>DOCK8\u3092\u542b\u3080\u6b20\u5931\u4f8b\u3067\u5831\u544a\u3042\u308a<\/td><\/tr><tr><td>\u5148\u5929\u6027\u5fc3\u5947\u5f62\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09<\/td><td>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u5408\u4f75<\/td><\/tr><tr><td>\u9854\u8c8c\u306e\u7279\u5fb4\uff08\u4f4e\u4f4d\u8033\u3001\u9f3b\u6881\u306e\u5e83\u304c\u308a\u306a\u3069\u8efd\u5ea6\u306a\u3082\u306e\uff09<\/td><td>\u75c7\u4f8b\u306b\u3088\u308a\u7a0b\u5ea6\u306f\u69d8\u3005\u3002\u4e09\u89d2\u982d\u84cb\u306a\u3069\u660e\u78ba\u306a\u6240\u898b\u306f9p22-p23\u3092\u542b\u3080\u6b20\u5931\u3067\u76ee\u7acb\u3061\u3084\u3059\u3044<\/td><\/tr><tr><td>\u305d\u306e\u4ed6\uff08\u6ccc\u5c3f\u5668\u7570\u5e38\u3001\u8996\u899a\u7570\u5e38\u3001\u7b4b\u7dca\u5f35\u7570\u5e38\u306a\u3069\uff09<\/td><td>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u5831\u544a<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u5831\u544a\u6570\u306f\u9650\u5b9a\u7684\u3067\u3059\u304c\u3001\u7d14\u7c8b\u306a9p24.3\u6b20\u5931\u4f8b\uff08\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u4f34\u308f\u306a\u3044\u3082\u306e\uff09\u306f\u6bd4\u8f03\u7684\u7a00\u3068\u3055\u308c\u3001\u5168\u4f53\u7684\u306b\u306f9p deletion\u306e\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u306e\u4e00\u3064\u3068\u6349\u3048\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u72b6\u6cc1\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span><strong>4. \u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%EF%BC%88%E7%99%BA%E7%97%87%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BC%89\"><\/span><strong>\u75c5\u56e0\uff08\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306f\u67d3\u8272\u4f53\u306e\u5206\u65ad\u3068\u518d\u7d50\u5408\u7570\u5e38\u304b\u3089\u751f\u3058\u308b\u3082\u306e\u3067\u3001\u767a\u751f\u6642\u671f\u306f\u751f\u6b96\u7d30\u80de\u5f62\u6210\u671f\u307e\u305f\u306f\u53d7\u7cbe\u5f8c\u306e\u521d\u671f\u6bb5\u968e\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u89aa\u304c\u30d0\u30e9\u30f3\u30b9\u578b\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\uff08\u8ee2\u5ea7\u3001\u9006\u4f4d\u306a\u3069\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u305d\u308c\u304c\u4e0d\u5747\u8861\u578b\u3068\u3057\u3066\u5b50\u306b\u4f1d\u308f\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u6b20\u5931\u306b\u3088\u308b\u30cf\u30d7\u30ed\u4e0d\u8db3\uff08\u7247\u5074\u306e\u907a\u4f1d\u5b50\u3057\u304b\u50cd\u304b\u306a\u3044\u72b6\u614b\uff09\u306b\u3088\u3063\u3066\u907a\u4f1d\u5b50\u767a\u73fe\u91cf\u304c\u4f4e\u4e0b\u3057\u3001\u6027\u5206\u5316\u30fb\u767a\u9054\u30fb\u514d\u75ab\u306a\u3069\u306e\u6a5f\u80fd\u5f62\u6210\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u6b20\u5931\u9818\u57df\u4ee5\u5916\u306e\u907a\u4f1d\u5b50\u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3084\u3001\u4fee\u98fe\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3082\u3001\u8868\u73fe\u578b\u306e\u500b\u4eba\u5dee\u3092\u89e3\u304f\u9375\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span><strong>\u8a3a\u65ad\u306e\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u7684\u7591\u3044\u3068\u8eab\u4f53\u6240\u898b\u8a55\u4fa1<\/strong><br>\u6027\u5206\u5316\u306e\u7570\u5e38\u3001\u767a\u9054\u9045\u6ede\u3001\u9854\u8c8c\u306e\u7279\u5fb4\u306a\u3069\u304b\u3089<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u6a19\u6e96\u89e3\u6790\uff08\u6838\u578b\u5206\u6790\uff09\uff1a<br>\u6b20\u5931\u304c\u6bd4\u8f03\u7684\u5927\u304d\u3051\u308c\u3070\u3001G\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u89e3\u6790\u3067\u78ba\u8a8d\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\uff08\u86cd\u5149in situ hybridization\uff09<\/strong><br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u30019p24.3\u9818\u57df\uff08DMRT1\u5468\u8fba\uff09\u306e\u6b20\u5931\u6709\u7121\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08array CGH\uff0fSNP<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\uff09<\/strong><br>\u9ad8\u5206\u89e3\u80fd\u3067\u6b20\u5931\u30fb\u91cd\u8907\u3092\u691c\u51fa\u3067\u304d\u3001\u5fae\u5c0f\u306a\u6b20\u5931\u3082\u691c\u51fa\u53ef\u80fd\u3067\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u304c9p24.3\u306b\u3068\u3069\u307e\u308b\u304b\u30019p22-p23\u307e\u3067\u53ca\u3076\u304b\u3082\u3001\u3053\u306e\u691c\u67fb\u3067\u5224\u5225\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306b\u3088\u308b\u88dc\u52a9\u691c\u67fb\uff1a<br>\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3092\u3001\u3088\u308a\u8a73\u7d30\u306b\u8a55\u4fa1\u3059\u308b\u88dc\u52a9\u7684\u624b\u6cd5\u3068\u3057\u3066\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u691c\u67fb\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff1a<br>\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3044\u3001\u5747\u8861\u578b\u8ee2\u5ea7\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u3001\u5c06\u6765\u306e\u30ea\u30b9\u30af\u3084\u5bb6\u65cf\u8a08\u753b\u306b\u5f79\u7acb\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4ed8\u968f\u691c\u67fb\uff1a<br>\u6027\u30db\u30eb\u30e2\u30f3\u691c\u67fb\u3001\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3001\u514d\u75ab\u6a5f\u80fd\u691c\u67fb\u3001\u753b\u50cf\u691c\u67fb\uff08\u8133MRI\u306a\u3069\uff09\u3092\u4f75\u7528\u3057\u3001\u5408\u4f75\u75c7\u3092\u628a\u63e1\u30fb\u7ba1\u7406\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u6bb5\u968e\u7684\u306a\u691c\u67fb\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u7d4c\u3066\u3001\u6700\u7d42\u8a3a\u65ad\u304c\u5c0e\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/32617927_s-4.webp\" alt=\"\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u3064\u3044\u3066\u533b\u5e2b\u304b\u3089\u8aac\u660e\u3092\u53d7\u3051\u308b\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-116067\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%97%87%E7%8A%B6%E3%81%94%E3%81%A8%E3%81%AE%E7%AE%A1%E7%90%86%E3%83%BB%E6%B2%BB%E7%99%82%E6%96%B9%E9%87%9D\"><\/span><strong>5. \u75c7\u72b6\u3054\u3068\u306e\u7ba1\u7406\u30fb\u6cbb\u7642\u65b9\u91dd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3054\u3068\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u3067\u3001\u304a\u5b50\u3055\u307e\u3089\u3057\u3044\u6210\u9577\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><br>\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3092\u65e9\u671f\u304b\u3089\u884c\u3044\u3001\u904b\u52d5\u30fb\u8a8d\u77e5\u30fb\u8a00\u8a9e\u80fd\u529b\u3092\u4f38\u3070\u3059\u571f\u53f0\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u30fb\u5185\u5206\u6ccc\u5bfe\u5fdc<\/strong><br>\u6027\u5206\u5316\u75be\u60a3\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u3067\u306f\u3001\u5185\u5206\u6ccc\u691c\u67fb\u3001\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u3001\u5fc5\u8981\u6642\u306e\u5916\u79d1\u7684\u4ecb\u5165\u3092\u5c0f\u5150\u5185\u5206\u6ccc\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u3068\u9023\u643a\u3057\u3066\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u514d\u75ab\u6a5f\u80fd\u7ba1\u7406\u30fb\u611f\u67d3\u4e88\u9632\uff1a<br>\u514d\u75ab\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4e88\u9632\u63a5\u7a2e\u3001\u611f\u67d3\u4e88\u9632\u5bfe\u7b56\u3001\u65e9\u671f\u6cbb\u7642\u306b\u3064\u306a\u3052\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u5947\u5f62\u306e\u7ba1\u7406<\/strong><br>\u5fc3\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u306f\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u3068\u9023\u643a\u3057\u3001\u624b\u8853\u3084\u5185\u79d1\u7684\u7ba1\u7406\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u6a5f\u80fd\u30d5\u30a9\u30ed\u30fc\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u30fb\u7cbe\u795e\u30b1\u30a2<\/strong><br>\u884c\u52d5\u7642\u6cd5\u3001\u74b0\u5883\u6574\u5099\u3001\u5fc3\u7406\u7642\u6cd5\u3001\u5fc5\u8981\u6642\u306e\u85ac\u7269\u7642\u6cd5\u3092\u4f75\u7528\u3057\u3001\u884c\u52d5\u9762\u306e\u7279\u5fb4\u3084\u6ce8\u610f\u6b20\u5982\u50be\u5411\u306b\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\uff1a<br>\u6210\u9577\u767a\u80b2\u3001\u5fc3\u6a5f\u80fd\u3001\u795e\u7d4c\u767a\u9054\u3001\u8996\u8074\u899a\u6a5f\u80fd\u306a\u3069\u3092\u5b9a\u671f\u7684\u306b\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4ecb\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u798f\u7949\u30fb\u6559\u80b2\u652f\u63f4\uff1a<br>\u7279\u5225\u652f\u63f4\u5b66\u6821\u30fb\u7642\u80b2\u6a5f\u95a2\u3068\u306e\u9023\u643a\u3001\u88dc\u52a9\u6a5f\u5668\u306e\u5229\u7528\u3001\u901a\u6240\u652f\u63f4\u30fb\u5c31\u52b4\u652f\u63f4\u306e\u6d3b\u7528\u3001\u969c\u5bb3\u798f\u7949\u5236\u5ea6\u306e\u5c0e\u5165\u3092\u8a08\u753b\u7684\u306b\u9032\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u652f\u63f4\uff1a<br>\u4fdd\u8b77\u8005\u3078\u306e\u5fc3\u7406\u652f\u63f4\u3001\u76f8\u8ac7\u7a93\u53e3\u306e\u5229\u7528\u3001\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\u306e\u5c0e\u5165\u306a\u3069\u3001\u5c06\u6765\u306b\u5411\u3051\u305f\u652f\u63f4\u4f53\u5236\u3065\u304f\u308a\u3092\u65e9\u3081\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u3053\u3046\u3057\u305f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u304a\u5b50\u3055\u307e\u3092\u6301\u3064\u3054\u5bb6\u65cf\u304b\u3089\u3001\u6027\u5206\u5316\u306e\u8aac\u660e\u3084\u4eca\u5f8c\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5c02\u9580\u79d1\u3069\u3046\u3057\u306e\u9023\u643a\u304c\u30b9\u30e0\u30fc\u30ba\u3060\u3068\u3001\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u304c\u8efd\u304f\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u3092\u7d71\u5408\u3057\u3066\u3001\u500b\u3005\u306e\u60a3\u8005\u30fb\u5bb6\u65cf\u306b\u5fdc\u3058\u305f\u5305\u62ec\u7684\u306a\u652f\u63f4\u4f53\u5236\u3092\u4f5c\u308b\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>6. \u5c06\u6765\u306e\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>9p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5c06\u6765\u306e\u898b\u901a\u3057\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u91cd\u8907\u7570\u5e38\u306e\u6709\u7121\u3001\u5408\u4f75\u75c7\u306e\u7a0b\u5ea6\u3001\u65e9\u671f\u4ecb\u5165\u306e\u6709\u7121\u3001\u652f\u63f4\u4f53\u5236\u306a\u3069\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u767a\u9054\u6a5f\u80fd\u306e\u5236\u9650\u304c\u5f37\u304f\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u63f4\u304c\u5fc5\u8981\u306a\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u7642\u80b2\u30fb\u533b\u7642\u652f\u63f4\u3092\u65e9\u671f\u304b\u3089\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3059\u308b\u4f59\u5730\u304c\u3042\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u6027\u5206\u5316\u75be\u60a3\u3084\u5fc3\u5947\u5f62\u3001\u514d\u75ab\u6a5f\u80fd\u306e\u7570\u5e38\u306a\u3069\u306e\u7ba1\u7406\u304c\u9069\u5207\u306b\u884c\u308f\u308c\u308c\u3070\u3001\u5065\u5eb7\u9762\u3067\u306e\u898b\u901a\u3057\u304c\u5b89\u5b9a\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u8efd\u75c7\u4f8b\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u76ee\u7acb\u305f\u305a\u3001\u5b66\u696d\u53c2\u52a0\u3084\u793e\u4f1a\u53c2\u52a0\u3092\u3042\u308b\u7a0b\u5ea6\u5b9f\u73fe\u3067\u304d\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u304c\u3054\u304f\u5c11\u306a\u3044\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u7d4c\u904e\u3092\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u4e16\u754c\u7684\u306b\u3082\u75c7\u4f8b\u306e\u84c4\u7a4d\u304c\u7d9a\u3044\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002<br><\/li>\n\n\n\n<li>\u6700\u3082\u91cd\u8981\u306a\u306e\u306f\u3001\u9577\u671f\u306b\u308f\u305f\u308b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3068\u533b\u7642\u30fb\u6559\u80b2\u30fb\u798f\u7949\u306e\u5305\u62ec\u652f\u63f4\u4f53\u5236\u304c\u7dad\u6301\u3055\u308c\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u308c\u304c\u672c\u4eba\u306e\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u3068\u5bb6\u65cf\u306e\u8ca0\u62c5\u8efd\u6e1b\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u79c1\u304c\u3053\u308c\u307e\u3067\u306e\u8a3a\u7642\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u6027\u5206\u5316\u306b\u95a2\u3059\u308b\u8a3a\u65ad\u304c\u3064\u3044\u305f\u76f4\u5f8c\u306f\u3001\u3054\u5bb6\u65cf\u304c\u6238\u60d1\u3044\u3084\u4e0d\u5b89\u3092\u5f37\u304f\u611f\u3058\u3084\u3059\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u4e00\u65b9\u3067\u3001\u5c02\u9580\u79d1\u306e\u9023\u643a\u304c\u65e9\u304f\u6574\u3046\u307b\u3069\u3001\u305d\u306e\u5f8c\u306e\u898b\u901a\u3057\u3092\u524d\u5411\u304d\u306b\u63cf\u3051\u308b\u3054\u5bb6\u65cf\u304c\u591a\u3044\u3068\u3082\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_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%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>7. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>9p24.3\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u304c\u5bfe\u8c61\u3068\u3059\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u306f\u7570\u306a\u308b\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u300d\u306e\u9818\u57df\u306b\u3042\u305f\u308a\u3001\u5bfe\u8c61\u306b\u542b\u3081\u308b\u304b\u3069\u3046\u304b\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u304c\u8abf\u3079\u308b\u306e\u306f\u3001\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u306b\u3042\u305f\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u304c\u4e2d\u5fc3\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u3067\u306f\u3001\u3088\u308a\u591a\u304f\u306e\u9818\u57df\u3092\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u3081\u3089\u308c\u307e\u3059\u304c\u30019p24.3\u306e\u3088\u3046\u306a\u5831\u544a\u4f8b\u306e\u5c11\u306a\u3044\u9818\u57df\u307e\u3067\u540d\u6307\u3057\u3067\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001143\u7a2e\u985e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75c7\u5019\u7fa4\u306854\u7a2e\u985e\u4ee5\u4e0a\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u5bfe\u5fdc\u3059\u308b\u30d7\u30e9\u30f3\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5bfe\u8c61\u9818\u57df\u306f\u691c\u67fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u3054\u691c\u8a0e\u4e2d\u306e\u30d7\u30e9\u30f3\u3067\u8a72\u5f53\u9818\u57df\u304c\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u4e8b\u524d\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u300c\u62e1\u5927\u691c\u67fb\u3067\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u9818\u57df\u306e\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u3089\u3001\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u304c\u5bc4\u305b\u3089\u308c\u308b\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<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u5bfe\u8c61\u9818\u57df\u304c\u5e83\u304f\u306a\u308b\u307b\u3069\u3001\u6709\u75c5\u7387\u305d\u306e\u3082\u306e\u304c\u4f4e\u3044\u305f\u3081\u3001\u967d\u6027\u3067\u3042\u3063\u3066\u3082\u5b9f\u969b\u306b\u75be\u60a3\u3092\u6709\u3059\u308b\u5272\u5408\uff08\u967d\u6027\u7684\u4e2d\u7387\uff09\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u30679p24.3\u9818\u57df\u3092\u542b\u3080<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u3001\u6d41\u308c\u306f\u6b21\u306e\u901a\u308a\u3067\u3059\u3002\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7d50\u679c\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u305d\u306e\u4e0a\u3067\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\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3057\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u306a\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u308b\u3082\u306e\u3067\u3042\u308a\u3001NIPT\u306e\u7d50\u679c\u3060\u3051\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3042\u308f\u3066\u3066\u7d50\u8ad6\u3092\u51fa\u3055\u305a\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\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=\"8_%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span><strong>8. \u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u8a3a\u7642\u79d1\u3001\u5c0f\u5150\u5185\u5206\u6ccc\u79d1\u3001\u6ccc\u5c3f\u5668\u79d1\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u3001\u514d\u75ab\u79d1\u306a\u3069\u5c02\u9580\u533b\u3068\u306e\u9023\u643a\u3092\u5f37\u3081\u3066\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u671b\u307e\u308c\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3088\u3063\u3066\u3001\u6027\u5206\u5316\u306b\u95a2\u3059\u308b\u7591\u554f\u3084\u3001\u5c06\u6765\u306e\u598a\u5a20\u30ea\u30b9\u30af\u30fb\u5bb6\u65cf\u8a08\u753b\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3067\u304d\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u9ad8\u5206\u89e3\u80fd\u907a\u4f1d\u5b50\u691c\u67fb\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u306a\u3069\uff09\u3092\u7528\u3044\u308b\u3053\u3068\u3067\u3001\u6b20\u5931\u306e\u8a73\u7d30\u306a\u7bc4\u56f2\u3084\u8fd1\u508d\u907a\u4f1d\u5b50\u3078\u306e\u5f71\u97ff\u306e\u628a\u63e1\u304c\u53ef\u80fd\u3067\u3059\u3002<br><\/li>\n\n\n\n<li>\u60a3\u8005\u5bb6\u65cf\u4f1a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u652f\u63f4\u56e3\u4f53\u3001\u5e0c\u5c11\u75be\u60a3\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306a\u3069\u306e\u60c5\u5831\u4ea4\u6d41\u30fb\u652f\u63f4\u3092\u6d3b\u7528\u3059\u308b\u3068\u3088\u3044\u3067\u3057\u3087\u3046\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u95a2\u9023\u3059\u308b\u67d3\u8272\u4f53\u75be\u60a3\u306b\u3064\u3044\u3066\u6c17\u306b\u306a\u308b\u65b9\u306f\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u30029p24.3\u306e\u5bfe\u3068\u306a\u308b\u9818\u57df\u304c\u91cd\u8907\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p-duplication-syndrome\/\">9p\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/\">\u67d3\u8272\u4f53\u306e\u5fae\u5c0f\u306a\u7570\u5e38\u304c\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u4ed5\u7d44\u307f\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002\u767a\u9054\u9762\u306e\u7279\u5fb4\u304c\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-autism-developmental-disorders-detection\/\">NIPT\u3067\u767a\u9054\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u306f\u308f\u304b\u308b\u304b\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u5168\u4f53\u306e\u691c\u51fa\u78ba\u7387\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\">\u6570\u5b57\u3067\u898b\u308bNIPT\u306e\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u30fb\u7684\u4e2d\u7387\u306e\u8a18\u4e8b<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u540c\u3058\u3088\u3046\u306b\u5831\u544a\u4f8b\u306e\u5c11\u306a\u3044\u67d3\u8272\u4f53\u75be\u60a3\u3068\u3057\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q23-1-q23-2-microdeletion-syndrome\/\">17q23.1-q23.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3082\u3042\u308a\u307e\u3059\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\u3055\u307e\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\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\u8a66\u3057\u3066\u307f\u3066\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--1\"><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<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=\"9p243%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%80%8C9p-%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Alfi%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%80%8D%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>9p24.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u300c9p-\u75c7\u5019\u7fa4\uff08Alfi\u75c7\u5019\u7fa4\uff09\u300d\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e83\u3044\u610f\u5473\u3067\u306f9p-\u75c7\u5019\u7fa4\u306e\u4e00\u5f62\u614b\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u4e2d\u5fc3\u306f\u7570\u306a\u308a\u307e\u3059\u30029p24.3\u5358\u72ec\u306e\u6b20\u5931\u3067\u306fDMRT1\u95a2\u9023\u306e\u6027\u5206\u5316\u75be\u60a3\u304c\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3057\u3066\u91cd\u8996\u3055\u308c\u308b\u4e00\u65b9\u3001\u4e09\u89d2\u982d\u84cb\u306a\u3069\u306e\u53e4\u5178\u7684\u306a9p-\u75c7\u5019\u7fa4\u306e\u6240\u898b\u306f\u3001\u96a3\u63a5\u3059\u308b9p22-p23\u9818\u57df\u307e\u3067\u6b20\u5931\u304c\u53ca\u3076\u5834\u5408\u306b\u76ee\u7acb\u3061\u3084\u3059\u3044\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%AA%E3%81%9C%E6%80%A7%E5%88%86%E5%8C%96%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%8C%E5%87%BA%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u306a\u305c\u6027\u5206\u5316\u306b\u5f71\u97ff\u304c\u51fa\u308b\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>9p24.3\u9818\u57df\u306b\u3042\u308bDMRT1\u907a\u4f1d\u5b50\u306f\u3001\u7cbe\u5de3\u306e\u767a\u751f\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u30cf\u30d7\u30ed\u4e0d\u8db3\uff08\u7247\u5074\u3057\u304b\u50cd\u304b\u306a\u3044\u72b6\u614b\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u300146,XY\uff08\u67d3\u8272\u4f53\u4e0a\u306f\u7537\u6027\u578b\uff09\u306e\u80ce\u5150\u3067\u7cbe\u5de3\u306e\u767a\u751f\u304c\u5341\u5206\u306b\u9032\u307e\u305a\u3001\u6027\u5206\u5316\u75be\u60a3\u306b\u3064\u306a\u304c\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=\"9p243%E9%A0%98%E5%9F%9F%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>9p24.3\u9818\u57df\u306e\u6b20\u5931\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u305a\u3001<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\u540d\u6307\u3057\u3067\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u307e\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u306e\u305f\u3081\u3001\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306fde novo\uff08\u5076\u767a\u7684\u306a\u5909\u5316\uff09\u3067\u3042\u308a\u3001\u3053\u306e\u5834\u5408\u306f\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u30d0\u30e9\u30f3\u30b9\u578b\u8ee2\u5ea7\u3092\u8efd\u5ea6\u306b\u304a\u6301\u3061\u306e\u5834\u5408\u306f\u3001\u518d\u767a\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08array CGH\uff0fSNP<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\uff09\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3088\u3046\u306a\u5fae\u7d30\u306a\u6b20\u5931\u3082\u767a\u898b\u3067\u304d\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066FISH\u6cd5\u3084\u4e21\u89aa\u306e\u691c\u67fb\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E9%9D%A2%E3%82%84%E5%85%8D%E7%96%AB%E9%9D%A2%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u767a\u9054\u9762\u3084\u514d\u75ab\u9762\u3078\u306e\u5f71\u97ff\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u3084\u884c\u52d5\u9762\u306e\u7279\u5fb4\u3001\u6613\u611f\u67d3\u6027\u306e\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u4e00\u5f8b\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u7a0b\u5ea6\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u767a\u9054\u691c\u67fb\u3084\u514d\u75ab\u6a5f\u80fd\u691c\u67fb\u3067\u7d4c\u904e\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001GARD\u30fbOrphanet\u30fbNCBI MedGen\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u6570\u5024\u306f\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span><strong>\u5f15\u7528\u6587\u732e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/3773\/chromosome-9p-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff0f\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff09: Chromosome 9p deletion syndrome<\/a><br><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1642\" target=\"_blank\" rel=\"noopener\">Orphanet: Distal deletion 9p syndrome<\/a><br><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261112\" target=\"_blank\" rel=\"noopener\">Orphanet: Monosomy 9p syndrome<\/a><br><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/167073\" target=\"_blank\" rel=\"noopener\">NCBI MedGen: Chromosome 9p deletion syndrome<\/a><br><\/li>\n\n\n\n<li>OMIM\uff08\u30aa\u30f3\u30e9\u30a4\u30f3\u30fb\u30e1\u30f3\u30c7\u30eb\u907a\u4f1d\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09#158170: Chromosome 9p Deletion Syndrome<br><\/li>\n\n\n\n<li>OMIM #154230: 46,XY Sex Reversal 4\uff08SRXY4\uff09\u2015 9p24.3\u9818\u57df\u306eDMRT1\u6b20\u5931\u306b\u95a2\u9023<br><\/li>\n\n\n\n<li>NCBI PubMed \u8ad6\u6587\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<br><\/li>\n<\/ul>\n\n\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": 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