{"id":122512,"date":"2026-01-14T09:49:31","date_gmt":"2026-01-14T00:49:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122512"},"modified":"2026-07-24T05:19:31","modified_gmt":"2026-07-23T20:19:31","slug":"autosomal-dominant-mental-retardation-14-magel2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/","title":{"rendered":"ADMR14\uff08MAGEL2\u907a\u4f1d\u5b50\uff09\u3068\u306f\uff5cSchaaf-Yang\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3068\u8a3a\u65ad"},"content":{"rendered":"\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u300cAutosomal Dominant Mental Retardation 14\u300d\u306f\u300115\u756a\u67d3\u8272\u4f53\uff0815q11.2\uff09\u306b\u3042\u308bMAGEL2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u8d77\u3053\u308b\u795e\u7d4c\u767a\u9054\u75c7\u3067\u3001\u8fd1\u5e74\u306f\u767a\u898b\u8005\u306e\u540d\u3092\u51a0\u3057\u3066\u300cSchaaf-Yang\u75c7\u5019\u7fa4\uff08\u30b7\u30e3\u30fc\u30d5\u30fb\u30e4\u30f3\u30b0\u75c7\u5019\u7fa4\u3001SYS\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/strong>\u65e5\u672c\u3067\u30822025\u5e744\u6708\u66f4\u65b0\u306e\u8a3a\u65ad\u306e\u624b\u5f15\u304d\u3067\u300c\u30b7\u30e3\u30fc\u30d5\u30fb\u30e4\u30f3\u30b0\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\uff08\u544a\u793a\u756a\u53f721\uff09\u306b\u767b\u9332\u3055\u308c\u3066\u3044\u308b\u3001\u3054\u304f\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3068\u4f3c\u3066\u3044\u308b\u3068\u8a00\u308f\u308c\u305f\u3051\u308c\u3069\u4f55\u304c\u9055\u3046\u306e\u304b\u300d\u300cMAGEL2\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306f\u3069\u3093\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u308b\u306e\u304b\u300d\u306a\u3069\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u540d\u79f0\u306b\u6238\u60d1\u3046\u65b9\u3082\u591a\u3044\u306f\u305a\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u540d\u79f0\u306e\u6574\u7406\u304b\u3089\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4ed5\u7d44\u307f\u3001\u75c7\u72b6\u3001\u9451\u5225\u8a3a\u65ad\u3001NIPT\u3068\u306e\u95a2\u4fc2\u3001\u6cbb\u7642\u30fb\u652f\u63f4\u4f53\u5236\u3001\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u307e\u3067\u3092\u3001GeneReviews\u30fbGARD\uff08\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 \u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>ADMR14\uff08Schaaf-Yang\u75c7\u5019\u7fa4\uff09\u306e\u6b63\u5f0f\u540d\u79f0\u3068\u3001\u56fd\u5185\u3067\u306e\u75be\u75c5\u767b\u9332\u306e\u72b6\u6cc1<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50MAGEL2\u306e\u50cd\u304d\u3068\u3001\u30b2\u30ce\u30e0\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u3068\u3044\u3046\u4ed5\u7d44\u307f<\/li>\n<li>\u75c7\u72b6\u306e\u7279\u5fb4\uff08\u767a\u9054\u30fb\u7b4b\u7dca\u5f35\u30fb\u95a2\u7bc0\u62d8\u7e2e\u30fb\u547c\u5438\u306a\u3069\uff09\u3092\u983b\u5ea6\u30c7\u30fc\u30bf\u3067\u89e3\u8aac<\/li>\n<li>\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\u3068\u3001\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u30dd\u30a4\u30f3\u30c8<\/li>\n<li>\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u3068MAGEL2\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>NIPT\u3067\u308f\u304b\u308b\u7bc4\u56f2\u3068\u308f\u304b\u3089\u306a\u3044\u7bc4\u56f2\u3001\u6cbb\u7642\u30fb\u652f\u63f4\u30fb\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6<\/li>\n<\/ul>\n<\/div>\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\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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-14-magel2\/#1_ADMR14%EF%BC%88Schaaf-Yang%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF%EF%BC%9F%E5%90%8D%E7%A7%B0%E3%81%AE%E6%95%B4%E7%90%86%E3%81%A8%E6%82%A3%E8%80%85%E6%95%B0\" >1. ADMR14\uff08Schaaf-Yang\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff1f\u540d\u79f0\u306e\u6574\u7406\u3068\u60a3\u8005\u6570<\/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\/autosomal-dominant-mental-retardation-14-magel2\/#2_%E5%8E%9F%E5%9B%A0%EF%BD%9CMAGEL2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B2%E3%83%8E%E3%83%A0%E3%82%A4%E3%83%B3%E3%83%97%E3%83%AA%E3%83%B3%E3%83%86%E3%82%A3%E3%83%B3%E3%82%B0%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\" >2. \u539f\u56e0\uff5cMAGEL2\u907a\u4f1d\u5b50\u3068\u30b2\u30ce\u30e0\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u306e\u4ed5\u7d44\u307f<\/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\/autosomal-dominant-mental-retardation-14-magel2\/#MAGEL2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%83%8D%E3%81%8D%E3%81%A8%E7%88%B6%E6%80%A7%E7%99%BA%E7%8F%BE%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4\" >MAGEL2\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3068\u7236\u6027\u767a\u73fe\u3068\u3044\u3046\u7279\u5fb4<\/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\/autosomal-dominant-mental-retardation-14-magel2\/#%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88PWS%EF%BC%89%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08PWS\uff09\u3068\u306e\u9055\u3044<\/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\/autosomal-dominant-mental-retardation-14-magel2\/#3_%E7%97%87%E7%8A%B6%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BD%9C%E9%A0%BB%E5%BA%A6%E3%83%87%E3%83%BC%E3%82%BF%E3%81%A7%E8%A6%8B%E3%82%8B%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >3. \u75c7\u72b6\u306e\u7279\u5fb4\uff5c\u983b\u5ea6\u30c7\u30fc\u30bf\u3067\u898b\u308b\u4e3b\u306a\u75c7\u72b6<\/a><\/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\/autosomal-dominant-mental-retardation-14-magel2\/#4_%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E7%96%BE%E6%82%A3%EF%BD%9C%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AA%E3%81%A9%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >4. \u9451\u5225\u3059\u3079\u304d\u75be\u60a3\uff5c\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u306a\u3069\u3068\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#5_%E8%A8%BA%E6%96%AD%E6%96%B9%E6%B3%95%EF%BD%9C%E3%83%A1%E3%83%81%E3%83%AB%E5%8C%96%E6%A4%9C%E6%9F%BB%E3%81%A8MAGEL2%E9%81%BA%E4%BC%9D%E5%AD%90%E8%A7%A3%E6%9E%90\" >5. \u8a3a\u65ad\u65b9\u6cd5\uff5c\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u3068MAGEL2\u907a\u4f1d\u5b50\u89e3\u6790<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#%E8%A8%BA%E6%96%AD%E3%81%AE%E6%A8%99%E6%BA%96%E7%9A%84%E3%81%AA%E6%B5%81%E3%82%8C\" >\u8a3a\u65ad\u306e\u6a19\u6e96\u7684\u306a\u6d41\u308c<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#6_NIPT%E3%81%A7ADMR14%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B\" >6. NIPT\u3067ADMR14\u306f\u308f\u304b\u308a\u307e\u3059\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#7_%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%BD%9C%E5%A4%9A%E8%A7%92%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E4%BD%93%E5%88%B6\" >7. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff5c\u591a\u89d2\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%80%9C%E4%B9%B3%E5%85%90%E6%9C%9F%E3%81%AE%E3%82%B1%E3%82%A2\" >\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306e\u30b1\u30a2<\/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\/autosomal-dominant-mental-retardation-14-magel2\/#%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E9%AA%A8%E6%A0%BC%E3%83%BB%E5%86%85%E5%88%86%E6%B3%8C%E3%81%AE%E7%AE%A1%E7%90%86\" >\u767a\u9054\u652f\u63f4\u3068\u9aa8\u683c\u30fb\u5185\u5206\u6ccc\u306e\u7ba1\u7406<\/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\/autosomal-dominant-mental-retardation-14-magel2\/#8_%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%A8%E5%86%8D%E7%99%BA%E3%83%AA%E3%82%B9%E3%82%AF\" >8. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u518d\u767a\u30ea\u30b9\u30af<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#9_%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6%E3%83%BB%E5%AE%B6%E6%97%8F%E6%94%AF%E6%8F%B4\" >9. \u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u30fb\u5bb6\u65cf\u652f\u63f4<\/a><\/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-14-magel2\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#ADMR14%E3%81%A8Schaaf-Yang%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >ADMR14\u3068Schaaf-Yang\u75c7\u5019\u7fa4\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#ADMR14%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >ADMR14\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3068\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-14-magel2\/#%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u533b\u7642\u8cbb\u306e\u52a9\u6210\u5236\u5ea6\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_ADMR14%EF%BC%88Schaaf-Yang%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF%EF%BC%9F%E5%90%8D%E7%A7%B0%E3%81%AE%E6%95%B4%E7%90%86%E3%81%A8%E6%82%A3%E8%80%85%E6%95%B0\"><\/span><strong>1. ADMR14\uff08Schaaf-Yang\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff1f\u540d\u79f0\u306e\u6574\u7406\u3068\u60a3\u8005\u6570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u300115\u756a\u67d3\u8272\u4f53\u306e15q11.2\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bMAGEL2\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/strong>\u300cAutosomal Dominant Mental Retardation 14\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>14\u578b\uff09\u300d\u3068\u3044\u3046\u901a\u3057\u756a\u53f7\u306b\u3088\u308b\u540d\u79f0\u306e\u307b\u304b\u30012013\u5e74\u306b\u5831\u544a\u3057\u305f\u7814\u7a76\u8005\u306e\u540d\u524d\u306b\u3061\u306a\u3093\u3060\u300cSchaaf-Yang\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u547c\u3073\u65b9\u304c\u3001\u73fe\u5728\u306f\u56fd\u969b\u7684\u306b\u3082\u5e83\u304f\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u56fd\u5185\u3067\u306f\u3001<a href=\"https:\/\/www.shouman.jp\/disease\/html\/sindan\/13_37.html\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u306e\u8a3a\u65ad\u306e\u624b\u5f15\u304d\uff08\u7b2c1\u7248\u30fb2025\u5e744\u67081\u65e5\u66f4\u65b0\uff09\u306b\u300c\u30b7\u30e3\u30fc\u30d5\u30fb\u30e4\u30f3\u30b0\uff08Schaaf-Yang\uff09\u75c7\u5019\u7fa4\u300d\u306e\u540d\u79f0\u3067\u767b\u9332\u3055\u308c\u3066\u304a\u308a\u3001\u544a\u793a\u756a\u53f721\u30fb\u75be\u60a3\u7fa4\u300c\u67d3\u8272\u4f53\u53c8\u306f\u907a\u4f1d\u5b50\u306b\u5909\u5316\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u300d\u306b\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u300218\u6b73\u672a\u6e80\uff08\u5f15\u304d\u7d9a\u304d\u6cbb\u7642\u304c\u5fc5\u8981\u306a\u5834\u5408\u306f20\u6b73\u672a\u6e80\u307e\u3067\uff09\u3092\u5bfe\u8c61\u306b\u3001\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u5f97\u308b\u75be\u60a3\u3068\u3057\u3066\u56fd\u304c\u628a\u63e1\u3057\u3066\u3044\u308b\u75c5\u6c17\u3060\u3068\u3044\u3046\u70b9\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u4e00\u3064\u306e\u5b89\u5fc3\u6750\u6599\u306b\u306a\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304d\u308f\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u307e\u3060\u5b9a\u307e\u3063\u3066\u3044\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK567492\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\u306b\u3088\u308b\u3068\u3001\u3053\u308c\u307e\u3067\u306b\u4e16\u754c\u3067250\u4f8b\u3092\u8d85\u3048\u308b\u5831\u544a\u304c\u96c6\u7a4d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u898b\u51fa\u3057\u304b\u3089\u3001\u306a\u305c\u3053\u306e\u75c5\u6c17\u304c\u8d77\u3053\u308b\u306e\u304b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4ed5\u7d44\u307f\u3092\u9806\u756a\u306b\u6574\u7406\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%8E%9F%E5%9B%A0%EF%BD%9CMAGEL2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B2%E3%83%8E%E3%83%A0%E3%82%A4%E3%83%B3%E3%83%97%E3%83%AA%E3%83%B3%E3%83%86%E3%82%A3%E3%83%B3%E3%82%B0%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span><strong>2. \u539f\u56e0\uff5cMAGEL2\u907a\u4f1d\u5b50\u3068\u30b2\u30ce\u30e0\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u306e\u4ed5\u7d44\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>ADMR14\u306f\u3001\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u306a\u3069\u306b\u95a2\u308f\u308bMAGEL2\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u3001\u300c\u30b2\u30ce\u30e0\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\uff08\u907a\u4f1d\u5b50\u5237\u308a\u8fbc\u307f\uff09\u300d\u3068\u3044\u3046\u7279\u6b8a\u306a\u4ed5\u7d44\u307f\u304c\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u3053\u306e\u4ed5\u7d44\u307f\u3092\u7406\u89e3\u3059\u308b\u3068\u3001\u306a\u305c\u540c\u3058\u5909\u7570\u3067\u3082\u767a\u75c7\u3059\u308b\u5834\u5408\u3068\u3057\u306a\u3044\u5834\u5408\u304c\u3042\u308b\u306e\u304b\u304c\u898b\u3048\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MAGEL2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%83%8D%E3%81%8D%E3%81%A8%E7%88%B6%E6%80%A7%E7%99%BA%E7%8F%BE%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4\"><\/span><strong>MAGEL2\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3068\u7236\u6027\u767a\u73fe\u3068\u3044\u3046\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>15\u756a\u67d3\u8272\u4f53\uff0815q11.2\uff09\u306b\u4f4d\u7f6e\u3059\u308bMAGEL2\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u30ea\u30b5\u30a4\u30af\u30ea\u30f3\u30b0\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8f38\u9001\uff08\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u8f38\u9001\uff09\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u306f\u300c\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u30b3\u30d4\u30fc\u3060\u3051\u304c\u50cd\u304d\u3001\u6bcd\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u30b3\u30d4\u30fc\u306f\u7720\u3063\u3066\u3044\u308b\uff08\u767a\u73fe\u3057\u3066\u3044\u306a\u3044\uff09\u300d\u3068\u3044\u3046\u7236\u6027\u767a\u73fe\u306e\u6027\u8cea\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u50cd\u3044\u3066\u3044\u308b\u65b9\u306e\u7236\u89aa\u7531\u6765\u306eMAGEL2\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u6bcd\u89aa\u7531\u6765\u306eMAGEL2\u907a\u4f1d\u5b50\u306b\u540c\u69d8\u306e\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u3068\u3082\u3068\u7720\u3063\u3066\u3044\u308b\u305f\u3081\u75c7\u72b6\u306f\u73fe\u308c\u307e\u305b\u3093\u3002\u3053\u306e\u9055\u3044\u304c\u3001\u6b21\u306b\u8aac\u660e\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\u3084\u518d\u767a\u30ea\u30b9\u30af\u306e\u8003\u3048\u65b9\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88PWS%EF%BC%89%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader_willi\/\">\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08PWS\uff09<\/a>\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3082\u540c\u305815q11.2-q13\u3068\u3044\u3046\u9818\u57df\u306e\u7570\u5e38\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304c\u3001\u539f\u56e0\u306e\u7bc4\u56f2\u304cADMR14\u3068\u306f\u7570\u306a\u308a\u307e\u3059\u3002PWS\u306fMAGEL2\u3092\u542b\u3080\u300c\u8907\u6570\u306e\u907a\u4f1d\u5b50\u7fa4\u300d\u304c\u4e38\u3054\u3068\u6b20\u5931\u30fb\u6a5f\u80fd\u4e0d\u5168\u3092\u8d77\u3053\u3059\u306e\u306b\u5bfe\u3057\u3001ADMR14\u306fMAGEL2\u3068\u3044\u3046\u300c\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u300d\u3060\u3051\u306b\u5909\u7570\u304c\u3042\u308b\u70b9\u304c\u9055\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u81e8\u5e8a\u7684\u306b\u306f\u300cPWS\u306b\u4f3c\u3066\u3044\u308b\u304c\u3001\u9060\u4f4d\u306e\u95a2\u7bc0\u62d8\u7e2e\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u6027\u304c\u3088\u308a\u5f37\u304f\u51fa\u3084\u3059\u3044\u300d\u3068\u3044\u3046\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u5916\u898b\u7684\u306a\u7279\u5fb4\u3060\u3051\u3067\u4e21\u8005\u3092\u898b\u5206\u3051\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002\u6b21\u306e\u898b\u51fa\u3057\u3067\u3001\u5177\u4f53\u7684\u306a\u75c7\u72b6\u306e\u983b\u5ea6\u3092\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%97%87%E7%8A%B6%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BD%9C%E9%A0%BB%E5%BA%A6%E3%83%87%E3%83%BC%E3%82%BF%E3%81%A7%E8%A6%8B%E3%82%8B%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u75c7\u72b6\u306e\u7279\u5fb4\uff5c\u983b\u5ea6\u30c7\u30fc\u30bf\u3067\u898b\u308b\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u305d\u306e\u7d44\u307f\u5408\u308f\u305b\u3084\u91cd\u3055\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>GeneReviews\u306b\u96c6\u7a4d\u3055\u308c\u305f\u5831\u544a\u306b\u3082\u3068\u3065\u304f\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306e\u983b\u5ea6\u306e\u76ee\u5b89\u3092\u8868\u3067\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6<\/th><th>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u983b\u5ea6\u306e\u76ee\u5b89<\/th><\/tr><\/thead><tbody><tr><td>\u767a\u9054\u306e\u9045\u308c\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u7a0b\u5ea6\u306f\u4f4e\u6b63\u5e38\u301c\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308b\uff09<\/td><td>\u307b\u307c\u5168\u4f8b<\/td><\/tr><tr><td>\u65b0\u751f\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09<\/td><td>\u307b\u307c\u5168\u4f8b<\/td><\/tr><tr><td>\u4e73\u5150\u671f\u306e\u54fa\u4e73\u30fb\u6442\u98df\u56f0\u96e3<\/td><td>\u7d0495\u301c100%<\/td><\/tr><tr><td>\u9060\u4f4d\u95a2\u7bc0\u62d8\u7e2e\uff08\u624b\u9996\u30fb\u6307\u306a\u3069\u304c\u512a\u4f4d\uff09<\/td><td>85%\u8d85<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u6027<\/td><td>\u7d0475\u301c85%<\/td><\/tr><tr><td>\u7761\u7720\u6642\u7121\u547c\u5438<\/td><td>\u7d0470\u301c80%<\/td><\/tr><tr><td>\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u7aae\u8feb\uff08\u633f\u7ba1\u30fb\u4eba\u5de5\u547c\u5438\u5668\u304c\u5fc5\u8981\u306a\u4f8b\u306f\u7d0450%\u3001\u6c17\u7ba1\u5207\u958b\u304c\u5fc5\u8981\u306a\u4f8b\u306f\u7d0420%\uff09<\/td><td>\u7d0465\u301c75%<\/td><\/tr><tr><td>\u5074\u5f2f\u306a\u3069\u306e\u9aa8\u683c\u306e\u5909\u5316<\/td><td>\u7d0450\u301c60%<\/td><\/tr><tr><td>\u4f4e\u8eab\u9577<\/td><td>\u7d0450\u301c60%<\/td><\/tr><tr><td>\u6210\u4eba\u671f\u4ee5\u964d\u306e\u904e\u98df\u50be\u5411\u30fb\u4f53\u91cd\u5897\u52a0<\/td><td>\u7d0430\u301c40%<\/td><\/tr><tr><td>\u3051\u3044\u308c\u3093\u767a\u4f5c<\/td><td>\u7d0430\u301c40%<\/td><\/tr><\/tbody><\/table><figcaption>ADMR14\uff08Schaaf-Yang\u75c7\u5019\u7fa4\uff09\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u983b\u5ea6\u306e\u76ee\u5b89\uff08\u51fa\u5178\uff1aGeneReviews\uff09<\/figcaption><\/figure>\n\n\n\n<p>\u6570\u5b57\u3060\u3051\u3092\u898b\u308b\u3068\u4e0d\u5b89\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u3059\u3079\u3066\u63c3\u3063\u3066\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u7a0b\u5ea6\u3082\u4f4e\u6b63\u5e38\u57df\u304b\u3089\u304d\u308f\u3081\u3066\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u500b\u4eba\u5dee\u306e\u5927\u304d\u3055\u3002\u3053\u308c\u304cADMR14\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u6b20\u304b\u305b\u306a\u3044\u8996\u70b9\u3067\u3042\u308a\u3001\u5e73\u5747\u50cf\u3092\u5f53\u3066\u306f\u3081\u308b\u3088\u308a\u3001\u76ee\u306e\u524d\u306e\u304a\u5b50\u3055\u3093\u306e\u69d8\u5b50\u3092\u4e01\u5be7\u306b\u898b\u306a\u304c\u3089\u5fc5\u8981\u306a\u652f\u63f4\u3092\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/32362520_s-1.webp\" alt=\"\u533b\u8005\" class=\"wp-image-120157\"\/><\/figure><\/div>\n\n\n<p>\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u300c\u547c\u5438\u7aae\u8feb\u304c\u3042\u3063\u305f\u3068\u805e\u3044\u3066\u982d\u304c\u771f\u3063\u767d\u306b\u306a\u3063\u305f\u300d\u3068\u8a71\u3059\u3054\u5bb6\u65cf\u306b\u51fa\u4f1a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3001\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u7ba1\u7406\u3092\u4e57\u308a\u8d8a\u3048\u305f\u5f8c\u306f\u843d\u3061\u7740\u3044\u3066\u7d4c\u904e\u3059\u308b\u4f8b\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u4eca\u306e\u75c7\u72b6\u3060\u3051\u3067\u306a\u304f\u3001\u4eca\u5f8c\u3069\u306e\u3088\u3046\u306a\u7d4c\u904e\u3092\u305f\u3069\u308a\u3084\u3059\u3044\u304b\u3092\u4e3b\u6cbb\u533b\u3068\u3068\u3082\u306b\u7d99\u7d9a\u7684\u306b\u78ba\u8a8d\u3057\u3066\u3044\u304f\u59ff\u52e2\u304c\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E7%96%BE%E6%82%A3%EF%BD%9C%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AA%E3%81%A9%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>4. \u9451\u5225\u3059\u3079\u304d\u75be\u60a3\uff5c\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u306a\u3069\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>ADMR14\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u306e\u9045\u308c\u3068\u3044\u3046\u70b9\u3067\u4ed6\u306e\u75be\u60a3\u3068\u75c7\u72b6\u304c\u91cd\u306a\u308a\u3084\u3059\u304f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u9451\u5225\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/strong>\u4ee3\u8868\u7684\u306a\u9451\u5225\u75be\u60a3\u3068\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader_willi\/\">\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4<\/a>:<\/strong> \u540c\u305815q11.2-q13\u9818\u57df\u306e\u7570\u5e38\u3067\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50\u7fa4\u304c\u6b20\u5931\u3059\u308b\u70b9\u304cADMR14\u3068\u7570\u306a\u308a\u307e\u3059\u3002\u5171\u901a\u70b9\u304c\u591a\u3044\u4e00\u65b9\u3001\u95a2\u7bc0\u62d8\u7e2e\u306fPWS\u3067\u306f\u7a00\u3068\u3055\u308c\u3001\u7279\u5b9a\u306e\u9854\u8c8c\u3084\u3088\u308a\u9855\u8457\u306a\u904e\u98df\u304c\u307f\u3089\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/angelman-syndrome-comprehensive-guide\/\">\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4<\/a>:<\/strong> \u540c\u305815\u756a\u67d3\u8272\u4f53\u306e\u8fd1\u63a5\u9818\u57df\u304c\u95a2\u308f\u308b\u75be\u60a3\u3067\u3059\u304c\u3001\u539f\u56e0\u306fUBE3A\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3067\u3001\u591a\u304f\u306f\u6bcd\u89aa\u7531\u6765\u306e\u67d3\u8272\u4f53\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u306a\u3069\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u304cADMR14\u3068\u306f\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Opitz-Kaveggia\u75c7\u5019\u7fa4\uff08FG\u75c7\u5019\u7fa4\uff09:<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u4fbf\u79d8\u306a\u3069\u3092\u4f34\u3046X\u9023\u9396\u6027\u75be\u60a3\u3067\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u30fb\u907a\u4f1d\u5f62\u5f0f\u3068\u3082\u306bADMR14\u3068\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3044\u305a\u308c\u306e\u75be\u60a3\u3082\u3001\u898b\u305f\u76ee\u306e\u75c7\u72b6\u3060\u3051\u3067\u78ba\u5b9a\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u6b21\u306e\u898b\u51fa\u3057\u3067\u3001\u5b9f\u969b\u306b\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u306e\u304b\u3092\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E6%96%B9%E6%B3%95%EF%BD%9C%E3%83%A1%E3%83%81%E3%83%AB%E5%8C%96%E6%A4%9C%E6%9F%BB%E3%81%A8MAGEL2%E9%81%BA%E4%BC%9D%E5%AD%90%E8%A7%A3%E6%9E%90\"><\/span><strong>5. \u8a3a\u65ad\u65b9\u6cd5\uff5c\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u3068MAGEL2\u907a\u4f1d\u5b50\u89e3\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>ADMR14\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3092\u9664\u5916\u3059\u308b\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u3068\u3001MAGEL2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/strong>\u30e1\u30c1\u30eb\u5316\u3068\u306f\u3001DNA\u306b\u76ee\u5370\u304c\u3064\u304f\u3053\u3068\u3067\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u65b9(\u30aa\u30f3\u30fb\u30aa\u30d5)\u304c\u8abf\u6574\u3055\u308c\u308b\u4ed5\u7d44\u307f\u3067\u3059\u3002\u3053\u306e\u76ee\u5370\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u8abf\u3079\u308b\u306e\u304c\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u3067\u3001\u56fd\u5185\u306e\u8a3a\u65ad\u306e\u624b\u5f15\u304d\u3067\u3082\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u7d50\u679c\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u5fc5\u9808\u8981\u4ef6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E6%A8%99%E6%BA%96%E7%9A%84%E3%81%AA%E6%B5%81%E3%82%8C\"><\/span><strong>\u8a3a\u65ad\u306e\u6a19\u6e96\u7684\u306a\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u30e1\u30c1\u30eb\u5316\u89e3\u6790:<\/strong> 15q11.2\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u30d1\u30bf\u30fc\u30f3\u304c\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3084\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3092\u9664\u5916\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MAGEL2\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790\uff08\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3092\u542b\u3080\uff09:<\/strong> \u7236\u89aa\u7531\u6765\u30a2\u30ea\u30eb\u306e\u77ed\u7e2e\u578b\uff08\u5207\u65ad\u578b\uff09\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK567492\/\" target=\"_blank\" rel=\"noopener\">GeneReviews<\/a>\u306b\u3088\u308b\u3068\u3001\u914d\u5217\u89e3\u6790\u306b\u3088\u308b\u691c\u51fa\u7387\u306f99%\u4ee5\u4e0a\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89aa\u7531\u6765\u306e\u78ba\u8a8d:<\/strong> \u5909\u7570\u304c\u7236\u89aa\u7531\u6765\u3067\u3042\u308b\u3053\u3068\u3092\u4e21\u89aa\u306e\u691c\u67fb\u3084\u30e1\u30c1\u30eb\u5316\u611f\u53d7\u6027\u306e\u89e3\u6790\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002\u6bcd\u89aa\u7531\u6765\u306e\u5909\u7570\u3067\u306f\u767a\u75c7\u3057\u306a\u3044\u305f\u3081\u3001\u3053\u306e\u78ba\u8a8d\u304c\u8a3a\u65ad\u306e\u7cbe\u5ea6\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p><a href=\"https:\/\/www.shouman.jp\/disease\/html\/sindan\/13_37.html\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u306e\u8a3a\u65ad\u57fa\u6e96\u3067\u306f\u3001\u4e3b\u8981\u81e8\u5e8a\u75c7\u72b6\u3068\u3057\u3066\u300c\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u300d\u300c\u65b0\u751f\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d\u300c\u4e73\u5150\u671f\u306e\u54fa\u4e73\u4e0d\u826f\u300d\u300c\u9060\u4f4d\u5074\u512a\u4f4d\u306e\u95a2\u7bc0\u62d8\u7e2e\u300d\u306e4\u9805\u76ee\u304c\u6319\u3052\u3089\u308c\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3068\u95a2\u7bc0\u62d8\u7e2e\u306b\u52a0\u3048\u3066\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u307e\u305f\u306f\u54fa\u4e73\u4e0d\u826f\u306e\u3044\u305a\u308c\u304b\u3092\u8a8d\u3081\u3001\u304b\u3064\u7236\u89aa\u30a2\u30ea\u30eb\u7531\u6765\u306eMAGEL2\u907a\u4f1d\u5b50\u77ed\u7e2e\u578b\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u8981\u4ef6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u76ee\u7684<\/th><th>ADMR14\u3078\u306e\u5bfe\u5fdc<\/th><\/tr><\/thead><tbody><tr><td>\u30e1\u30c1\u30eb\u5316\u89e3\u6790\uff0815q11.2\u9818\u57df\uff09<\/td><td>\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff0f\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u9664\u5916<\/td><td>ADMR14\u3067\u306f\u6b63\u5e38\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3059<\/td><\/tr><tr><td>MAGEL2\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790<\/td><td>\u7236\u89aa\u7531\u6765\u30a2\u30ea\u30eb\u306e\u77ed\u7e2e\u578b\u5909\u7570\u306e\u7279\u5b9a<\/td><td>\u78ba\u5b9a\u8a3a\u65ad\u306e\u4e2d\u5fc3\u7684\u306a\u691c\u67fb\uff08\u691c\u51fa\u738799%\u4ee5\u4e0a\uff09<\/td><\/tr><tr><td>\u4e21\u89aa\u306e\u691c\u67fb\u30fb\u30e1\u30c1\u30eb\u5316\u611f\u53d7\u6027\u89e3\u6790<\/td><td>\u5909\u7570\u304c\u7236\u89aa\u7531\u6765\u304b\u6bcd\u89aa\u7531\u6765\u304b\u306e\u78ba\u8a8d<\/td><td>\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u5fc5\u9808<\/td><\/tr><\/tbody><\/table><figcaption>ADMR14\uff08Schaaf-Yang\u75c7\u5019\u7fa4\uff09\u306e\u8a3a\u65ad\u306b\u7528\u3044\u3089\u308c\u308b\u691c\u67fb\u306e\u6574\u7406<\/figcaption><\/figure>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_NIPT%E3%81%A7ADMR14%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B\"><\/span><strong>6. NIPT\u3067ADMR14\u306f\u308f\u304b\u308a\u307e\u3059\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u57fa\u672cNIPT\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u3044\u305a\u308c\u3067\u3082\u3001ADMR14\uff08MAGEL2\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\uff09\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>\u78ba\u5b9a\u3059\u308b\u306b\u306f\u3001\u51fa\u751f\u5f8c\uff08\u307e\u305f\u306f\u5bb6\u7cfb\u5185\u3067\u5909\u7570\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\uff09\u306e\u30e1\u30c1\u30eb\u5316\u89e3\u6790\u3068MAGEL2\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u304c\u8abf\u3079\u3066\u3044\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/\">\u67d3\u8272\u4f53<\/a>\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u3084\u3001\u62e1\u5927\u30d7\u30e9\u30f3\u3067\u5bfe\u8c61\u3068\u306a\u308b\u7279\u5b9a\u9818\u57df\u306e\u300c\u6b20\u5931\u30fb\u91cd\u8907\u300d\u3067\u3059\u3002\u4e00\u65b9\u3001ADMR14\u306e\u539f\u56e0\u306fMAGEL2\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\uff08\u77ed\u7e2e\u578b\u5909\u7570\uff09\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u306e\u6570\u3084\u5927\u304d\u306a\u69cb\u9020\u306e\u5909\u5316\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4ed5\u7d44\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u73fe\u5728\u306e\u4e00\u822c\u7684\u306aNIPT\u306e\u6280\u8853\u3067\u306f\u539f\u7406\u7684\u306b\u691c\u51fa\u306e\u5bfe\u8c61\u5916\u3067\u3059\u3002\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u5909\u5316\u5168\u822c\u3068NIPT\u306e\u95a2\u4fc2\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/\">\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068NIPT\u306e\u95a2\u4fc2\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u57fa\u672c\u30c8\u30ea\u30bd\u30df\u30fc\u30fb\u5168\u67d3\u8272\u4f53\u7570\u6570\u6027\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u91cd\u8907\u306b\u52a0\u3048\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3084WES\/WGS\u306b\u5bfe\u5fdc\u3057\u305f\u62e1\u5927\u691c\u67fb\u30d7\u30e9\u30f3\u3082\u53d6\u308a\u6271\u3063\u3066\u3044\u307e\u3059\u3002MAGEL2\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u306e\u30d7\u30e9\u30f3\u306e\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u30d7\u30e9\u30f3\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u3054\u691c\u8a0e\u4e2d\u306e\u5185\u5bb9\u3092\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u4e8b\u524d\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002\u3054\u5bb6\u65cf\u306b\u540c\u3058\u75be\u60a3\u3092\u304a\u6301\u3061\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u907a\u4f1d\u7684\u306a\u30ea\u30b9\u30af\u304c\u6c17\u306b\u306a\u308b\u65b9\u306f\u3001NIPT\u3068\u306f\u5225\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3054\u81ea\u8eab\u306b\u5408\u3046\u691c\u67fb\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u304a\u8a66\u3057\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%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%BD%9C%E5%A4%9A%E8%A7%92%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E4%BD%93%E5%88%B6\"><\/span><strong>7. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff5c\u591a\u89d2\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>MAGEL2\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u76f4\u63a5\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u4e00\u65b9\u3067\u3001\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u5408\u308f\u305b\u305f\u96c6\u5b66\u7684\u306a\u30b1\u30a2\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5927\u304d\u304f\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%80%9C%E4%B9%B3%E5%85%90%E6%9C%9F%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6442\u98df\u652f\u63f4:<\/strong> \u54fa\u4e73\u304c\u5f31\u3044\u5834\u5408\u306f\u3001\u5c02\u7528\u306e\u4e73\u9996\u3084\u7d4c\u9f3b\u80c3\u7ba1\u306b\u3088\u308b\u6804\u990a\u88dc\u7d66\u304c\u884c\u308f\u308c\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u80c3\u763b\u9020\u8a2d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u7ba1\u7406:<\/strong> \u65b0\u751f\u5150\u671f\u306b\u547c\u5438\u7aae\u8feb\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u306f\u633f\u7ba1\u30fb\u4eba\u5de5\u547c\u5438\u5668\u7ba1\u7406\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7761\u7720\u6642\u7121\u547c\u5438\u306b\u5bfe\u3057\u3066\u306fCPAP\uff08\u6301\u7d9a\u967d\u5727\u547c\u5438\u7642\u6cd5\uff09\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E9%AA%A8%E6%A0%BC%E3%83%BB%E5%86%85%E5%88%86%E6%B3%8C%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u767a\u9054\u652f\u63f4\u3068\u9aa8\u683c\u30fb\u5185\u5206\u6ccc\u306e\u7ba1\u7406<\/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\u30fb\u4f5c\u696d\u7642\u6cd5:<\/strong> \u95a2\u7bc0\u62d8\u7e2e\u306b\u5bfe\u3059\u308b\u30b9\u30c8\u30ec\u30c3\u30c1\u3084\u88c5\u5177\u7642\u6cd5\u3001\u7b4b\u529b\u5f37\u5316\u306b\u53d6\u308a\u7d44\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5:<\/strong> \u8a00\u8a9e\u767a\u9054\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u30b5\u30a4\u30f3\u3084ICT\u6d3b\u7528\u3092\u542b\u3080\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u7372\u5f97\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5:<\/strong> \u4f4e\u8eab\u9577\u304c\u307f\u3089\u308c\u308b\u4f8b\u3067\u306f\u3001\u533b\u5e2b\u306e\u5224\u65ad\u306e\u3082\u3068\u3067\u5c0e\u5165\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u5bc6\u5ea6\u30fb\u9aa8\u683c\u306e\u7d4c\u904e\u89b3\u5bdf:<\/strong> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK567492\/\" target=\"_blank\" rel=\"noopener\">GeneReviews<\/a>\u3067\u306f\u30015\u6b73\u9803\u304b\u30892\u5e74\u3054\u3068\u306e\u9aa8\u5bc6\u5ea6\u691c\u67fb\uff08DXA\uff09\u3068\u3001\u5074\u5f2f\u306a\u3069\u9aa8\u683c\u306e\u5909\u5316\u306b\u5bfe\u3059\u308b\u6574\u5f62\u5916\u79d1\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u30fb\u5fc3\u7406\u7684\u652f\u63f4:<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u306e\u5c02\u9580\u7684\u306a\u7642\u80b2\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u65e9\u671f\u7642\u80b2\u306e\u8003\u3048\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-early-intervention-brain-science-hope\/\">\u65e9\u671f\u7642\u80b2\u306b\u95a2\u3059\u308b\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6cbb\u7642\u65b9\u91dd\u3082\u652f\u63f4\u8a08\u753b\u3082\u3001\u304a\u5b50\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u5909\u308f\u308a\u307e\u3059\u3002\u753b\u4e00\u7684\u306a\u6b63\u89e3\u306f\u306a\u304f\u3001\u3042\u304f\u307e\u3067\u500b\u5225\u6700\u9069\u5316\u3002\u5c0f\u5150\u79d1\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u3068\u3082\u306b\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u30d7\u30e9\u30f3\u3092\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%A8%E5%86%8D%E7%99%BA%E3%83%AA%E3%82%B9%E3%82%AF\"><\/span><strong>8. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u518d\u767a\u30ea\u30b9\u30af<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>ADMR14\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306f\u3001\u7d04\u534a\u6570\u304c\u75c7\u72b6\u306e\u306a\u3044\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3001\u6b8b\u308a\u7d04\u534a\u6570\u306f\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u65b0\u305f\u306b\u751f\u3058\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/strong>\u3053\u306e\u5272\u5408\u306f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK567492\/\" target=\"_blank\" rel=\"noopener\">GeneReviews<\/a>\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7236\u89aa\u304c\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u305d\u306e\u5909\u7570\u306f\u7236\u89aa\u81ea\u8eab\u306b\u3068\u3063\u3066\u306f\u6bcd\u89aa\u7531\u6765\uff08\u7720\u3063\u3066\u3044\u308b\u5074\uff09\u306e\u30b3\u30d4\u30fc\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u7236\u89aa\u81ea\u8eab\u306f\u7121\u75c7\u72b6\u306e\u307e\u307e\u7d4c\u904e\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u7236\u89aa\u304b\u3089\u304a\u5b50\u3055\u3093\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3068\u3001\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u306f\u7236\u89aa\u7531\u6765\uff08\u50cd\u304f\u5074\uff09\u306e\u30b3\u30d4\u30fc\u306b\u306a\u308a\u3001\u767a\u75c7\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u3053\u306e\u300c\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u306e\u305f\u3081\u3001\u5bb6\u65cf\u8a08\u753b\u306b\u304a\u3044\u3066\u306f\u5c02\u9580\u7684\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7236\u89aa\u304c\u5909\u7570\u3092\u4fdd\u56e0\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u7406\u8ad6\u4e0a50%\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u5b9f\u969b\u306e\u907a\u4f1d\u5f62\u5f0f\u3084\u691c\u67fb\u7d50\u679c\u306b\u3088\u3063\u3066\u500b\u5225\u306b\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002\u65b0\u751f\u7a81\u7136\u5909\u7570\u306e\u5834\u5408\u306f\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u3054\u304f\u307e\u308c\u306b\u751f\u6b96\u7d30\u80de\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3068\u3044\u3046\u73fe\u8c61\u304c\u3042\u308b\u305f\u3081\u3001\u5fc3\u914d\u306a\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3053\u3068\u3067\u3001\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u3054\u5bb6\u65cf\u3068\u3064\u306a\u304c\u3063\u305f\u308a\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u8a08\u753b\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n<p>\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3001\u300c\u81ea\u5206\u304c\u539f\u56e0\u3067\u5b50\u3069\u3082\u306b\u91cd\u3044\u75c7\u72b6\u304c\u51fa\u305f\u306e\u3067\u306f\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u7236\u89aa\u306b\u4f55\u5ea6\u3082\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3051\u308c\u3069\u3001\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u3068\u3044\u3046\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u4e0a\u3001\u7236\u89aa\u81ea\u8eab\u306b\u75c7\u72b6\u304c\u306a\u304f\u3066\u3082\u5909\u7570\u304c\u4f1d\u308f\u308b\u3053\u3068\u306f\u8d77\u3053\u308a\u5f97\u307e\u3059\u3002\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u65b9\u305d\u306e\u3082\u306e\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6%E3%83%BB%E5%AE%B6%E6%97%8F%E6%94%AF%E6%8F%B4\"><\/span><strong>9. \u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u30fb\u5bb6\u65cf\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>ADMR14\uff08\u30b7\u30e3\u30fc\u30d5\u30fb\u30e4\u30f3\u30b0\u75c7\u5019\u7fa4\uff09\u306f\u300118\u6b73\u672a\u6e80\uff08\u5f15\u304d\u7d9a\u304d\u6cbb\u7642\u304c\u5fc5\u8981\u306a\u5834\u5408\u306f20\u6b73\u672a\u6e80\u307e\u3067\uff09\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\uff08\u544a\u793a\u756a\u53f721\u30fb\u67d3\u8272\u4f53\u53c8\u306f\u907a\u4f1d\u5b50\u306b\u5909\u5316\u3092\u4f34\u3046\u75c7\u5019\u7fa4\uff09\u3068\u3057\u3066\u3001\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u5f97\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p><a href=\"https:\/\/www.shouman.jp\/disease\/html\/sindan\/13_37.html\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u306b\u3088\u308b\u3068\u3001\u5bfe\u8c61\u3068\u306a\u308b\u304b\u3069\u3046\u304b\u306f\u75c7\u72b6\u30fb\u6295\u4e0e\u85ac\u5264\u30fb\u547c\u5438\u7ba1\u7406\u306a\u3069\u306e\u91cd\u75c7\u5ea6\u57fa\u6e96\u3092\u6e80\u305f\u3059\u304b\u3067\u5224\u65ad\u3055\u308c\u307e\u3059\u3002\u7533\u8acb\u306b\u306f\u8a3a\u65ad\u306e\u624b\u5f15\u304d\u306b\u3082\u3068\u3065\u304f\u533b\u7642\u610f\u898b\u66f8\u304c\u5fc5\u8981\u3068\u306a\u308b\u305f\u3081\u3001\u8a73\u7d30\u306a\u624b\u7d9a\u304d\u306f\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u7a93\u53e3\u3001\u307e\u305f\u306f\u4e3b\u6cbb\u533b\u30fb\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u7acb\u3057\u306a\u3044\u3088\u3046\u3001\u516c\u7684\u306a\u76f8\u8ac7\u7a93\u53e3\u306e\u60c5\u5831\u3092\u65e9\u3081\u306b\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5fc3\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002\u304d\u3087\u3046\u3060\u3044\u5150\u306e\u30b1\u30a2\u3084\u5bb6\u65cf\u5168\u4f53\u306e\u5fc3\u7406\u7684\u652f\u63f4\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-family-support-sibling-care-mental-health\/\">\u5bb6\u65cf\u652f\u63f4\u306b\u95a2\u3059\u308b\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u540c\u3058\u7d4c\u9a13\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3067\u3001\u65e5\u3005\u306e\u5de5\u592b\u3084\u6c17\u6301\u3061\u306e\u6574\u7406\u3092\u5206\u304b\u3061\u5408\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u9762\u3067\u306f\u3001MAGEL2\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u88dc\u3046\u30a2\u30d7\u30ed\u30fc\u30c1\u3084\u3001\u7720\u3063\u3066\u3044\u308b\u6bcd\u89aa\u7531\u6765\u306eMAGEL2\u907a\u4f1d\u5b50\u3092\u85ac\u7406\u5b66\u7684\u306b\u50cd\u304b\u305b\u308b\u624b\u6cd5\u306a\u3069\u304c\u57fa\u790e\u7814\u7a76\u306e\u6bb5\u968e\u3067\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u9078\u629e\u80a2\u306e\u5e83\u304c\u308a\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=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ADMR14\uff08Autosomal Dominant Mental Retardation 14\uff09\u306f\u3001<strong>15\u756a\u67d3\u8272\u4f53\uff0815q11.2\uff09\u306b\u3042\u308bMAGEL2\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\u3067\u8d77\u3053\u308b\u795e\u7d4c\u767a\u9054\u75c7\u3067\u3001\u8fd1\u5e74\u306f\u300cSchaaf-Yang\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u3067\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\uff08\u544a\u793a\u756a\u53f721\uff09\u306b\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b2\u30ce\u30e0\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u306e\u4ed5\u7d44\u307f\u306b\u3088\u308a\u3001\u50cd\u3044\u3066\u3044\u308b\u7236\u89aa\u7531\u6765\u306eMAGEL2\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u305f\u5834\u5408\u306e\u307f\u767a\u75c7\u3057\u307e\u3059\u3002\u6bcd\u89aa\u7531\u6765\u306e\u5909\u7570\u306f\u901a\u5e38\u767a\u75c7\u306b\u95a2\u4e0e\u3057\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u306e\u9045\u308c\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u6442\u98df\u56f0\u96e3\u30fb\u9060\u4f4d\u95a2\u7bc0\u62d8\u7e2e\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u6027\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3001\u983b\u5ea6\u3084\u91cd\u3055\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3068\u75c7\u72b6\u304c\u4f3c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7bc4\u56f2\uff08\u5358\u4e00\u907a\u4f1d\u5b50\u304b\u8907\u6570\u907a\u4f1d\u5b50\u7fa4\u304b\uff09\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u57fa\u672c\u30fb\u62e1\u5927\u3068\u3082\uff09\u306f\u5bfe\u8c61\u5916\u3067\u3059\u3002\u78ba\u5b9a\u306b\u306f\u30e1\u30c1\u30eb\u5316\u89e3\u6790\u3068MAGEL2\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790\uff08\u7236\u89aa\u7531\u6765\u30a2\u30ea\u30eb\u306e\u5909\u7570\u78ba\u8a8d\u3092\u542b\u3080\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6839\u672c\u6cbb\u7642\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u30fb\u767a\u9054\u652f\u63f4\u3068\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306b\u3088\u308b\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u3001\u5bb6\u65cf\u4f1a\u306a\u3069\u306e\u652f\u63f4\u3092\u6d3b\u7528\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u95a2\u9023\u3059\u308b\u75be\u60a3\u3084\u691c\u67fb\u306b\u3064\u3044\u3066\u3082\u6c17\u306b\u306a\u308b\u65b9\u306f\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/prader_willi\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u75c7\u5019\u7fa4\/\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08Prader-Willi \/ Angelman syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">Prader-Willi\u75c7\u5019\u7fa4\uff08PWS\uff09\u3068Angelman\u75c7\u5019\u7fa4\uff08AS\uff09\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u7b56\u306b\u3064\u3044\u3066...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/nipt-autism-developmental-disorders-detection\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u3067\u767a\u9054\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u306f\u308f\u304b\u308b\uff1f\u691c\u67fb\u306e\u9650\u754c\u3068\u907a\u4f1d\u306e\u771f\u5b9f <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084ADHD\u306a\u3069\u306e\u767a\u9054\u969c\u5bb3\u306f\u8a3a\u65ad\u3067\u304d\u308b\u306e\u304b\uff1f\u691c\u67fb\u3067\u5224\u660e\u3059\u308b\u300c\u67d3\u8272\u4f53\u8d77\u56e0\u306e\u77e5\u7684\u969c\u5bb3\u300d\u3068\u306e\u6c7a\u5b9a\u7684\u306a\u9055\u3044\u3001\u30c0\u30a6...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306e\u907a\u4f1d\u7684\u306a\u30ea\u30b9\u30af\u3084\u3001NIPT\u3067\u3069\u3053\u307e\u3067\u8abf\u3079\u3089\u308c\u308b\u304b\u304c\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u304a\u8a66\u3057\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ADMR14%E3%81%A8Schaaf-Yang%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>ADMR14\u3068Schaaf-Yang\u75c7\u5019\u7fa4\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u540c\u3058\u75c5\u6c17\u3067\u3059\u3002\u300cAutosomal Dominant Mental Retardation 14\u300d\u306f\u901a\u3057\u756a\u53f7\u306b\u3088\u308b\u540d\u79f0\u3067\u3001\u539f\u56e0\u907a\u4f1d\u5b50MAGEL2\u306e\u767a\u898b\u3068\u5831\u544a\u306b\u3061\u306a\u3093\u3067\u300cSchaaf-Yang\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u56fd\u5185\u306e\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3067\u306f\u300c\u30b7\u30e3\u30fc\u30d5\u30fb\u30e4\u30f3\u30b0\u75c7\u5019\u7fa4\u300d\u306e\u540d\u79f0\u3067\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ADMR14%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>ADMR14\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u672cNIPT\u30fb\u62e1\u5927NIPT\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09\u306e\u3044\u305a\u308c\u3067\u3082\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u539f\u56e0\u3067\u3042\u308b\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\uff08\u77ed\u7e2e\u578b\u5909\u7570\uff09\u306f\u3001\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3084\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\u3068\u306f\u4ed5\u7d44\u307f\u304c\u7570\u306a\u308b\u305f\u3081\u3067\u3059\u3002\u78ba\u5b9a\u3059\u308b\u306b\u306f\u3001\u51fa\u751f\u5f8c\uff08\u307e\u305f\u306f\u5bb6\u7cfb\u5185\u5909\u7570\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\uff09\u306e\u30e1\u30c1\u30eb\u5316\u89e3\u6790\u3068MAGEL2\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%97%E3%83%A9%E3%83%80%E3%83%BC%E3%83%BB%E3%82%A6%E3%82%A3%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3068\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3069\u3061\u3089\u3082\u540c\u305815q11.2-q13\u9818\u57df\u304c\u95a2\u308f\u308b\u75c5\u6c17\u3067\u3059\u304c\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u306fMAGEL2\u3092\u542b\u3080\u8907\u6570\u306e\u907a\u4f1d\u5b50\u7fa4\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u306e\u306b\u5bfe\u3057\u3001ADMR14\u306fMAGEL2\u3068\u3044\u3046\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u3060\u3051\u306b\u5909\u7570\u304c\u3042\u308b\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u75c7\u72b6\u306f\u4f3c\u3066\u3044\u308b\u90e8\u5206\u304c\u591a\u3044\u4e00\u65b9\u3001ADMR14\u3067\u306f\u9060\u4f4d\u306e\u95a2\u7bc0\u62d8\u7e2e\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u6027\u304c\u3088\u308a\u5f37\u304f\u51fa\u3084\u3059\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d04\u534a\u6570\u306f\u75c7\u72b6\u306e\u306a\u3044\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3001\u6b8b\u308a\u7d04\u534a\u6570\u306f\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u65b0\u305f\u306b\u751f\u3058\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u7236\u89aa\u304c\u5909\u7570\u3092\u4fdd\u56e0\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u7406\u8ad6\u4e0a50%\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u500b\u5225\u306e\u72b6\u6cc1\u306b\u3088\u3063\u3066\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002\u65b0\u751f\u7a81\u7136\u5909\u7570\u306e\u5834\u5408\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u5fc3\u914d\u306a\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u3067\u306f\u3001\u4f4e\u6b63\u5e38\u57df\u304b\u3089\u304d\u308f\u3081\u3066\u91cd\u5ea6\u307e\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u7a0b\u5ea6\u306b\u5927\u304d\u306a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u540c\u3058\u3088\u3046\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u5e73\u5747\u50cf\u3092\u5f53\u3066\u306f\u3081\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u76ee\u306e\u524d\u306e\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u306e\u69d8\u5b50\u3092\u4e01\u5be7\u306b\u898b\u306a\u304c\u3089\u3001\u5fc5\u8981\u306a\u7642\u80b2\u3084\u652f\u63f4\u3092\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u533b\u7642\u8cbb\u306e\u52a9\u6210\u5236\u5ea6\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>18\u6b73\u672a\u6e80\uff08\u5f15\u304d\u7d9a\u304d\u6cbb\u7642\u304c\u5fc5\u8981\u306a\u5834\u5408\u306f20\u6b73\u672a\u6e80\u307e\u3067\uff09\u306f\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\uff08\u544a\u793a\u756a\u53f721\u30fb\u67d3\u8272\u4f53\u53c8\u306f\u907a\u4f1d\u5b50\u306b\u5909\u5316\u3092\u4f34\u3046\u75c7\u5019\u7fa4\uff09\u3068\u3057\u3066\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u5f97\u307e\u3059\u3002\u5bfe\u8c61\u3068\u306a\u308b\u304b\u306f\u75c7\u72b6\u30fb\u6295\u4e0e\u85ac\u5264\u30fb\u547c\u5438\u7ba1\u7406\u306a\u3069\u306e\u57fa\u6e96\u3067\u5224\u65ad\u3055\u308c\u3001\u7533\u8acb\u306b\u306f\u8a3a\u65ad\u306e\u624b\u5f15\u304d\u306b\u3082\u3068\u3065\u304f\u533b\u7642\u610f\u898b\u66f8\u304c\u5fc5\u8981\u3067\u3059\u3002\u7a93\u53e3\u306f\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001GeneReviews\u30fb<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13316\/schaaf-yang-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 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