{"id":121755,"date":"2026-01-07T16:50:52","date_gmt":"2026-01-07T07:50:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121755"},"modified":"2026-01-07T17:53:10","modified_gmt":"2026-01-07T08:53:10","slug":"chromosome-22q11-2-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/","title":{"rendered":"22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066"},"content":{"rendered":"<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/23477200_s-1.webp\" alt=\"\u30cf\u30fc\u30c8\" class=\"wp-image-121573\"\/><\/figure><\/div>\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" >\u306f\u3058\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#1_%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >1. \u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E6%9C%80%E3%82%82%E9%A0%BB%E5%BA%A6%E3%81%AE%E9%AB%98%E3%81%84%E3%80%8C%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%BE%AE%E7%B4%B0%E6%AC%A0%E5%A4%B1%E3%80%8D\" >\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u300c\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\u300d<\/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-22q11-2-deletion-syndrome\/#%E3%80%8C%E7%97%87%E7%8A%B6%E3%81%AE%E3%83%87%E3%83%91%E3%83%BC%E3%83%88%E3%80%8D%E3%81%A8%E5%91%BC%E3%81%B0%E3%82%8C%E3%82%8B%E7%90%86%E7%94%B1%E3%81%A8%E5%A4%9A%E6%A7%98%E6%80%A7\" >\u300c\u75c7\u72b6\u306e\u30c7\u30d1\u30fc\u30c8\u300d\u3068\u547c\u3070\u308c\u308b\u7406\u7531\u3068\u591a\u69d8\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88CATCH22%EF%BC%89\" >2. \u4e3b\u306a\u75c7\u72b6\uff08CATCH22\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E2%91%A0_%E5%BF%83%E7%96%BE%E6%82%A3%EF%BC%88Cardiac_defects%EF%BC%89%EF%BC%9A%E7%B4%8470%E3%80%9C80\" >\u2460 \u5fc3\u75be\u60a3\uff08Cardiac defects\uff09\uff1a\u7d0470\u301c80%<\/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-22q11-2-deletion-syndrome\/#%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Abnormal_facies%EF%BC%89%EF%BC%9A%E5%A4%9A%E3%81%8F%E3%81%AE%E6%82%A3%E8%80%85%E3%81%95%E3%82%93\" >\u2461 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Abnormal facies\uff09\uff1a\u591a\u304f\u306e\u60a3\u8005\u3055\u3093<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E2%91%A2_%E8%83%B8%E8%85%BA%E4%BD%8E%E5%BD%A2%E6%88%90%E3%83%BB%E5%85%8D%E7%96%AB%E6%A9%9F%E8%83%BD%E4%BD%8E%E4%B8%8B%EF%BC%88Thymic_hypoplasia%EF%BC%89%EF%BC%9A%E7%B4%8460%E3%80%9C70\" >\u2462 \u80f8\u817a\u4f4e\u5f62\u6210\u30fb\u514d\u75ab\u6a5f\u80fd\u4f4e\u4e0b\uff08Thymic hypoplasia\uff09\uff1a\u7d0460\u301c70%<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E2%91%A3_%E5%8F%A3%E8%93%8B%E8%A3%82%E3%83%BB%E9%BC%BB%E5%A3%B0%EF%BC%88Cleft_palate%EF%BC%89%EF%BC%9A%E7%B4%8470\" >\u2463 \u53e3\u84cb\u88c2\u30fb\u9f3b\u58f0\uff08Cleft palate\uff09\uff1a\u7d0470%<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E2%91%A4_%E4%BD%8E%E3%82%AB%E3%83%AB%E3%82%B7%E3%82%A6%E3%83%A0%E8%A1%80%E7%97%87%EF%BC%88Hypocalcemia%EF%BC%89%EF%BC%9A%E7%B4%8450\" >\u2464 \u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff08Hypocalcemia\uff09\uff1a\u7d0450%<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E2%91%A5_%E7%99%BA%E9%81%94%E3%81%A8%E5%AD%A6%E7%BF%92%E3%80%81%E7%B2%BE%E7%A5%9E%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u2465 \u767a\u9054\u3068\u5b66\u7fd2\u3001\u7cbe\u795e\u9762\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E2%91%A6_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >\u2466 \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D\" >3. \u539f\u56e0\u3068\u907a\u4f1d<\/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-22q11-2-deletion-syndrome\/#%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\" >\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/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-22q11-2-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\" >\u907a\u4f1d\u306e\u53ef\u80fd\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >4. \u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#FISH%E6%B3%95%EF%BC%88%E3%83%95%E3%82%A3%E3%83%83%E3%82%B7%E3%83%A5%E6%B3%95%EF%BC%89\" >FISH\u6cd5\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\u6cd5\uff09<\/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-22q11-2-deletion-syndrome\/#%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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E3%81%AA%E3%81%9C%E8%A8%BA%E6%96%AD%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%AA%E3%81%AE%E3%81%8B\" >\u306a\u305c\u8a3a\u65ad\u304c\u5fc5\u8981\u306a\u306e\u304b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%B9%B4%E4%BB%A3%E5%88%A5%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u5e74\u4ee3\u5225\u306e\u30dd\u30a4\u30f3\u30c8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%8C%E9%87%8D%E8%A6%81\" >\u30c1\u30fc\u30e0\u533b\u7642\u304c\u91cd\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#%E5%B9%B4%E4%BB%A3%E5%88%A5%E3%81%AE%E3%82%B1%E3%82%A2%E3%81%AE%E7%9B%AE%E5%AE%89\" >\u5e74\u4ee3\u5225\u306e\u30b1\u30a2\u306e\u76ee\u5b89<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#6_%E3%81%BE%E3%81%A8%E3%82%81\" >6. \u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/#7_%E8%A8%BA%E6%96%AD%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >7. \u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span><strong>\u306f\u3058\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u9a5a\u304d\u3084\u4e0d\u5b89\u3001\u305d\u3057\u3066\u300c\u3053\u308c\u304b\u3089\u3069\u3046\u306a\u308b\u306e\u3060\u308d\u3046\u300d\u3068\u3044\u3046\u6238\u60d1\u3044\u3092\u611f\u3058\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4ee5\u524d\u306f\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u300d\u3084\u300cVCFS\uff08\u5fc3\u81d3\u30fb\u9854\u8c8c\u30fb\u76ae\u819a\u75c7\u5019\u7fa4\uff09\u300d\u306a\u3069\u3001\u75c7\u72b6\u3054\u3068\u306b\u5225\u3005\u306e\u540d\u524d\u3067\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u907a\u4f1d\u5b50\u7814\u7a76\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u3053\u308c\u3089\u304c\u540c\u3058\u539f\u56e0\uff08\u67d3\u8272\u4f53\u306e\u5909\u5316\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u3001\u73fe\u5728\u306f\u7d71\u4e00\u3057\u3066\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30ac\u30a4\u30c9\u306f\u3001\u8a3a\u65ad\u540d\u306b\u5727\u5012\u3055\u308c\u305d\u3046\u306a\u3054\u5bb6\u65cf\u304c\u3001\u75c5\u6c17\u306e\u5168\u4f53\u50cf\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u300c\u5730\u56f3\u300d\u3068\u306a\u308b\u3088\u3046\u306b\u4f5c\u6210\u3057\u307e\u3057\u305f\u3002\u533b\u5b66\u7684\u306a\u60c5\u5831\u3060\u3051\u3067\u306a\u304f\u3001\u751f\u6d3b\u306e\u4e2d\u3067\u5927\u5207\u306b\u3057\u3066\u307b\u3057\u3044\u30dd\u30a4\u30f3\u30c8\u3082\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002\u307e\u305a\u306f\u6df1\u547c\u5438\u3092\u3057\u3066\u3001\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%80%E3%82%82%E9%A0%BB%E5%BA%A6%E3%81%AE%E9%AB%98%E3%81%84%E3%80%8C%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%BE%AE%E7%B4%B0%E6%AC%A0%E5%A4%B1%E3%80%8D\"><\/span><strong>\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u300c\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u3001\u7d0437\u5146\u500b\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u304a\u308a\u3001\u305d\u306e\u6838\u306e\u4e2d\u306b\u306f\u300c\u67d3\u8272\u4f53\u300d\u3068\u3044\u3046\u907a\u4f1d\u60c5\u5831\u306e\u8a2d\u8a08\u56f3\u304c46\u672c\uff0823\u5bfe\uff09\u5165\u3063\u3066\u3044\u307e\u3059\u3002 22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300122\u756a\u76ee\u306b\u3042\u308b\u5e38\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u300c11.2\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u306e\u3054\u304f\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3057\u307e\u3046\uff08\u6b20\u5931\u3059\u308b\uff09\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u983b\u5ea6:<\/strong> \u7d042,000\u4eba\u301c4,000\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u751f\u307e\u308c\u308b\u3068\u8a00\u308f\u308c\u3066\u304a\u308a\u3001\u67d3\u8272\u4f53\u306e\u90e8\u5206\u7684\u306a\u6b20\u5931\u306b\u3088\u308b\u75c5\u6c17\u306e\u4e2d\u3067\u306f<strong>\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044<\/strong>\u3082\u306e\u3067\u3059\u3002\u6c7a\u3057\u3066\u300c\u6975\u3081\u3066\u7a00\u3067\u3001\u8ab0\u3082\u77e5\u3089\u306a\u3044\u75c5\u6c17\u300d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u6b20\u5931\u3057\u3066\u3044\u308b\u90e8\u5206\u306b\u306f\u3001\u4f53\u306e\u69d8\u3005\u306a\u5668\u5b98\u3092\u4f5c\u308b\u306b\u306e\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\uff08<em>TBX1<\/em>\u306a\u3069\u7d0430\u301c40\u500b\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5fc3\u81d3\u3001\u514d\u75ab\u3001\u53e3\u84cb\uff08\u53e3\u306e\u4e2d\u306e\u5929\u4e95\uff09\u3001\u5b66\u7fd2\u9762\u306a\u3069\u3001\u4f53\u306e\u8907\u6570\u306e\u5834\u6240\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E7%97%87%E7%8A%B6%E3%81%AE%E3%83%87%E3%83%91%E3%83%BC%E3%83%88%E3%80%8D%E3%81%A8%E5%91%BC%E3%81%B0%E3%82%8C%E3%82%8B%E7%90%86%E7%94%B1%E3%81%A8%E5%A4%9A%E6%A7%98%E6%80%A7\"><\/span><strong>\u300c\u75c7\u72b6\u306e\u30c7\u30d1\u30fc\u30c8\u300d\u3068\u547c\u3070\u308c\u308b\u7406\u7531\u3068\u591a\u69d8\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u300c\u4eba\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u3084\u91cd\u3055\u304c\u5168\u304f\u9055\u3046\u300d\u3068\u3044\u3046\u70b9\u3067\u3059\u3002 \u91cd\u3044\u5fc3\u81d3\u75c5\u3092\u6301\u3064\u304a\u5b50\u69d8\u3082\u3044\u308c\u3070\u3001\u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u6c17\u3065\u304b\u308c\u306a\u3044\u307b\u3069\u75c7\u72b6\u304c\u8efd\u3044\u65b9\u3082\u3044\u307e\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5144\u5f1f\u3084\u89aa\u5b50\u3067\u75c7\u72b6\u304c\u7570\u306a\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\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%EF%BC%88CATCH22%EF%BC%89\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff08CATCH22\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306f\u3001\u82f1\u8a9e\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u3066\u300cCATCH 22\uff08\u30ad\u30e3\u30c3\u30c1\u30fb\u30c8\u30a5\u30a8\u30f3\u30c6\u30a3\u30c8\u30a5\u30fc\uff09\u300d\u3068\u899a\u3048\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u4ee5\u5916\u306b\u3082\u591a\u69d8\u306a\u75c7\u72b6\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E5%BF%83%E7%96%BE%E6%82%A3%EF%BC%88Cardiac_defects%EF%BC%89%EF%BC%9A%E7%B4%8470%E3%80%9C80\"><\/span><strong>\u2460 \u5fc3\u75be\u60a3\uff08Cardiac defects\uff09\uff1a\u7d0470\u301c80%<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u307e\u308c\u3064\u304d\u5fc3\u81d3\u306e\u69cb\u9020\u306b\u4f55\u3089\u304b\u306e\u554f\u984c\u3092\u6301\u3064\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7:<\/strong> \u5fc3\u81d3\u306e\u90e8\u5c4b\u3092\u9694\u3066\u308b\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u306a\u3069\u306e4\u3064\u306e\u7279\u5fb4\u3092\u6301\u3064\u75c5\u6c17\u3002<\/li>\n\n\n\n<li><strong>\u5927\u52d5\u8108\u5f13\u96e2\u65ad\u3001\u7dcf\u52d5\u8108\u5e79\u75c7:<\/strong> \u8840\u7ba1\u306e\u3064\u306a\u304c\u308a\u65b9\u306e\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7:<\/strong> \u5fc3\u81d3\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u5bfe\u5fdc:<\/strong> \u591a\u304f\u306e\u5834\u5408\u306f\u3001\u4e73\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f\u306b\u304b\u3051\u3066\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u73fe\u5728\u306e\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u306e\u624b\u8853\u6280\u8853\u306f\u975e\u5e38\u306b\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u4e88\u5f8c\u306f\u826f\u597d\u306a\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Abnormal_facies%EF%BC%89%EF%BC%9A%E5%A4%9A%E3%81%8F%E3%81%AE%E6%82%A3%E8%80%85%E3%81%95%E3%82%93\"><\/span><strong>\u2461 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Abnormal facies\uff09\uff1a\u591a\u304f\u306e\u60a3\u8005\u3055\u3093<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u9854\u7acb\u3061\u306b\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3059\u308b\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001<strong>\u300c\u30d1\u30c3\u3068\u898b\u3066\u3059\u3050\u306b\u75c5\u6c17\u3060\u3068\u5206\u304b\u308b\u300d\u307b\u3069\u76ee\u7acb\u3064\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u5c11\u3057\u4f4e\u3044\u3001\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684\u3002<\/li>\n\n\n\n<li>\u307e\u3076\u305f\u304c\u5c11\u3057\u816b\u308c\u307c\u3063\u305f\u3044\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\uff08\u9f3b\u306e\u4ed8\u3051\u6839\uff09\u304c\u592a\u3044\u3001\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078:<\/strong> \u3053\u308c\u3089\u306f\u300c\u3054\u304f\u308f\u305a\u304b\u306a\u7279\u5fb4\u300d\u3067\u3042\u308a\u3001\u304a\u5b50\u69d8\u306e\u53ef\u611b\u3089\u3057\u3055\u3092\u640d\u306a\u3046\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E8%83%B8%E8%85%BA%E4%BD%8E%E5%BD%A2%E6%88%90%E3%83%BB%E5%85%8D%E7%96%AB%E6%A9%9F%E8%83%BD%E4%BD%8E%E4%B8%8B%EF%BC%88Thymic_hypoplasia%EF%BC%89%EF%BC%9A%E7%B4%8460%E3%80%9C70\"><\/span><strong>\u2462 \u80f8\u817a\u4f4e\u5f62\u6210\u30fb\u514d\u75ab\u6a5f\u80fd\u4f4e\u4e0b\uff08Thymic hypoplasia\uff09\uff1a\u7d0460\u301c70%<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80f8\u9aa8\u306e\u88cf\u5074\u306b\u3042\u308b\u300c\u80f8\u817a\uff08\u304d\u3087\u3046\u305b\u3093\uff09\u300d\u3068\u3044\u3046\u81d3\u5668\u304c\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u80f8\u817a\u306f\u3001\u4f53\u3092\u5b88\u308b\u514d\u75ab\u7d30\u80de\uff08T\u7d30\u80de\uff09\u3092\u80b2\u3066\u308b\u5b66\u6821\u306e\u3088\u3046\u306a\u5834\u6240\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6:<\/strong> \u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u3044\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3001\u6cbb\u308a\u306b\u304f\u3044\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u904e:<\/strong> \u591a\u304f\u306e\u5834\u5408\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u4ed6\u306e\u514d\u75ab\u6a5f\u80fd\u304c\u88dc\u3046\u3088\u3046\u306b\u306a\u308b\u305f\u3081\u3001\u6975\u7aef\u306a\u514d\u75ab\u4e0d\u5168\u304c\u7d9a\u304f\u3053\u3068\u306f\u7a00\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u751f\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\uff08BCG\u3001MR\u3001\u6c34\u75d8\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E5%8F%A3%E8%93%8B%E8%A3%82%E3%83%BB%E9%BC%BB%E5%A3%B0%EF%BC%88Cleft_palate%EF%BC%89%EF%BC%9A%E7%B4%8470\"><\/span><strong>\u2463 \u53e3\u84cb\u88c2\u30fb\u9f3b\u58f0\uff08Cleft palate\uff09\uff1a\u7d0470%<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u90e8\u5206\uff08\u53e3\u84cb\uff09\u306b\u554f\u984c\u304c\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2:<\/strong> \u8868\u9762\u306e\u7c98\u819c\u306f\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3051\u308c\u3069\u3001\u305d\u306e\u4e0b\u306e\u7b4b\u8089\u3084\u9aa8\u304c\u5272\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u308a\u306b\u304f\u3044\u3067\u3059\u304c\u3001\u300c\u304a\u3063\u3071\u3044\u3092\u98f2\u3080\u306e\u304c\u4e0b\u624b\uff08\u9f3b\u304b\u3089\u6f0f\u308c\u308b\uff09\u300d\u300c\u8a00\u8449\u304c\u30d5\u30ac\u30d5\u30ac\u3057\u3066\u805e\u304d\u53d6\u308a\u306b\u304f\u3044\uff08\u958b\u9f3b\u58f0\uff09\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u54fa\u4e73\u969c\u5bb3:<\/strong> \u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u3080\u305b\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E4%BD%8E%E3%82%AB%E3%83%AB%E3%82%B7%E3%82%A6%E3%83%A0%E8%A1%80%E7%97%87%EF%BC%88Hypocalcemia%EF%BC%89%EF%BC%9A%E7%B4%8450\"><\/span><strong>\u2464 \u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff08Hypocalcemia\uff09\uff1a\u7d0450%<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5589\u306b\u3042\u308b\u300c\u526f\u7532\u72b6\u817a\u300d\u306e\u50cd\u304d\u304c\u5f31\u304f\u3001\u8840\u6db2\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u4e0b\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6:<\/strong> \u624b\u8db3\u306e\u9707\u3048\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5bfe\u5fdc:<\/strong> \u65b0\u751f\u5150\u671f\u306b\u4e00\u6642\u7684\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u30ab\u30eb\u30b7\u30a6\u30e0\u5264\u3084\u30d3\u30bf\u30df\u30f3D\u88fd\u5264\u306e\u88dc\u5145\u304c\u5fc5\u8981\u306a\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A5_%E7%99%BA%E9%81%94%E3%81%A8%E5%AD%A6%E7%BF%92%E3%80%81%E7%B2%BE%E7%A5%9E%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2465 \u767a\u9054\u3068\u5b66\u7fd2\u3001\u7cbe\u795e\u9762\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u767a\u9054:<\/strong> \u5168\u4f53\u7684\u306b\u3086\u3063\u304f\u308a\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u304d\u59cb\u3081\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8449:<\/strong> \u8a00\u8449\u304c\u51fa\u59cb\u3081\u308b\u306e\u304c\u9045\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u8efd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">LD<\/a>\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u7b97\u6570\u3084\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u304c\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u8a18\u61b6\u529b\u3084\u8a00\u8a9e\u80fd\u529b\uff08\u304a\u558b\u308a\uff09\u306f\u6bd4\u8f03\u7684\u5f97\u610f\u306a\u5b50\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u9762:<\/strong> \u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u306a\u3069\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u3084ADHD\u306e\u7279\u6027\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u601d\u6625\u671f\u4ee5\u964d\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u4e00\u822c\u3088\u308a\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A6_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u2466 \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u81d3:<\/strong> \u7247\u65b9\u306e\u814e\u81d3\u304c\u306a\u3044\u3001\u5f62\u304c\u9055\u3046\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u8033\u30fb\u9f3b\u30fb\u5589:<\/strong> \u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3001\u96e3\u8074\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u304c\u66f2\u304c\u308b\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\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\"><\/span><strong>3. \u539f\u56e0\u3068\u907a\u4f1d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>22\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u3001\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001**\u7a81\u7136\u5909\u7570\uff08de novo\uff1a\u30c7\u30fb\u30ce\u30dc\uff09**\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002 \u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u304c\u7d30\u80de\u5206\u88c2\u3092\u59cb\u3081\u305f\u76f4\u5f8c\u306b\u3001\u5076\u7136\u306e\u30a8\u30e9\u30fc\u3068\u3057\u3066\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5927\u5207\u306b\u304a\u4f1d\u3048\u3057\u305f\u3044\u3053\u3068\uff1a<\/strong> \u304a\u6bcd\u69d8\u306e\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3001\u904b\u52d5\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u85ac\u306e\u670d\u7528\u3001\u4ed5\u4e8b\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u3063\u305f\u3082\u306e\u3067\u306f\u6c7a\u3057\u3066\u3042\u308a\u307e\u305b\u3093\u3002<strong>\u300c\u89aa\u306e\u305b\u3044\u3067\u306a\u3063\u305f\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u5168\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span><strong>\u907a\u4f1d\u306e\u53ef\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d0490%:<\/strong> \u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u7570\u5e38\u304c\u306a\u304f\u3001\u304a\u5b50\u69d8\u306e\u4ee3\u3067\u521d\u3081\u3066\u767a\u751f\u3057\u305f\uff08\u5b64\u767a\u4f8b\uff09\u30b1\u30fc\u30b9\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3001\u4e00\u822c\u306e\u592b\u5a66\u3068\u307b\u3068\u3093\u3069\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u7d0410%:<\/strong> \u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u3001\u5b9f\u306f\u8efd\u5ea6\u306e22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u6301\u3063\u3066\u304a\u308a\uff08\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u3082\u591a\u3044\uff09\u3001\u305d\u308c\u304c\u304a\u5b50\u69d8\u306b\u907a\u4f1d\u3057\u305f\u30b1\u30fc\u30b9\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u75c5\u6c17\u306f\u300c\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\u300d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u304c\u3053\u306e\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u304a\u5b50\u69d8\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u6b21\u306e\u304a\u5b50\u69d8\u3092\u5e0c\u671b\u3055\u308c\u308b\u5834\u5408\u306a\u3069\u3001\u8a73\u3057\u304f\u306f\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\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\/2026\/01\/33945516_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121516\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E6%B3%95%EF%BC%88%E3%83%95%E3%82%A3%E3%83%83%E3%82%B7%E3%83%A5%E6%B3%95%EF%BC%89\"><\/span><strong>FISH\u6cd5\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u524d\u304b\u3089\u884c\u308f\u308c\u3066\u3044\u308b\u691c\u67fb\u3067\u3059\u3002\u300c22q11.2\u9818\u57df\u300d\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u8abf\u3079\u307e\u3059\u3002\u7d50\u679c\u304c\u51fa\u308b\u306e\u304c\u6bd4\u8f03\u7684\u65e9\u3044\u3067\u3059\u3002<\/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\u4e3b\u6d41\u3068\u306a\u3063\u3066\u3044\u308b\u7cbe\u5bc6\u691c\u67fb\u3067\u3059\u3002\u67d3\u8272\u4f53\u306e\u5168\u9818\u57df\u3092\u7d30\u304b\u304f\u30b9\u30ad\u30e3\u30f3\u3057\u307e\u3059\u3002\u6b20\u5931\u306e\u6709\u7121\u3060\u3051\u3067\u306a\u304f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u306a\u3069\u3082\u6b63\u78ba\u306b\u5206\u304b\u308a\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%E8%A8%BA%E6%96%AD%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%AA%E3%81%AE%E3%81%8B\"><\/span><strong>\u306a\u305c\u8a3a\u65ad\u304c\u5fc5\u8981\u306a\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u907a\u4f1d\u5b50\u306e\u75c5\u6c17\u306a\u3089\u6cbb\u3089\u306a\u3044\u306e\u306b\u3001\u8a3a\u65ad\u3059\u308b\u610f\u5473\u304c\u3042\u308b\u306e\uff1f\u300d\u3068\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002 \u3057\u304b\u3057\u3001\u65e9\u671f\u306b\u8a3a\u65ad\u304c\u3064\u304f\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u30e1\u30ea\u30c3\u30c8\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u96a0\u308c\u305f\u5408\u4f75\u75c7\u3092\u898b\u3064\u3051\u3089\u308c\u308b:<\/strong> \u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u3089\u306a\u3044\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3084\u814e\u81d3\u306e\u554f\u984c\u306a\u3069\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u6cbb\u7642\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u3089\u308c\u308b:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u5b66\u7fd2\u306e\u56f0\u96e3\u3055\u306b\u5bfe\u3057\u3066\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\u7684\u652f\u63f4\u3092\u958b\u59cb\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u898b\u901a\u3057\u304c\u7acb\u3064:<\/strong> \u5c06\u6765\u8d77\u3053\u308a\u3046\u308b\u30ea\u30b9\u30af\uff08\u7cbe\u795e\u9762\u306a\u3069\uff09\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u5909\u5316\u304c\u3042\u3063\u305f\u6642\u306b\u3059\u3050\u306b\u5bfe\u5fdc\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%B9%B4%E4%BB%A3%E5%88%A5%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u5e74\u4ee3\u5225\u306e\u30dd\u30a4\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u300c\u5b8c\u6cbb\u300d\u3067\u306f\u306a\u304f\u300c\u7ba1\u7406\uff08\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff09\u300d\u3068\u3044\u3046\u8996\u70b9\u3067\u3001\u304a\u5b50\u69d8\u306eQOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u9ad8\u3081\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%8C%E9%87%8D%E8%A6%81\"><\/span><strong>\u30c1\u30fc\u30e0\u533b\u7642\u304c\u91cd\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u81d3\u3001\u514d\u75ab\u3001\u5185\u5206\u6ccc\u3001\u5f62\u6210\u5916\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u7cbe\u795e\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\u3001\u591a\u304f\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\u304b\u304b\u308a\u3064\u3051\u306e\u5c0f\u5150\u79d1\u533b\u3092\u300c\u53f8\u4ee4\u5854\u300d\u3068\u3057\u3066\u3001\u5c02\u9580\u533b\u3068\u9023\u643a\u3092\u53d6\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B9%B4%E4%BB%A3%E5%88%A5%E3%81%AE%E3%82%B1%E3%82%A2%E3%81%AE%E7%9B%AE%E5%AE%89\"><\/span><strong>\u5e74\u4ee3\u5225\u306e\u30b1\u30a2\u306e\u76ee\u5b89<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u4e73\u5150\u671f\uff080\u301c1\u6b73\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u512a\u5148:<\/strong> \u5fc3\u75be\u60a3\u306e\u6cbb\u7642\u3068\u624b\u8853\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306e\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a:<\/strong> \u30df\u30eb\u30af\u306e\u98f2\u307f\u304c\u60aa\u304b\u3063\u305f\u308a\u3001\u5410\u304d\u623b\u3057\u305f\u308a\u3057\u3084\u3059\u3044\u305f\u3081\u3001\u6804\u990a\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u4e88\u9632:<\/strong> \u514d\u75ab\u6a5f\u80fd\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u3067\u3042\u308c\u3070\u611f\u67d3\u5bfe\u7b56\u3092\u5f37\u5316\u3057\u307e\u3059\uff08\u30b7\u30ca\u30b8\u30b9\u6ce8\u5c04\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u5e7c\u5150\u671f\uff081\u301c6\u6b73\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8449\u3068\u805e\u3053\u3048:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u767a\u97f3\u306e\u4e0d\u660e\u77ad\u3055\uff08\u9f3b\u58f0\uff09\u304c\u6c17\u306b\u306a\u308a\u59cb\u3081\u307e\u3059\u3002\u4e2d\u8033\u708e\u306b\u3088\u308b\u96e3\u8074\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8a00\u8a9e\u8074\u899a\u58eb\uff08ST\uff09\u306b\u3088\u308b\u8a00\u8a9e\u7642\u6cd5\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u306e\u624b\u8853:<\/strong> \u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u304c\u3042\u308a\u3001\u8a00\u8449\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u3044\u5834\u5408\u306f\u3001\u624b\u8853\uff08\u54bd\u982d\u5f01\u5f62\u6210\u8853\u306a\u3069\uff09\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u652f\u63f4:<\/strong> \u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306b\u901a\u3044\u3001\u904b\u52d5\u3084\u793e\u4f1a\u6027\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u5b66\u7ae5\u671f\uff086\u301c12\u6b73\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong> \u7b97\u6570\u3084\u62bd\u8c61\u7684\u306a\u6587\u7ae0\u984c\u306b\u3064\u307e\u305a\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u901a\u5e38\u306e\u5b66\u7d1a\u3067\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3092\u5229\u7528\u3057\u305f\u308a\u3001\u652f\u63f4\u5b66\u7d1a\u3092\u9078\u629e\u3057\u305f\u308a\u3068\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u74b0\u5883\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002\u300c\u6020\u3051\u3066\u3044\u308b\u300d\u306e\u3067\u306f\u306a\u304f\u300c\u7279\u6027\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u5b66\u6821\u5074\u306b\u7406\u89e3\u3057\u3066\u3082\u3089\u3046\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u75db\u307f:<\/strong> \u300c\u8db3\u304c\u75db\u3044\u300d\u3068\u8a34\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u75db\u3084\u504f\u5e73\u8db3\u306a\u3069\u304c\u539f\u56e0\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u6574\u5f62\u5916\u79d1\u3067\u30a4\u30f3\u30bd\u30fc\u30eb\u3092\u4f5c\u6210\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u601d\u6625\u671f\u30fb\u9752\u5e74\u671f\uff0812\u6b73\u301c\uff09<\/strong><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong> \u4e0d\u5b89\u3001\u5f15\u304d\u3053\u3082\u308a\u3001\u6025\u6fc0\u306a\u6027\u683c\u306e\u5909\u5316\u306a\u3069\u304c\u898b\u3089\u308c\u305f\u3089\u3001\u65e9\u3081\u306b\u7cbe\u795e\u79d1\u3084\u5fc3\u7642\u5185\u79d1\u306b\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u690e\u5074\u5f2f\u75c7:<\/strong> \u5b66\u6821\u691c\u8a3a\u306a\u3069\u3067\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u79fb\u884c\u671f\u533b\u7642:<\/strong> \u5c0f\u5150\u79d1\u304b\u3089\u6210\u4eba\u306e\u8a3a\u7642\u79d1\u3078\u3001\u30b9\u30e0\u30fc\u30ba\u306b\u79fb\u884c\u3067\u304d\u308b\u3088\u3046\u6e96\u5099\u3092\u59cb\u3081\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>6. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u591a\u69d8\u306a\u9854\u3092\u6301\u3064\u75c5\u6c17\u3067\u3059\u304c\u3001\u533b\u5b66\u7684\u306a\u7ba1\u7406\u6cd5\u306f\u975e\u5e38\u306b\u3088\u304f\u6574\u5099\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u5168\u4f53\u50cf:<\/strong> \u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u5fc3\u81d3\u3001\u514d\u75ab\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u3001\u53e3\u84cb\u3001\u767a\u9054\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u5168\u54e1\u306b\u5168\u3066\u304c\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0:<\/strong> \u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u5fa1\u3055\u3093\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u5bfe\u7b56:<\/strong> \u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u5e74\u9f62\u306b\u5fdc\u3058\u305f\u7642\u80b2\u30fb\u6559\u80b2\u7684\u652f\u63f4\u3067\u3001\u8c4a\u304b\u306a\u4eba\u751f\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E8%A8%BA%E6%96%AD%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>7. \u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u306f\u3001\u304a\u5b50\u69d8\u306e\u4e00\u90e8\u3092\u8868\u3057\u3066\u3044\u308b\u306b\u904e\u304e\u307e\u305b\u3093\u3002 \u304a\u5b50\u69d8\u306f\u300c\u75c7\u5019\u7fa4\u305d\u306e\u3082\u306e\u300d\u3067\u306f\u306a\u304f\u3001\u7b11\u9854\u304c\u7d20\u6575\u3060\u3063\u305f\u308a\u3001\u97f3\u697d\u304c\u597d\u304d\u3060\u3063\u305f\u308a\u3001\u512a\u3057\u3044\u6027\u683c\u3060\u3063\u305f\u308a\u3059\u308b\u3001\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u4e00\u4eba\u306e\u4eba\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3059\u308b\u3068\u3001\u91cd\u7be4\u306a\u75c7\u72b6\u3084\u5c06\u6765\u306e\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u306a\u3069\u3001\u6016\u3044\u60c5\u5831\u3070\u304b\u308a\u304c\u76ee\u306b\u5165\u3063\u3066\u304f\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306e\u60c5\u5831\u306f\u300c\u53ef\u80fd\u6027\u306e\u3042\u308b\u3059\u3079\u3066\u306e\u3053\u3068\u300d\u3092\u7f85\u5217\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5fc5\u305a\u3057\u3082\u3042\u306a\u305f\u306e\u304a\u5b50\u69d8\u306b\u5f53\u3066\u306f\u307e\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002 \u5b9f\u969b\u306b\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u3001\u624b\u8853\u3092\u4e57\u308a\u8d8a\u3048\u3001\u5b66\u6821\u306b\u901a\u3044\u3001\u8da3\u5473\u3092\u697d\u3057\u307f\u3001\u4ed5\u4e8b\u3092\u3057\u3066\u3001\u793e\u4f1a\u306e\u4e00\u54e1\u3068\u3057\u3066\u751f\u6d3b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u6bd4\u8f03\u7684\u60a3\u8005\u6570\u304c\u591a\u3044\u305f\u3081\u3001\u65e5\u672c\u56fd\u5185\u306b\u3082\u3057\u3063\u304b\u308a\u3068\u3057\u305f\u300c\u89aa\u306e\u4f1a\uff08\u5bb6\u65cf\u4f1a\uff09\u300d\u304c\u5b58\u5728\u3057\u307e\u3059\u3002 \u5148\u8f29\u5bb6\u65cf\u306e\u8a71\u3092\u805e\u304f\u3053\u3068\u306f\u3001\u533b\u5e2b\u306e\u8aac\u660e\u4ee5\u4e0a\u306b\u3001\u5177\u4f53\u7684\u306a\u751f\u6d3b\u306e\u30a4\u30e1\u30fc\u30b8\u3084\u5b89\u5fc3\u611f\u3092\u4e0e\u3048\u3066\u304f\u308c\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>22\u30cf\u30fc\u30c8\u30af\u30e9\u30d6:<\/strong> 22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u5bb6\u65cf\u4f1a\u3067\u3059\u3002\u4ea4\u6d41\u4f1a\u3084\u52c9\u5f37\u4f1a\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c02\u9580\u533b\u306e\u30b5\u30dd\u30fc\u30c8:<\/strong> \u65e5\u672c\u306b\u306f\u3053\u306e\u75c7\u5019\u7fa4\u306e\u8a3a\u7642\u306b\u8a73\u3057\u3044\u5c02\u9580\u533b\u304c\u5404\u5730\u306b\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u4eca\u65e5\u3001\u3059\u3079\u3066\u306e\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u6c7a\u3081\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u5b50\u69d8\u306e\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u3001\u4e00\u3064\u3072\u3068\u3064\u8ab2\u984c\u3092\u30af\u30ea\u30a2\u3057\u3066\u3044\u3051\u3070\u5927\u4e08\u592b\u3067\u3059\u3002\u533b\u7642\u30c1\u30fc\u30e0\u3082\u3001\u652f\u63f4\u8005\u3082\u3001\u305d\u3057\u3066\u540c\u3058\u7d4c\u9a13\u3092\u6301\u3064\u4ef2\u9593\u3082\u3001\u307f\u3093\u306a\u3042\u306a\u305f\u306e\u5473\u65b9\u3067\u3059\u3002 \u304a\u5b50\u69d8\u306e\u3053\u308c\u304b\u3089\u306e\u4eba\u751f\u304c\u3001\u305f\u304f\u3055\u3093\u306e\u7b11\u9854\u3068\u5e0c\u671b\u3067\u6e80\u305f\u3055\u308c\u308b\u3053\u3068\u3092\u5fc3\u304b\u3089\u5fdc\u63f4\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u306f\u3058\u3081\u306b \u304a\u5b50\u69d8\u304c\u300c22q11.2\u6b20\u5931\u75c7&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":88,"featured_media":121516,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121755","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121755","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/88"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121755"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121755\/revisions"}],"predecessor-version":[{"id":121762,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121755\/revisions\/121762"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121516"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121755"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121755"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121755"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}