{"id":122518,"date":"2026-01-14T09:52:55","date_gmt":"2026-01-14T00:52:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122518"},"modified":"2026-03-27T14:40:05","modified_gmt":"2026-03-27T05:40:05","slug":"autosomal-dominant-mental-retardation-15-dyrk1a","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/","title":{"rendered":"Autosomal Dominant Mental Retardation 15"},"content":{"rendered":"\n<p>Autosomal Dominant Mental Retardation 15 (ADMR15)\u306f\u300121\u756a\u67d3\u8272\u4f53\u306b\u4f4d\u7f6e\u3059\u308bDYRK1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<p>DYRK1A\u907a\u4f1d\u5b50\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\uff0821\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u306b\u304a\u3044\u3066\u300c\u904e\u5270\u306b\u5b58\u5728\u3059\u308b\u3053\u3068\u300d\u3067\u77e5\u80fd\u969c\u5bb3\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001ADMR15\u306f\u305d\u306e\u9006\u3067\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u300c\u8db3\u308a\u306a\u3044\u3053\u3068\u300d\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u8fd1\u5e74\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306b\u3088\u308b\u8a3a\u65ad\u304c\u9032\u307f\u3001\u305d\u306e\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u767a\u9054\u30d1\u30bf\u30fc\u30f3\u304b\u3089\u3001\u72ec\u7acb\u3057\u305f\u75be\u60a3\u5358\u4f4d\u3068\u3057\u3066\u306e\u7406\u89e3\u304c\u6025\u901f\u306b\u6df1\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u53f8\u4ee4\u5854\u306e\u5f79\u5272\u3092\u679c\u305f\u3059DYRK1A\u306e\u6a5f\u80fd\u3068\u3001ADMR15\u306e\u81e8\u5e8a\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#1_%E9%81%BA%E4%BC%9D%E7%9A%84%E5%8E%9F%E5%9B%A0%E3%81%A8%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%EF%BC%9ADYRK1A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E8%84%B3%E3%81%AE%E6%A7%8B%E7%AF%89\" >1. \u907a\u4f1d\u7684\u539f\u56e0\u3068\u5206\u5b50\u75c5\u614b\uff1aDYRK1A\u907a\u4f1d\u5b50\u3068\u8133\u306e\u69cb\u7bc9<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#DYRK1A%EF%BC%88Dual-specificity_Tyrosine-phosphorylation-regulated_Kinase_1A%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\" >DYRK1A\uff08Dual-specificity Tyrosine-phosphorylation-regulated Kinase 1A\uff09\u306e\u5f79\u5272<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9AADMR15%E3%82%92%E5%AE%9A%E7%BE%A9%E3%81%99%E3%82%8B%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1aADMR15\u3092\u5b9a\u7fa9\u3059\u308b\u4e3b\u8981\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-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E2%91%A0_%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E5%B0%8F%E9%A0%AD%E7%97%87%EF%BC%88Microcephaly%EF%BC%89\" >\u2460 \u9032\u884c\u6027\u306e\u5c0f\u982d\u75c7\uff08Microcephaly\uff09<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Gestalt%EF%BC%89\" >\u2461 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Gestalt\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E2%91%A2_%E9%87%8D%E5%BA%A6%E3%81%AE%E7%99%BA%E9%81%94%E9%81%85%E5%BB%B6%E3%81%A8%E8%A8%80%E8%AA%9E%E9%9A%9C%E5%AE%B3\" >\u2462 \u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3068\u8a00\u8a9e\u969c\u5bb3<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E2%91%A3_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E8%A1%8C%E5%8B%95%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u2463 \u3066\u3093\u304b\u3093\u3068\u884c\u52d5\u306e\u7279\u5fb4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >3. \u8a3a\u65ad\u3068\u9451\u5225\uff1a\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u91cd\u8981\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\" >\u78ba\u5b9a\u8a3a\u65ad\u3078\u306e\u30b9\u30c6\u30c3\u30d7<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E7%96%BE%E6%82%A3\" >\u9451\u5225\u3059\u3079\u304d\u75be\u60a3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#4_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9A%E5%80%8B%E5%88%A5%E3%81%AE%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\" >4. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1a\u500b\u5225\u306e\u767a\u9054\u652f\u63f4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E8%A8%80%E8%AA%9E%E3%81%A8%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%AE%E6%94%AF%E6%8F%B4\" >\u8a00\u8a9e\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%AE%A1%E7%90%86\" >\u795e\u7d4c\u5b66\u7684\u7ba1\u7406<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%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\" >\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%81%AE%E7%A0%94%E7%A9%B6%E5%B1%95%E6%9C%9B\" >5. \u4e88\u5f8c\u3068\u6b21\u4e16\u4ee3\u306e\u7814\u7a76\u5c55\u671b<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E3%83%A9%E3%82%A4%E3%83%95%E3%82%B9%E3%83%86%E3%83%BC%E3%82%B8%E3%81%AE%E5%B1%95%E6%9C%9B\" >\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306e\u5c55\u671b<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E6%B2%BB%E7%99%82%E8%96%AC%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\" >\u6cbb\u7642\u85ac\u7814\u7a76\u306e\u6700\u524d\u7dda<\/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\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%BA%E4%BC%9D%E7%9A%84%E5%8E%9F%E5%9B%A0%E3%81%A8%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%EF%BC%9ADYRK1A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E8%84%B3%E3%81%AE%E6%A7%8B%E7%AF%89\"><\/span><strong>1. \u907a\u4f1d\u7684\u539f\u56e0\u3068\u5206\u5b50\u75c5\u614b\uff1aDYRK1A\u907a\u4f1d\u5b50\u3068\u8133\u306e\u69cb\u7bc9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ADMR15\u306e\u6839\u672c\u539f\u56e0\u306f\u300121\u756a\u67d3\u8272\u4f53\uff0821q22.13\uff09\u4e0a\u306e<strong>DYRK1A\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u3001\u307e\u305f\u306f\u540c\u9818\u57df\u3092\u542b\u3080\u5fae\u7d30\u6b20\u5931\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DYRK1A%EF%BC%88Dual-specificity_Tyrosine-phosphorylation-regulated_Kinase_1A%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>DYRK1A\uff08Dual-specificity Tyrosine-phosphorylation-regulated Kinase 1A\uff09\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DYRK1A\u306f\u3001\u795e\u7d4c\u7d30\u80de\u306e\u5897\u6b96\u3001\u5206\u5316\u3001\u305d\u3057\u3066\u30b7\u30ca\u30d7\u30b9\u306e\u5f62\u6210\u3092\u5236\u5fa1\u3059\u308b\u91cd\u8981\u306a\u9175\u7d20\uff08\u30ad\u30ca\u30fc\u30bc\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u65b0\u751f\u306e\u5236\u5fa1:<\/strong> \u8133\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u304f\u5206\u88c2\u3057\u3001\u9069\u5207\u306a\u5834\u6240\u306b\u914d\u7f6e\u3055\u308c\u308b\u306e\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09:<\/strong> DYRK1A\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u304c\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u4e0d\u8db3\u3057\u3001\u8133\u306e\u7dcf\u4f53\u7684\u306a\u30dc\u30ea\u30e5\u30fc\u30e0\u304c\u6e1b\u5c11\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u300c\u5c0f\u982d\u75c7\u300d\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u3068\u306e\u30b3\u30f3\u30c8\u30e9\u30b9\u30c8:<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u3067\u306fDYRK1A\u304c1.5\u500d\uff083\u672c\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u8133\u306e\u767a\u9054\u3092\u963b\u5bb3\u3057\u307e\u3059\u304c\u3001ADMR15\u3067\u306f0.5\u500d\uff081\u672c\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u91cd\u7be4\u306a\u5c0f\u982d\u75c7\u3084\u767a\u9054\u9045\u5ef6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9AADMR15%E3%82%92%E5%AE%9A%E7%BE%A9%E3%81%99%E3%82%8B%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1aADMR15\u3092\u5b9a\u7fa9\u3059\u308b\u4e3b\u8981\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ADMR15\uff08DYRK1A\u95a2\u9023\u75c7\u5019\u7fa4\uff09\u306b\u306f\u3001\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u5fb4\u5019\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E5%B0%8F%E9%A0%AD%E7%97%87%EF%BC%88Microcephaly%EF%BC%89\"><\/span><strong>\u2460 \u9032\u884c\u6027\u306e\u5c0f\u982d\u75c7\uff08Microcephaly\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u6642\u306b\u306f\u76ee\u7acb\u305f\u306a\u304f\u3066\u3082\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u982d\u56f2\u306e\u62e1\u5927\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u3001\u5c0f\u982d\u75c7\u304c\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u8133\u306e\u795e\u7d4c\u7d30\u80de\u6570\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u3044\u3053\u3068\u3092\u53cd\u6620\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\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%88Facial_Gestalt%EF%BC%89\"><\/span><strong>\u2461 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Gestalt\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c02\u9580\u5bb6\u304c\u898b\u308c\u3070\u4e00\u76ee\u3067\u7591\u3046\u307b\u3069\u3001\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6df1\u3044\u773c\u7aa9:<\/strong> \u76ee\u304c\u5965\u306b\u5f15\u3063\u8fbc\u3093\u3067\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u304d\u306a\u8033:<\/strong> \u9854\u306e\u30d0\u30e9\u30f3\u30b9\u306b\u5bfe\u3057\u3066\u8033\u304c\u5927\u304d\u304f\u3001\u4f4d\u7f6e\u304c\u4f4e\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c16\u3063\u305f\u984e:<\/strong> \u984e\u304c\u5c0f\u3055\u304f\u3001\u5c16\u3063\u305f\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u9f3b\u6839\u90e8\u3068\u77ed\u3044\u4eba\u4e2d:<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e83\u304f\u3001\u9f3b\u3068\u53e3\u306e\u8ddd\u96e2\uff08\u4eba\u4e2d\uff09\u304c\u77ed\u3044\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=\"%E2%91%A2_%E9%87%8D%E5%BA%A6%E3%81%AE%E7%99%BA%E9%81%94%E9%81%85%E5%BB%B6%E3%81%A8%E8%A8%80%E8%AA%9E%E9%9A%9C%E5%AE%B3\"><\/span><strong>\u2462 \u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3068\u8a00\u8a9e\u969c\u5bb3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u6b20\u5982:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u69d8\u3067\u3001\u521d\u8a9e\u304c\u8457\u3057\u304f\u9045\u308c\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u6709\u610f\u8a9e\u3092\u6301\u305f\u306a\u3044\uff08\u975e\u8a00\u8a9e\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u4e2d\u5fc3\u3068\u306a\u308b\uff09\u30b1\u30fc\u30b9\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054:<\/strong> \u6b69\u884c\u958b\u59cb\u306e\u9045\u308c\u3084\u3001\u72ec\u7279\u306e\u6b69\u884c\u69d8\u5f0f\uff08\u4e0d\u5b89\u5b9a\u3067\u304e\u3053\u3061\u306a\u3044\u6b69\u304d\u65b9\uff09\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E8%A1%8C%E5%8B%95%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2463 \u3066\u3093\u304b\u3093\u3068\u884c\u52d5\u306e\u7279\u5fb4<\/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\u767a\u4f5c:<\/strong> \u7d04\u534a\u6570\u4ee5\u4e0a\u306e\u75c7\u4f8b\u3067\u3001\u5e7c\u5150\u671f\u304b\u3089\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08\u6b20\u795e\u767a\u4f5c\u3084\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u975e\u5e38\u306b\u793e\u4ea4\u7684\u3067\u660e\u308b\u3044\u6027\u683c\u306e\u4e00\u65b9\u3067\u3001\u3053\u3060\u308f\u308a\u3084\u904e\u6d3b\u52d5\u3068\u3044\u3063\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u69d8\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\uff1a\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ADMR15\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u4ed6\u306e\u5c0f\u982d\u75c7\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u3068\u533a\u5225\u3059\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad\u3078\u306e\u30b9\u30c6\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb:<\/strong> 21\u756a\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a8\u30ad\u30bd\u30fc\u30e0\u89e3\u6790 (WES):<\/strong> \u907a\u4f1d\u5b50\u306e\u5fae\u7d30\u306a\u70b9\u5909\u7570\uff08\u6587\u5b57\u306e\u66f8\u304d\u63db\u3048\uff09\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E7%96%BE%E6%82%A3\"><\/span><strong>\u9451\u5225\u3059\u3079\u304d\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Angelman\uff08\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\uff09\u75c7\u5019\u7fa4:<\/strong> \u7b11\u9854\u304c\u591a\u304f\u3001\u767a\u9054\u9045\u5ef6\u3084\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u70b9\u304c\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u907a\u4f1d\u7684\u539f\u56e0\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Pitt-Hopkins\uff08\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\uff09\u75c7\u5019\u7fa4:<\/strong> \u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3068\u7279\u5fb4\u7684\u9854\u8c8c\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u547c\u5438\u7570\u5e38\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9A%E5%80%8B%E5%88%A5%E3%81%AE%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\"><\/span><strong>4. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1a\u500b\u5225\u306e\u767a\u9054\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u306fDYRK1A\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u6b63\u5e38\u5316\u3059\u308b\u6839\u672c\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u65e9\u671f\u306e\u96c6\u5b66\u7684\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%80%E8%AA%9E%E3%81%A8%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%AE%E6%94%AF%E6%8F%B4\"><\/span><strong>\u8a00\u8a9e\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3:<\/strong> \u767a\u8a71\u304c\u56f0\u96e3\u306a\u5834\u5408\u3001PECS\uff08\u7d75\u30ab\u30fc\u30c9\u4ea4\u63db\u5f0f\uff09\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u7528\u3044\u305f\u8996\u899a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u8a13\u7df4:<\/strong> \u56a5\u4e0b\u6a5f\u80fd\u306e\u5f31\u3055\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u8a00\u8a9e\u8074\u899a\u58eb\uff08ST\uff09\u306b\u3088\u308b\u6307\u5c0e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac:<\/strong> \u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u305f\u9069\u5207\u306a\u85ac\u5264\u306e\u9078\u629e\u3068\u3001\u5b9a\u671f\u7684\u306a\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u7ba1\u7406:<\/strong> \u5165\u7720\u56f0\u96e3\u3084\u4e2d\u9014\u899a\u9192\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u74b0\u5883\u8abf\u6574\u3084\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u6295\u85ac\u691c\u8a0e\u304c\u306a\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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\"><\/span><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5 (PT):<\/strong> \u4f53\u5e79\u306e\u5f31\u3055\u3084\u6b69\u884c\u306e\u4e0d\u5b89\u5b9a\u3055\u306b\u5bfe\u3059\u308b\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5 (OT):<\/strong> \u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3084\u611f\u899a\u904e\u654f\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\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\/2025\/09\/32537667_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-116895\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%81%AE%E7%A0%94%E7%A9%B6%E5%B1%95%E6%9C%9B\"><\/span><strong>5. \u4e88\u5f8c\u3068\u6b21\u4e16\u4ee3\u306e\u7814\u7a76\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ADMR15\u306e\u7814\u7a76\u306f\u4e16\u754c\u4e2d\u3067\u9032\u3093\u3067\u304a\u308a\u3001\u65b0\u305f\u306a\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u304c\u6a21\u7d22\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%A9%E3%82%A4%E3%83%95%E3%82%B9%E3%83%86%E3%83%BC%E3%82%B8%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u69d8\u306f\u3001\u751f\u6daf\u306b\u308f\u305f\u308a\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u652f\u63f4\u304c\u3042\u308c\u3070\u5bb6\u5ead\u3084\u798f\u7949\u65bd\u8a2d\u3067\u7a4f\u3084\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u80fd\u529b\u306f\u3001\u6642\u9593\u306f\u304b\u304b\u3063\u3066\u3082\u7372\u5f97\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E8%96%AC%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\"><\/span><strong>\u6cbb\u7642\u85ac\u7814\u7a76\u306e\u6700\u524d\u7dda<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DYRK1A\u306e\u30ad\u30ca\u30fc\u30bc\u6d3b\u6027\u3092\u8abf\u6574\u3059\u308b\u4f4e\u5206\u5b50\u5316\u5408\u7269\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u73fe\u5728\u306f\u4e3b\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\uff08\u6d3b\u6027\u904e\u5270\uff09\u3078\u306e\u6291\u5236\u5264\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u5c06\u6765\u7684\u306b\u306fADMR15\u306e\u3088\u3046\u306a\u6b20\u5931\u75c7\u4f8b\u306b\u5bfe\u3057\u3001\u6b8b\u3055\u308c\u305f\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u5f37\u3081\u308b\u3001\u3042\u308b\u3044\u306f\u4ee3\u66ff\u7d4c\u8def\u3092\u6d3b\u6027\u5316\u3059\u308b\u3088\u3046\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span><strong>\u7d50\u8ad6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Autosomal Dominant Mental Retardation 15\uff08ADMR15\/DYRK1A\u95a2\u9023\u75c7\u5019\u7fa4\uff09\u306f\u3001\u8133\u306e\u767a\u9054\u3092\u53f8\u308b\u91cd\u8981\u306a\u30b9\u30a4\u30c3\u30c1\u3067\u3042\u308bDYRK1A\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u8a00\u8a9e\u969c\u5bb3\u3084\u5c0f\u982d\u75c7\u3068\u3044\u3063\u305f\u8ab2\u984c\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u65b9\u3067\u3001AKS\u306e\u5b50\u4f9b\u305f\u3061\u306f\u975e\u5e38\u306b\u8868\u60c5\u8c4a\u304b\u3067\u3001\u5468\u56f2\u3068\u306e\u7e4b\u304c\u308a\u3092\u6c42\u3081\u308b\u660e\u308b\u3044\u6027\u683c\u3092\u6301\u3064\u3053\u3068\u304c\u591a\u3044\u3068\u8a00\u308f\u308c\u307e\u3059\u3002\u907a\u4f1d\u5b50\u8a3a\u65ad\u3068\u3044\u3046\u300c\u540d\u524d\u300d\u304c\u3064\u304f\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u6700\u9069\u306a\u6559\u80b2\u74b0\u5883\u3084\u533b\u7642\u7684\u30b1\u30a2\u3092\u9078\u629e\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u8005\u3001\u6559\u80b2\u8005\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u6210\u9577\u306e\u7269\u8a9e\u3092\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u4f55\u3088\u308a\u3082\u5927\u5207\u306a\u652f\u63f4\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n","protected":false},"excerpt":{"rendered":"Autosomal Dominant M&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116722,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122518","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\/122518","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122518"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122518\/revisions"}],"predecessor-version":[{"id":126196,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122518\/revisions\/126196"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116722"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122518"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122518"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122518"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}