{"id":121751,"date":"2026-01-07T16:47:54","date_gmt":"2026-01-07T07:47:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121751"},"modified":"2026-01-07T17:52:43","modified_gmt":"2026-01-07T08:52:43","slug":"22q13-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/","title":{"rendered":"22q13\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"585\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/image-87-1024x585.webp\" alt=\"\" class=\"wp-image-119778\"\/><\/figure>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E7%AB%AF%E3%81%A3%E3%81%93%E3%80%8D%E3%81%8C%E5%A4%B1%E3%82%8F%E3%82%8C%E3%82%8B%E7%97%85%E6%B0%97\" >\u67d3\u8272\u4f53\u306e\u300c\u7aef\u3063\u3053\u300d\u304c\u5931\u308f\u308c\u308b\u75c5\u6c17<\/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\/22q13-deletion-syndrome\/#%E9%87%8D%E8%A6%81%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%80%8CSHANK3%E3%80%8D%E3%81%AE%E6%A9%9F%E8%83%BD%E4%BD%8E%E4%B8%8B\" >\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u300cSHANK3\u300d\u306e\u6a5f\u80fd\u4f4e\u4e0b<\/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\/22q13-deletion-syndrome\/#%E5%91%BC%E3%81%B3%E5%90%8D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u547c\u3073\u540d\u306b\u3064\u3044\u3066<\/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\/22q13-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >2. \u4e3b\u306a\u75c7\u72b6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E2%91%A0_%E5%85%A8%E4%BD%93%E7%9A%84%E3%81%AA%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%EF%BC%88%E7%89%B9%E3%81%AB%E3%80%8C%E8%A8%80%E8%91%89%E3%80%8D%EF%BC%89\" >\u2460 \u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u9045\u308c\uff08\u7279\u306b\u300c\u8a00\u8449\u300d\uff09<\/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\/22q13-deletion-syndrome\/#%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%A1%8C%E5%8B%95%E3%81%A8%E8%87%AA%E9%96%89%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E7%97%87%EF%BC%88ASD%EF%BC%89%E6%A7%98%E7%97%87%E7%8A%B6\" >\u2461 \u7279\u5fb4\u7684\u306a\u884c\u52d5\u3068\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u75c7\u72b6<\/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\/22q13-deletion-syndrome\/#%E2%91%A2_%E7%97%9B%E3%81%BF%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E9%88%8D%E6%84%9F%E3%81%95%EF%BC%88%E9%87%8D%E8%A6%81%EF%BC%89\" >\u2462 \u75db\u307f\u306b\u5bfe\u3059\u308b\u920d\u611f\u3055\uff08\u91cd\u8981\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E2%91%A3_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >\u2463 \u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E2%91%A4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >\u2464 \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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0\" >3. \u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%9F\" >\u306a\u305c\u8d77\u3053\u308b\u306e\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E7%A8%80%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%9A%E3%83%AA%E3%83%B3%E3%82%B0%E6%9F%93%E8%89%B2%E4%BD%93%E3%82%84%E8%BB%A2%E5%BA%A7\" >\u7a00\u306a\u30b1\u30fc\u30b9\uff1a\u30ea\u30f3\u30b0\u67d3\u8272\u4f53\u3084\u8ee2\u5ea7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E6%A4%9C%E6%9F%BB\" >\u305d\u306e\u4ed6\u306e\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >5. \u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E2%91%A0_%E7%99%82%E8%82%B2%E3%83%BB%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88%E6%97%A9%E6%9C%9F%E4%BB%8B%E5%85%A5%EF%BC%89\" >\u2460 \u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E2%91%A1_%E5%8C%BB%E7%99%82%E7%9A%84%E7%AE%A1%E7%90%86\" >\u2461 \u533b\u7642\u7684\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#%E2%91%A2_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E6%B3%A8%E6%84%8F%E7%82%B9\" >\u2462 \u65e5\u5e38\u751f\u6d3b\u3067\u306e\u6ce8\u610f\u70b9<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#6_%E5%B0%86%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B%E3%81%A8%E7%A0%94%E7%A9%B6\" >6. \u5c06\u6765\u306e\u5c55\u671b\u3068\u7814\u7a76<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/#7_%E3%81%BE%E3%81%A8%E3%82%81\" >7. \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\/22q13-deletion-syndrome\/#8_%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\" >8. \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\u300c22q13\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3001\u3042\u308b\u3044\u306f\u5225\u540d\u306e\u300c\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff08Phelan-McDermid Syndrome: PMS\uff09\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3001\u591a\u304f\u306e\u7591\u554f\u3084\u4e0d\u5b89\u3092\u62b1\u3048\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\u300d\u3084\u300cSHANK3\u907a\u4f1d\u5b50\u300d\u3068\u3044\u3063\u305f\u805e\u304d\u306a\u308c\u306a\u3044\u8a00\u8449\u306e\u9023\u7d9a\u306b\u3001\u982d\u304c\u771f\u3063\u767d\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u306e\u306f\u7121\u7406\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u75c5\u6c17\u306f\u5e0c\u5c11\u75be\u60a3\uff08\u60a3\u8005\u6570\u306e\u5c11\u306a\u3044\u75c5\u6c17\uff09\u3067\u3042\u308a\u3001\u65e5\u672c\u8a9e\u3067\u306e\u8a73\u3057\u3044\u60c5\u5831\u304c\u898b\u3064\u304b\u308a\u306b\u304f\u3044\u3053\u3068\u3082\u3001\u4e0d\u5b89\u3092\u5927\u304d\u304f\u3055\u305b\u308b\u8981\u56e0\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u3069\u306e\u3088\u3046\u306a\u3082\u306e\u304b\u3001\u3053\u308c\u304b\u3089\u3069\u306e\u3088\u3046\u306a\u3053\u3068\u306b\u6c17\u3092\u3064\u3051\u3066\u751f\u6d3b\u3057\u3066\u3044\u3051\u3070\u3088\u3044\u306e\u304b\u3092\u3001\u3054\u5bb6\u65cf\u306e\u8996\u70b9\u306b\u7acb\u3063\u3066\u5206\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3059\u308b\u305f\u3081\u306b\u4f5c\u6210\u3055\u308c\u307e\u3057\u305f\u3002\u307e\u305a\u306f\u6df1\u547c\u5438\u3092\u3057\u3066\u3001\u4e00\u3064\u305a\u3064\u60c5\u5831\u3092\u6574\u7406\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%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E7%AB%AF%E3%81%A3%E3%81%93%E3%80%8D%E3%81%8C%E5%A4%B1%E3%82%8F%E3%82%8C%E3%82%8B%E7%97%85%E6%B0%97\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u7aef\u3063\u3053\u300d\u304c\u5931\u308f\u308c\u308b\u75c5\u6c17<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u7121\u6570\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u5fc3\u306b\u3042\u308b\u6838\u306e\u4e2d\u306b\u306f\u3001\u907a\u4f1d\u60c5\u5831\u304c\u8a70\u307e\u3063\u305f\u300c\u67d3\u8272\u4f53\u300d\u304c46\u672c\uff0823\u5bfe\uff09\u5165\u3063\u3066\u3044\u307e\u3059\u3002 22q13\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300122\u756a\u76ee\u306b\u3042\u308b\u5e38\u67d3\u8272\u4f53\uff0822\u756a\u67d3\u8272\u4f53\uff09\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\uff0813\u3068\u3044\u3046\u5834\u6240\uff09\u304c\u6b20\u3051\u3066\u3057\u307e\u3046\u3001\u3042\u308b\u3044\u306f\u69cb\u9020\u304c\u5909\u5316\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E8%A6%81%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%80%8CSHANK3%E3%80%8D%E3%81%AE%E6%A9%9F%E8%83%BD%E4%BD%8E%E4%B8%8B\"><\/span><strong>\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u300cSHANK3\u300d\u306e\u6a5f\u80fd\u4f4e\u4e0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e22q13\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u3068\u3063\u3066\u6975\u3081\u3066\u91cd\u8981\u306a**SHANK3\uff08\u30b7\u30e3\u30f3\u30af\u30b9\u30ea\u30fc\uff09**\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SHANK3\u306e\u5f79\u5272:<\/strong> \u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u540c\u58eb\u304c\u3064\u306a\u304c\u3063\u3066\u60c5\u5831\u3092\u3084\u308a\u53d6\u308a\u3059\u308b\u5834\u6240\u3092\u300c\u30b7\u30ca\u30d7\u30b9\u300d\u3068\u547c\u3073\u307e\u3059\u3002SHANK3\u907a\u4f1d\u5b50\u306f\u3001\u3053\u306e\u30b7\u30ca\u30d7\u30b9\u304c\u3057\u3063\u304b\u308a\u3068\u5f62\u4f5c\u3089\u308c\u3001\u6b63\u3057\u304f\u6a5f\u80fd\u3059\u308b\u305f\u3081\u306e\u300c\u571f\u53f0\u300d\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u672c\u8cea\u306f\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u3088\u3063\u3066SHANK3\u907a\u4f1d\u5b50\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u3001<strong>\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u60c5\u5831\u306e\u4f1d\u9054\uff09\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u3044\u304b\u306a\u304f\u306a\u308b\u3053\u3068<\/strong>\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8a00\u8449\u306e\u554f\u984c\u306a\u3069\u3001\u69d8\u3005\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%BC%E3%81%B3%E5%90%8D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u547c\u3073\u540d\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u524d\u306f\u300c22q13\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u3067\u306f\u767a\u898b\u8005\u306e\u540d\u524d\u306b\u3061\u306a\u3093\u3067\u300c\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff08PMS\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e16\u754c\u7684\u306b\u4e00\u822c\u7684\u306b\u306a\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u3082\u3001\u4e21\u65b9\u306e\u540d\u79f0\u3092\u7528\u3044\u307e\u3059\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\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u3084\u91cd\u3055\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u67d3\u8272\u4f53\u306e\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u3001\u500b\u4eba\u306b\u3088\u3063\u3066\u975e\u5e38\u306b\u5927\u304d\u306a\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u5168\u3066\u306e\u75c7\u72b6\u304c\u5fc5\u305a\u51fa\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u3066\u304a\u8aad\u307f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E5%85%A8%E4%BD%93%E7%9A%84%E3%81%AA%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%EF%BC%88%E7%89%B9%E3%81%AB%E3%80%8C%E8%A8%80%E8%91%89%E3%80%8D%EF%BC%89\"><\/span><strong>\u2460 \u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u9045\u308c\uff08\u7279\u306b\u300c\u8a00\u8449\u300d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09:<\/strong> \u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3050\u306b\u3083\u308a\u3068\u3057\u305f\u611f\u3058\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u304c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002\u767a\u8a9e\u304c\u306a\u3044\uff08\u8a71\u3055\u306a\u3044\uff09\u304a\u5b50\u69d8\u3082\u3044\u308c\u3070\u3001\u5358\u8a9e\u3084\u77ed\u3044\u6587\u3092\u8a71\u3059\u304a\u5b50\u69d8\u3082\u3044\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u89e3\u529b\u306f\u6bd4\u8f03\u7684\u9ad8\u3044:<\/strong> \u8a71\u3059\u3053\u3068\u306f\u82e6\u624b\u3067\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u7406\u89e3\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%A1%8C%E5%8B%95%E3%81%A8%E8%87%AA%E9%96%89%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E7%97%87%EF%BC%88ASD%EF%BC%89%E6%A7%98%E7%97%87%E7%8A%B6\"><\/span><strong>\u2461 \u7279\u5fb4\u7684\u306a\u884c\u52d5\u3068\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u3068\u4f3c\u305f\u884c\u52d5\u7279\u6027\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bfe\u4eba\u95a2\u4fc2\u306e\u7279\u6027:<\/strong> \u76ee\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u4e00\u4eba\u904a\u3073\u3092\u597d\u3080\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u306e\u904e\u654f\u3055\u30fb\u920d\u9ebb:<\/strong> \u7279\u5b9a\u306e\u97f3\u3092\u5acc\u304c\u308b\u3001\u3042\u308b\u3044\u306f\u7279\u5b9a\u306e\u611f\u89e6\u3092\u597d\u3080\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u565b\u3080\u884c\u52d5:<\/strong> \u624b\u3084\u670d\u3001\u304a\u3082\u3061\u3083\u306a\u3069\u3092\u983b\u7e41\u306b\u565b\u3080\uff08\u30c1\u30e5\u30fc\u30a4\u30f3\u30b0\uff09\u884c\u52d5\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u611f\u899a\u523a\u6fc0\u3092\u6c42\u3081\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u6b6f\u304c\u751f\u3048\u308b\u4e0d\u5feb\u611f\u306a\u3069\u304c\u539f\u56e0\u306e\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%97%9B%E3%81%BF%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E9%88%8D%E6%84%9F%E3%81%95%EF%BC%88%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>\u2462 \u75db\u307f\u306b\u5bfe\u3059\u308b\u920d\u611f\u3055\uff08\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u7279\u306b\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u304c\u3001\u75db\u307f\u306b\u5f37\u3044\uff08\u75db\u899a\u920d\u9ebb\uff09\u3068\u3044\u3046\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8ee2\u3093\u3067\u602a\u6211\u3092\u3057\u305f\u308a\u3001\u3069\u3053\u304b\u306b\u3076\u3064\u3051\u305f\u308a\u3057\u3066\u3082\u6ce3\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e2d\u8033\u708e\u3084\u9aa8\u6298\u3092\u3057\u3066\u3044\u3066\u3082\u3001\u75db\u304c\u3089\u305a\u306b\u666e\u6bb5\u901a\u308a\u306b\u3057\u3066\u3044\u308b\u3053\u3068\u3055\u3048\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u70b9:<\/strong> \u300c\u6ce3\u3044\u3066\u3044\u306a\u3044\u304b\u3089\u5927\u4e08\u592b\u300d\u3068\u601d\u308f\u305a\u3001\u4f53\u306b\u50b7\u304c\u306a\u3044\u304b\u3001\u816b\u308c\u3066\u3044\u306a\u3044\u304b\u3092\u89aa\u5fa1\u3055\u3093\u304c\u6c17\u3092\u3064\u3051\u3066\u898b\u3066\u3042\u3052\u308b\u5fc5\u8981\u304c\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%A3_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2463 \u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9854\u3064\u304d\u3084\u8eab\u4f53\u3064\u304d\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3059\u308b\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3089\u306f\u300c\u308f\u305a\u304b\u306a\u7279\u5fb4\uff08\u5c0f\u5947\u5f62\uff09\u300d\u3067\u3042\u308a\u3001\u30d1\u30c3\u3068\u898b\u3066\u3059\u3050\u306b\u5206\u304b\u308b\u307b\u3069\u76ee\u7acb\u3064\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u307e\u3064\u6bdb\u304c\u9577\u3044<\/li>\n\n\n\n<li>\u8033\u304c\u5927\u304d\u3044\u3001\u307e\u305f\u306f\u5f62\u304c\u7279\u5fb4\u7684<\/li>\n\n\n\n<li>\u624b\u304c\u5927\u304d\u3044\u3001\u722a\u304c\u8584\u3044<\/li>\n\n\n\n<li>\u8db3\u306e\u6210\u9577\u304c\u901f\u3044<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u2464 \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>\u3066\u3093\u304b\u3093:<\/strong> \u7d0430\u301c40%\u306e\u65b9\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u307c\u30fc\u3063\u3068\u3059\u308b\u3060\u3051\u306e\u767a\u4f5c\u304b\u3089\u3001\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\u75c7\u72b6:<\/strong> \u80c3\u98df\u9053\u9006\u6d41\uff08\u5410\u304d\u623b\u3057\uff09\u3001\u4fbf\u79d8\u3001\u4e0b\u75e2\u306a\u3069\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u554f\u984c:<\/strong> \u814e\u81d3\u306e\u5f62\u3084\u6a5f\u80fd\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6642\u306b\u8d85\u97f3\u6ce2\u691c\u67fb\u306a\u3069\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30f3\u30d1\u6d6e\u816b:<\/strong> \u7a00\u3067\u3059\u304c\u3001\u8db3\u306a\u3069\u304c\u3080\u304f\u307f\u3084\u3059\u3044\u4f53\u8cea\uff08\u30ea\u30f3\u30d1\u6db2\u306e\u6d41\u308c\u304c\u60aa\u3044\uff09\u306e\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9000\u884c\uff08\u30b9\u30ad\u30eb\u30ed\u30b9\uff09:<\/strong> \u7a00\u306b\u3001\u601d\u6625\u671f\u3084\u6210\u4eba\u671f\u3001\u3042\u308b\u3044\u306f\u5f37\u3044\u30b9\u30c8\u30ec\u30b9\u304c\u304b\u304b\u3063\u305f\u6642\u306b\u3001\u3053\u308c\u307e\u3067\u51fa\u6765\u3066\u3044\u305f\u3053\u3068\u304c\u51fa\u6765\u306a\u304f\u306a\u308b\u300c\u9000\u884c\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\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\"><\/span><strong>3. \u539f\u56e0<\/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%EF%BC%9F\"><\/span><strong>\u306a\u305c\u8d77\u3053\u308b\u306e\u304b\uff1f<\/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 \u3053\u308c\u306f\u3001\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> \u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u6301\u3063\u3066\u3044\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff08\u907a\u4f1d\u6027\u3067\u306f\u306a\u3044\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3067\u3059\uff09\u3002 \u307e\u305f\u3001<strong>\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3001\u904b\u52d5\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u85ac\u306e\u670d\u7528\u306a\u3069\u3001\u304a\u6bcd\u69d8\u306e\u884c\u52d5\u304c\u539f\u56e0\u3067\u8d77\u3053\u3063\u305f\u3082\u306e\u3067\u306f\u6c7a\u3057\u3066\u3042\u308a\u307e\u305b\u3093\u3002<\/strong> \u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u3001\u81ea\u7136\u767a\u751f\u7684\u306a\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A8%80%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%9A%E3%83%AA%E3%83%B3%E3%82%B0%E6%9F%93%E8%89%B2%E4%BD%93%E3%82%84%E8%BB%A2%E5%BA%A7\"><\/span><strong>\u7a00\u306a\u30b1\u30fc\u30b9\uff1a\u30ea\u30f3\u30b0\u67d3\u8272\u4f53\u3084\u8ee2\u5ea7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7a00\u306b\u3001\u67d3\u8272\u4f53\u304c\u30ea\u30f3\u30b0\u72b6\uff08\u74b0\u72b622\u756a\u67d3\u8272\u4f53\uff09\u306b\u306a\u3063\u3066\u3044\u305f\u308a\u3001\u89aa\u5fa1\u3055\u3093\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\uff08\u304d\u3093\u3053\u3046\u304c\u305f\u3066\u3093\u3056\u307b\u3044\u3093\u3057\u3083\uff09\u300d\u3067\u3042\u3063\u305f\u308a\u3059\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u306b\u95a2\u4fc2\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u8a73\u3057\u3044\u8aac\u660e\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\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<p>22q13\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u3060\u3051\u3067\u306f\u96e3\u3057\u304f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\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\u6700\u3082\u4e00\u822c\u7684\u306b\u884c\u308f\u308c\u3066\u3044\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304b:<\/strong> \u67d3\u8272\u4f53\u306e\u5168\u9818\u57df\u3092\u7d30\u304b\u304f\u30b9\u30ad\u30e3\u30f3\u3057\u3001\u9855\u5fae\u93e1\u3067\u306f\u898b\u3048\u306a\u3044\u30ec\u30d9\u30eb\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3084\u91cd\u8907\u3092\u691c\u51fa\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5206\u304b\u308b\u3053\u3068:<\/strong> 22\u756a\u67d3\u8272\u4f53\u306e\u3069\u306e\u4f4d\u7f6e\u304b\u3089\u3069\u306e\u4f4d\u7f6e\u307e\u3067\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\uff08\u6b20\u5931\u30b5\u30a4\u30ba\uff09\u304c\u6b63\u78ba\u306b\u5206\u304b\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FISH\u6cd5\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\u6cd5\uff09:<\/strong> \u7279\u5b9a\u306e\u9818\u57df\uff0822q13\uff09\u304c\u5149\u308b\u3088\u3046\u306b\u6a19\u8b58\u3092\u3064\u3051\u3066\u3001\u6b20\u5931\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u65b9\u6cd5\u3067\u3059\u3002\u8a3a\u65ad\u304c\u7591\u308f\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u78ba\u8a8d\u306e\u305f\u3081\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong> \u67d3\u8272\u4f53\u306e\u6b20\u5931\u3067\u306f\u306a\u304f\u3001SHANK3\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306b\u5c0f\u3055\u306a\u5909\u7570\uff08\u30b9\u30da\u30eb\u30df\u30b9\u306e\u3088\u3046\u306a\u3082\u306e\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u3053\u306e\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/1381925_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121568\"\/><\/figure><\/div>\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\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3057\u305f\u308a\u3001SHANK3\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3057\u305f\u308a\u3059\u308b\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002 \u3057\u304b\u3057\u3001<strong>\u300c\u4f55\u3082\u3059\u308b\u3053\u3068\u304c\u306a\u3044\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong> \u304a\u5b50\u69d8\u306e\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u5408\u4f75\u75c7\u3092\u4e88\u9632\u30fb\u7ba1\u7406\u3059\u308b\u305f\u3081\u306e\u69d8\u3005\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\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_%E7%99%82%E8%82%B2%E3%83%BB%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88%E6%97%A9%E6%9C%9F%E4%BB%8B%E5%85%A5%EF%BC%89\"><\/span><strong>\u2460 \u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u304f\u7642\u80b2\uff08\u767a\u9054\u652f\u63f4\uff09\u3092\u59cb\u3081\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u4f4e\u7dca\u5f35\u306b\u5bfe\u3057\u3066\u3001\u7b4b\u8089\u306e\u767a\u9054\u3092\u4fc3\u3057\u3001\u6b69\u884c\u3084\u59ff\u52e2\u4fdd\u6301\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u5fae\u7d30\u306a\u52d5\u304d\u306e\u7df4\u7fd2\u3084\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\uff08\u611f\u899a\u306e\u504f\u308a\u3092\u8abf\u6574\u3059\u308b\u904a\u3073\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u767a\u9054\u3092\u4fc3\u3059\u3060\u3051\u3067\u306a\u304f\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u304c\u6700\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>AAC\uff08\u62e1\u5927\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09:<\/strong> \u7d75\u30ab\u30fc\u30c9\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08VOCA\uff09\u306a\u3069\u3092\u4f7f\u3063\u3066\u3001\u300c\u4f1d\u3048\u308b\u697d\u3057\u3055\u300d\u3092\u80b2\u3066\u307e\u3059\u3002\u7406\u89e3\u529b\u304c\u9ad8\u3044\u304a\u5b50\u69d8\u304c\u591a\u3044\u305f\u3081\u3001\u3053\u3046\u3057\u305f\u30c4\u30fc\u30eb\u3092\u4f7f\u3046\u3053\u3068\u3067\u610f\u601d\u758e\u901a\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u306a\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E5%8C%BB%E7%99%82%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>\u2461 \u533b\u7642\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3067\u3001\u5408\u4f75\u75c7\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u5bfe\u51e6\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u5185\u79d1:<\/strong> \u3066\u3093\u304b\u3093\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u3001\u8133\u6ce2\u691c\u67fb\u306a\u3069\u3067\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u30fb\u6ccc\u5c3f\u5668\u79d1:<\/strong> \u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u814e\u81d3\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\u79d1:<\/strong> \u9006\u6d41\u6027\u98df\u9053\u708e\u3084\u3072\u3069\u3044\u4fbf\u79d8\u306b\u5bfe\u3057\u3066\u3001\u304a\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E6%B3%A8%E6%84%8F%E7%82%B9\"><\/span><strong>\u2462 \u65e5\u5e38\u751f\u6d3b\u3067\u306e\u6ce8\u610f\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e8b\u6545\u9632\u6b62:<\/strong> \u75db\u307f\u306b\u920d\u611f\u306a\u305f\u3081\u3001\u5927\u304d\u306a\u602a\u6211\u3092\u3057\u3066\u3044\u3066\u3082\u6c17\u3065\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306b\u4f53\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u7fd2\u6163\uff08\u304a\u98a8\u5442\u306e\u6642\u9593\u306a\u3069\uff09\u3092\u3064\u3051\u308b\u3068\u826f\u3044\u3067\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li><strong>\u4f53\u6e29\u8abf\u7bc0:<\/strong> \u6691\u3055\u306b\u5f31\u304b\u3063\u305f\u308a\u3001\u6c57\u3092\u304b\u304d\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u767a\u6c57\u969c\u5bb3\uff09\u3002\u590f\u5834\u306f\u3053\u307e\u3081\u306a\u6c34\u5206\u88dc\u7d66\u3084\u5ba4\u6e29\u7ba1\u7406\u306b\u6c17\u3092\u3064\u3051\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720:<\/strong> \u7761\u7720\u969c\u5bb3\uff08\u5bdd\u4ed8\u304d\u304c\u60aa\u3044\u3001\u591c\u4e2d\u306b\u8d77\u304d\u308b\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u751f\u6d3b\u30ea\u30ba\u30e0\u306e\u8abf\u6574\u3084\u3001\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u3066\u30e1\u30e9\u30c8\u30cb\u30f3\u306a\u3069\u306e\u7761\u7720\u5c0e\u5165\u5264\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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%E5%B1%95%E6%9C%9B%E3%81%A8%E7%A0%94%E7%A9%B6\"><\/span><strong>6. \u5c06\u6765\u306e\u5c55\u671b\u3068\u7814\u7a76<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u533b\u7642\u3068\u79d1\u5b66\u306f\u65e5\u3005\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002SHANK3\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u308b\u305f\u3081\u306e\u85ac\u5264\u3084\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u304c\u3001\u4e16\u754c\u4e2d\u3067\u6d3b\u767a\u306b\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e88\u5f8c:<\/strong> \u57fa\u672c\u7684\u306b\u306f\u9032\u884c\u6027\u306e\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff08\u9000\u884c\u306e\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u306f\u3086\u3063\u304f\u308a\u3068\u767a\u9054\u3092\u7d9a\u3051\u307e\u3059\uff09\u3002\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u6210\u4eba\u3057\u3001\u5bb6\u65cf\u3084\u652f\u63f4\u8005\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u306a\u304c\u3089\u3001\u5730\u57df\u793e\u4f1a\u3067\u751f\u6d3b\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bff\u547d:<\/strong> \u814e\u81d3\u3084\u5fc3\u81d3\u306a\u3069\u306e\u91cd\u7be4\u306a\u5185\u81d3\u5408\u4f75\u75c7\u304c\u306a\u3051\u308c\u3070\u3001\u5bff\u547d\u306f\u5065\u5e38\u306a\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>7. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u539f\u56e0:<\/strong> 22\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\uff08q13\uff09\u306e\u6b20\u5931\u306b\u3088\u308b\u3001SHANK3\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u4e3b\u306a\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u7279\u5fb4:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u91cd\u5ea6\u306e\u8a00\u8449\u306e\u9045\u308c\uff08\u305f\u3060\u3057\u7406\u89e3\u529b\u306f\u826f\u597d\u306a\u3053\u3068\u304c\u591a\u3044\uff09\u3001\u81ea\u9589\u50be\u5411\u3001\u75db\u307f\u3078\u306e\u920d\u611f\u3055\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642:<\/strong> \u6839\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001PT\u30fbOT\u30fbST\u306a\u3069\u306e\u7642\u80b2\u3084\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u306b\u3088\u3063\u3066\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5927\u304d\u304f\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3:<\/strong> \u8a00\u8449\u304c\u51fa\u306b\u304f\u304f\u3066\u3082\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u306a\u3069\u3067\u610f\u601d\u758e\u901a\u304c\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%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>8. \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>\u300c22q13\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u4eca\u3001\u8a00\u8449\u306b\u3067\u304d\u306a\u3044\u307b\u3069\u306e\u30b7\u30e7\u30c3\u30af\u3084\u5b64\u72ec\u611f\u3092\u611f\u3058\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3001\u5c06\u6765\u306e\u4e0d\u5b89\u3070\u304b\u308a\u304c\u52df\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3069\u3046\u304b\u3053\u308c\u3060\u3051\u306f\u77e5\u3063\u3066\u3044\u3066\u304f\u3060\u3055\u3044\u3002<strong>\u3042\u306a\u305f\u306e\u304a\u5b50\u69d8\u306f\u3001\u75c5\u540d\u3084\u8a3a\u65ad\u540d\u3060\u3051\u3067\u5b9a\u7fa9\u3055\u308c\u308b\u5b58\u5728\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3092\u6301\u3064\u591a\u304f\u306e\u5148\u8f29\u3054\u5bb6\u65cf\u306f\u3001\u5f7c\u3089\u306e\u3053\u3068\u3092\u3053\u3046\u8868\u73fe\u3057\u307e\u3059\u3002 \u300c\u3044\u3064\u3082\u30cb\u30b3\u30cb\u30b3\u3057\u3066\u3044\u3066\u3001\u611b\u5b0c\u304c\u3042\u308b\u300d \u300c\u4eba\u3092\u5e78\u305b\u306b\u3059\u308b\u4e0d\u601d\u8b70\u306a\u9b45\u529b\u3092\u6301\u3063\u3066\u3044\u308b\u300d \u300c\u8a00\u8449\u306f\u306a\u304f\u3066\u3082\u3001\u76ee\u3084\u8868\u60c5\u3067\u7cbe\u4e00\u676f\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3066\u304f\u308c\u308b\u300d \u300c\u3086\u3063\u304f\u308a\u3060\u3051\u3069\u3001\u6628\u65e5\u306f\u3067\u304d\u306a\u304b\u3063\u305f\u3053\u3068\u304c\u4eca\u65e5\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u6642\u306e\u559c\u3073\u306f\u3001\u4f55\u500d\u3082\u5927\u304d\u3044\u300d<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u300c\u30ec\u30c3\u30c6\u30eb\u300d\u3067\u306f\u306a\u304f\u3001\u304a\u5b50\u69d8\u3092\u3088\u308a\u6df1\u304f\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u3059\u308b\u305f\u3081\u306e\u300c\u5730\u56f3\u300d\u3067\u3059\u3002\u75db\u307f\u306b\u6c17\u3065\u304d\u306b\u304f\u3044\u3053\u3068\u3001\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u7406\u7531\u3001\u305d\u308c\u3089\u304c\u5206\u304b\u308b\u3053\u3068\u3067\u3001\u3057\u3066\u3042\u3052\u3089\u308c\u308b\u3053\u3068\u304c\u305f\u304f\u3055\u3093\u898b\u3048\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u306b\u540c\u3058\u5883\u9047\u306e\u5bb6\u65cf\u304c\u3044\u307e\u3059\u3002\u65e5\u672c\u306b\u3082\u5bb6\u65cf\u4f1a\u3084\u60a3\u8005\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u5b58\u5728\u3057\u3001\u60c5\u5831\u4ea4\u63db\u3084\u652f\u3048\u5408\u3044\u304c\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Phelan-McDermid Syndrome Foundation\uff08PMSF\uff09:<\/strong> \u4e16\u754c\u7684\u306a\u60a3\u8005\u56e3\u4f53\u3067\u3001\u6700\u65b0\u306e\u7814\u7a76\u60c5\u5831\u306a\u3069\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u306e\u5bb6\u65cf\u4f1a:<\/strong> \u56fd\u5185\u3067\u3082SNS\u306a\u3069\u3092\u901a\u3058\u3066\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u5bb6\u65cf\u306e\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7126\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u5b50\u69d8\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u3066\u3001\u4e00\u65e5\u4e00\u65e5\u3092\u5927\u5207\u306b\u904e\u3054\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u533b\u7642\u30c1\u30fc\u30e0\u3084\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u4ef2\u9593\u305f\u3061\u304c\u3001\u3042\u306a\u305f\u3068\u304a\u5b50\u69d8\u306e\u4f34\u8d70\u8005\u3068\u306a\u308a\u307e\u3059\u3002\u304a\u5b50\u69d8\u306e\u7b11\u9854\u304c\u3001\u3053\u308c\u304b\u3089\u306e\u672a\u6765\u3092\u660e\u308b\u304f\u7167\u3089\u3057\u3066\u304f\u308c\u308b\u3053\u3068\u3092\u4fe1\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u306f\u3058\u3081\u306b 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":88,"featured_media":121716,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121751","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\/121751","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=121751"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121751\/revisions"}],"predecessor-version":[{"id":121754,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121751\/revisions\/121754"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121716"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121751"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121751"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121751"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}