{"id":16804,"date":"2026-01-20T04:54:00","date_gmt":"2026-01-20T04:54:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16804"},"modified":"2026-07-18T10:00:29","modified_gmt":"2026-07-18T10:00:29","slug":"19p13-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/19p13-duplication-syndrome\/","title":{"rendered":"19p13\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb19\u30c8\u30ea\u30bd\u30df\u30fc\u3068\u306e\u9055\u3044"},"content":{"rendered":"\n<p><strong>19p13\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u300119\u756a\u67d3\u8272\u4f53\u306e\u77ed\u815513\u9818\u57df\u304c\u90e8\u5206\u7684\u306b\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u5897\u3048\u308b\uff09\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u304c\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u300c19\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u3068\u3044\u3046\u8a00\u8449\u3067\u8abf\u3079\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u751f\u307e\u308c\u3066\u304f\u308b\u304a\u5b50\u3055\u3093\u3067\u898b\u3089\u308c\u308b\u306e\u306f\u3001\u591a\u304f\u304c\u3053\u306e19p\u306e\u4e00\u90e8\u3060\u3051\u304c\u5897\u3048\u305f\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5916\u6765\u3067\u3054\u5bb6\u65cf\u3068\u304a\u8a71\u3057\u3057\u3066\u3044\u308b\u3068\u3001\u300c19\u30c8\u30ea\u30bd\u30df\u30fc\u3068\u8abf\u3079\u3066\u4e0d\u5b89\u3067\u3044\u3063\u3071\u3044\u306b\u306a\u3063\u305f\u300d\u3068\u3044\u3046\u58f0\u3092\u3088\u304f\u3044\u305f\u3060\u304d\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u300119p13\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u3092\u3001\u516c\u7684\u306a\u533b\u7642\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002\u5f53\u4e8b\u8005\u3084\u3054\u5bb6\u65cf\u304c\u300c\u6b21\u306b\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u307e\u3067\u5206\u304b\u308b\u5185\u5bb9\u3092\u76ee\u6307\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #cdd7e6;background:#f4f8fc;border-radius:10px;padding:16px 20px;margin:22px 0;\">\n<p style=\"font-weight:700;margin:0 0 10px;font-size:1.05em;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;line-height:1.9;\">\n<li>19p13\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u30fb\u7279\u5fb4\u3068\u3001\u91cd\u75c7\u5ea6\u306e\u5e45<\/li>\n<li>\u300c19\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u3068\u306e\u9055\u3044\u3068\u95a2\u4fc2<\/li>\n<li>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\uff08NFIX\u30fbCACNA1A\u306a\u3069\uff09\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f<\/li>\n<li>\u8a3a\u65ad\u306b\u4f7f\u3046\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u306a\u3069\uff09<\/li>\n<li>\u7642\u80b2\u30fb\u533b\u7642\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8<\/li>\n<\/ul>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">19p13\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\uff08\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d\uff09<\/h2>\n\n\n\n<p><strong>19p13\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u300119\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\uff09\u306b\u3042\u308b13\u306e\u9818\u57df\u306e\u4e00\u90e8\u304c3\u672c\u5206\u306b\u5897\u3048\u308b\u300c\u5fae\u7d30\u91cd\u8907\u300d\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u3067\u3059\u3002<\/strong>\u8fd1\u5e74\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u306e\u666e\u53ca\u3067\u3001\u898b\u3064\u304b\u308b\u6a5f\u4f1a\u304c\u5897\u3048\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u306e\u5834\u9762\u3067\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u547c\u3073\u540d\u3067\u8868\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u547c\u3073\u65b9\u306f\u9055\u3063\u3066\u3082\u3001\u6307\u3057\u3066\u3044\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\u306f\u5171\u901a\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u547c\u79f0<\/th><th>\u610f\u5473\u30fb\u88dc\u8db3<\/th><\/tr><\/thead><tbody><tr><td>19p13\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4<\/td><td>19p13 microduplication syndrome\u3002\u3054\u304f\u5c0f\u3055\u306a\u91cd\u8907\u3092\u6307\u3059\u547c\u3073\u65b9<\/td><\/tr><tr><td>\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc19p13<\/td><td>Partial trisomy 19p13\u300219p\u306e\u4e00\u90e8\u304c3\u672c\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b<\/td><\/tr><tr><td>19p13.1\uff0f13.2\uff0f13.3\u91cd\u8907\u75c7\u5019\u7fa4<\/td><td>19p13\u306e\u3069\u306e\u30d0\u30f3\u30c9\u304c\u91cd\u8907\u3059\u308b\u304b\u3067\u7d30\u304b\u304f\u5206\u3051\u3066\u547c\u3076\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td>19p13\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09<\/td><td>19p13 copy number variant, duplication<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">\u300c19\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u3068\u306e\u9055\u3044\u3068\u95a2\u4fc2<\/h2>\n\n\n\n<p><strong>19\u756a\u67d3\u8272\u4f53\u304c\u307e\u308b\u3054\u30683\u672c\u306b\u306a\u308b\u300c\u5b8c\u5168\u306a19\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u306f\u6d41\u7523\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u307e\u308c\u3066\u304f\u308b\u304a\u5b50\u3055\u3093\u3067\u898b\u3089\u308c\u308b\u306e\u306f\u300119p\u306e\u4e00\u90e8\u3060\u3051\u304c\u91cd\u8907\u3059\u308b\u300c\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff08\uff1d19p13\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u300d\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u300c19\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u3068\u691c\u7d22\u3055\u308c\u308b\u3068\u304d\u3001\u305d\u306e\u591a\u304f\u306f19\u756a\u67d3\u8272\u4f53\u3059\u3079\u3066\u304c1\u672c\u591a\u3044\u72b6\u614b\u3092\u30a4\u30e1\u30fc\u30b8\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u306019\u756a\u306f\u30b5\u30a4\u30ba\u304c\u5c0f\u3055\u3044\u308f\u308a\u306b\u907a\u4f1d\u5b50\u304c\u591a\u304f\u3001\u5168\u4f53\u304c3\u672c\u306b\u306a\u308b\u3068\u80ce\u5150\u304c\u80b2\u3061\u306b\u304f\u3044\u305f\u3081\u3001\u51fa\u751f\u306b\u81f3\u308b\u3053\u3068\u306f\u307e\u308c\u3067\u3059\u3002\u5b9f\u969b\u306b\u76f8\u8ac7\u3068\u3057\u3066\u5c4a\u304f\u306e\u306f\u300119p\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u305f\u300c\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u306e\u30b1\u30fc\u30b9\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u304c1\u672c\u591a\u3044\u300c\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u306b\u306f\u3001\u751f\u307e\u308c\u3066\u304f\u308b\u304a\u5b50\u3055\u3093\u304c\u6bd4\u8f03\u7684\u591a\u3044\u30bf\u30a4\u30d7\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/down-syndrome\/\">\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\uff0821\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/patau-syndrome\/\">\u30d1\u30c8\u30a6\u75c7\u5019\u7fa4\uff0813\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/a>\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u306719\u756a\u306e\u3088\u3046\u306b\u67d3\u8272\u4f53\u5168\u4f53\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u751f\u5b58\u306b\u3064\u306a\u304c\u308a\u306b\u304f\u3044\u3082\u306e\u3082\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/trisomy-8p-syndrome\/\">8p\u30c8\u30ea\u30bd\u30df\u30fc\uff088p\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/a>\u306e\u3088\u3046\u306b\u300c\u4e00\u90e8\u3060\u3051\u306e\u91cd\u8907\uff08\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u300d\u3068\u3057\u3066\u73fe\u308c\u308b\u30b1\u30fc\u30b9\u304c\u81e8\u5e8a\u3067\u306f\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5bfe\u8c61\u3068\u306a\u308b\u67d3\u8272\u4f53\u9818\u57df\u3068\u95a2\u308f\u308b\u907a\u4f1d\u5b50<\/h2>\n\n\n\n<p><strong>\u91cd\u8907\u304c\u8d77\u3053\u308b\u306e\u306f19\u756a\u67d3\u8272\u4f53\u306e\u77ed\u815513\u9818\u57df\uff0819p13.1\u301c19p13.3\uff09\u3067\u3001\u3053\u306e\u5834\u6240\u306f\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e\u4e2d\u3067\u3082\u7279\u306b\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>19\u756a\u67d3\u8272\u4f53\u306f\u7d045,900\u4e07\u5869\u57fa\u5bfe\u3068\u5c0f\u3055\u3081\u3067\u3059\u304c\u3001\u304a\u3088\u305d1,500\u500b\u306e\u907a\u4f1d\u5b50\u304c\u8a70\u307e\u3063\u3066\u304a\u308a\u3001<strong>\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u6700\u3082\u9ad8\u3044\u67d3\u8272\u4f53\u306e\u3072\u3068\u3064<\/strong>\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\uff08MedlinePlus Genetics\uff09\u3002\u305d\u306e\u305f\u3081\u540c\u3058\u5927\u304d\u3055\u306e\u91cd\u8907\u3067\u3082\u5f71\u97ff\u3092\u53d7\u3051\u308b\u907a\u4f1d\u5b50\u304c\u591a\u304f\u3001\u75c7\u72b6\u304c\u5e45\u5e83\u304f\u306a\u308a\u3084\u3059\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>19p13\u306f\u3055\u3089\u306b\u7d30\u304b\u3044\u30d0\u30f3\u30c9\u306b\u5206\u304b\u308c\u3001\u3069\u3053\u304c\u91cd\u8907\u3059\u308b\u304b\u3067\u73fe\u308c\u3084\u3059\u3044\u7279\u5fb4\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u304a\u304a\u307e\u304b\u306a\u76ee\u5b89\u3092\u8868\u306b\u307e\u3068\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u30d0\u30f3\u30c9<\/th><th>\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50<\/th><th>\u95a2\u308f\u308a\u3084\u3059\u3044\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>19p13.13<\/td><td><em>NFIX<\/em>\u3001<em>CACNA1A<\/em><\/td><td>\u6210\u9577\uff08\u904e\u6210\u9577\uff0f\u4f4e\u6210\u9577\uff09\u3001\u3066\u3093\u304b\u3093\u3001\u767a\u9054\u306e\u7279\u6027<\/td><\/tr><tr><td>19p13.2<\/td><td><em>SMARCA4<\/em>\u3001<em>DNM2<\/em><\/td><td>\u767a\u9054\u306e\u9045\u308c\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/td><\/tr><tr><td>19p13.3<\/td><td><em>MAP2K2<\/em> \u306a\u3069<\/td><td>\u672b\u7aef\u5074\u306e\u9818\u57df\u3002\u9854\u3064\u304d\u3084\u767a\u9054\u306b\u95a2\u308f\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u540c\u3058\u30d0\u30f3\u30c9\u306e\u91cd\u8907\u3067\u3082\u75c7\u72b6\u306e\u91cd\u3055\u306f\u4e00\u4eba\u3072\u3068\u308a\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u4e00\u89a7\u306f\u3042\u304f\u307e\u3067\u300c\u95a2\u308f\u308a\u3084\u3059\u3044\u50be\u5411\u300d\u3067\u3042\u3063\u3066\u3001\u5fc5\u305a\u305d\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3068\u3044\u3046\u610f\u5473\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e3b\u306a\u75c7\u72b6\u30fb\u7279\u5fb4<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-1.jpg\" alt=\"\u5b50\u3069\u3082\u306e\u767a\u9054\u3092\u3084\u3055\u3057\u304f\u898b\u5b88\u308b\u4fdd\u8b77\u8005\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17836\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-1.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-1-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-1-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-1-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>19p13\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u30fb\u8a00\u8449\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u30fb\u6210\u9577\u306e\u554f\u984c\u304c\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306b\u5171\u901a\u3057\u3066\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u91cd\u75c7\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5927\u304d\u306a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u307e\u305a\u5168\u4f53\u50cf\u3092\u8868\u3067\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u9818\u57df<\/th><th>\u307f\u3089\u308c\u3084\u3059\u3044\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5<\/td><td>\u77e5\u7684\u969c\u5bb3\uff08\u8efd\u5ea6\u301c\u91cd\u5ea6\uff09\u3001\u8a00\u8449\u306e\u9045\u308c\u3001\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/td><\/tr><tr><td>\u6210\u9577\u30fb\u8eab\u4f53<\/td><td>\u904e\u6210\u9577\u307e\u305f\u306f\u4f4e\u8eab\u9577\u3001\u982d\u56f2\u306e\u5927\u5c0f\u3001\u6442\u98df\u306e\u554f\u984c<\/td><\/tr><tr><td>\u9854\u3064\u304d<\/td><td>\u5e83\u3044\u984d\u3001\u76ee\u306e\u9593\u9694\u3001\u8033\u306e\u4f4d\u7f6e\u3084\u5f62\u306e\u9055\u3044\u306a\u3069<\/td><\/tr><tr><td>\u884c\u52d5\u30fb\u7cbe\u795e<\/td><td>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3084ADHD\u306e\u7279\u6027\u3001\u7761\u7720\u306e\u554f\u984c<\/td><\/tr><tr><td>\u5408\u4f75\u75c7<\/td><td>\u3066\u3093\u304b\u3093\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u624b\u8db3\u3084\u814e\u30fb\u6ccc\u5c3f\u5668\u306e\u9055\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">\u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/h3>\n\n\n\n<p>\u307b\u307c\u5168\u3066\u306e\u304a\u5b50\u3055\u3093\u3067\u3001\u4f55\u3089\u304b\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u8a00\u8449\u306e\u9762\u3067\u306f\u3001\u7406\u89e3\u306b\u6bd4\u3079\u3066\u300c\u8a71\u3059\u3053\u3068\u300d\u304c\u82e6\u624b\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u77e5\u7684\u969c\u5bb3\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u304f\u3001\u8a00\u8449\u306e\u9045\u308c\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/li><li>\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u3001\u6b69\u304d\u59cb\u3081\u306a\u3069\u306e\u904b\u52d5\u306e\u7bc0\u76ee\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li><li>\u4e73\u5e7c\u5150\u671f\u306b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u304c\u307f\u3089\u308c\u3001\u52d5\u304d\u306e\u304e\u3053\u3061\u306a\u3055\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u6210\u9577\u30fb\u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/h3>\n\n\n\n<p>\u6210\u9577\u306b\u3064\u3044\u3066\u306f\u3001\u91cd\u8907\u3059\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u300c\u5927\u304d\u304f\u306a\u308b\u300d\u304b\u300c\u5c0f\u3055\u304f\u306a\u308b\u300d\u304b\u304c\u5206\u304b\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<em>NFIX<\/em>\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u3063\u3066\u904e\u6210\u9577\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u9ad8\u8eab\u9577\u3084\u5927\u304d\u3081\u306e\u4f53\u683c\u304c\u7279\u5fb4\u3068\u306a\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/sotos-syndrome\/\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4<\/a>\u3068\u4f3c\u305f\u5370\u8c61\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>19p13.13\u306e\u91cd\u8907\u3067\u306f\u904e\u6210\u9577\uff08\u80cc\u304c\u9ad8\u3044\u3001\u4f53\u304c\u5927\u304d\u3044\uff09\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li><li>\u4e00\u65b9\u3067\u3001\u51fa\u751f\u5f8c\u306e\u6210\u9577\u306e\u9045\u308c\u3084\u4f4e\u8eab\u9577\u304c\u5831\u544a\u3055\u308c\u308b\u30bf\u30a4\u30d7\u3082\u3042\u308a\u307e\u3059\u3002<\/li><li>\u4e73\u5150\u671f\u306b\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u3084\u98df\u6b32\u4e0d\u632f\u304c\u3042\u308b\u3068\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u9854\u3064\u304d\uff08\u5f62\u614b\u7684\u306a\u7279\u5fb4\uff09<\/h3>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u7279\u6709\u300d\u3068\u4e00\u8a00\u3067\u8a00\u3048\u308b\u9854\u3064\u304d\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u70b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u5e83\u3044\u984d\u3001\u76ee\u306e\u9593\u9694\u304c\u5e83\u3081\u3001\u307e\u3076\u305f\u306e\u30e9\u30a4\u30f3\uff08\u30bf\u30ec\u76ee\u30fb\u3064\u308a\u76ee\uff09\u306e\u9055\u3044<\/li><li>\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e73\u5766\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3001\u4e0a\u5507\u304c\u8584\u3044<\/li><li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u9055\u3044\u3001\u5c0f\u3055\u3081\u306e\u984e<\/li><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/h3>\n\n\n\n<p>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09\u306e\u7279\u6027\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u843d\u3061\u7740\u304d\u306b\u304f\u3044\u3068\u3044\u3063\u305f\u69d8\u5b50\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002\u4e0d\u5b89\u306e\u5f37\u3055\u3084\u7761\u7720\u306e\u554f\u984c\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5408\u4f75\u3059\u308b\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/h3>\n\n\n\n<p>\u91cd\u8907\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u3001\u4f53\u306e\u3064\u304f\u308a\u306b\u9055\u3044\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30c1\u30a7\u30c3\u30af\u3067\u3001\u65e9\u3081\u306b\u6c17\u3065\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u3066\u3093\u304b\u3093\uff0819p13\u306b\u306f\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\uff09<\/li><li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u307e\u308c\uff09<\/li><li>\u6307\u304c\u7d30\u9577\u3044\u3001\u95a2\u7bc0\u304c\u3088\u304f\u53cd\u308b\u3001\u5185\u53cd\u8db3\u306a\u3069\u306e\u624b\u8db3\u306e\u9055\u3044<\/li><li>\u6c34\u814e\u75c7\u306a\u3069\u306e\u814e\u30fb\u6ccc\u5c3f\u5668\u306e\u9055\u3044<\/li><\/ul>\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\/gene\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u51fa\u751f\u524d\u8a3a\u65ad\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0\uff08\u306a\u305c\u8d77\u3053\u308b\u306e\u304b\uff09<\/h2>\n\n\n\n<p><strong>\u539f\u56e0\u306f19\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0819p13\uff09\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3066\u30b3\u30d4\u30fc\u6570\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u3001\u5897\u3048\u305f\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306f\u305f\u3089\u304f\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u300d\u306b\u3088\u3063\u3066\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u3068\u306f<\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306f\u901a\u5e382\u672c\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3067\u30d0\u30e9\u30f3\u30b9\u3088\u304f\u306f\u305f\u3089\u3044\u3066\u3044\u307e\u3059\u3002<strong>\u91cd\u8907\u306b\u3088\u3063\u30663\u672c\u306b\u306a\u308b\u3068\u3001\u305d\u306e\u907a\u4f1d\u5b50\u304b\u3089\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>19p13\u306f\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u904e\u5270\u306b\u306a\u3063\u305f\u907a\u4f1d\u5b50\u3069\u3046\u3057\u304c\u5f71\u97ff\u3057\u5408\u3044\u3001\u8907\u96d1\u306a\u75c7\u72b6\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u6ce8\u76ee\u3055\u308c\u308b\u907a\u4f1d\u5b50<\/h3>\n\n\n\n<p>\u91cd\u8907\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u3046\u3061\u3001\u7279\u306b\u6ce8\u76ee\u3055\u308c\u308b\u3082\u306e\u3092\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li><em>NFIX<\/em>\uff0819p13.13\uff09\uff1a\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff08\u904e\u6210\u9577\u30fb\u77e5\u7684\u969c\u5bb3\uff09\u3092\u8d77\u3053\u3057\u307e\u3059\u3002\u9006\u306b\u91cd\u8907\u3057\u305f\u5834\u5408\u3082\u3001\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li><li><em>CACNA1A<\/em>\uff0819p13.13\uff09\uff1a\u30ab\u30eb\u30b7\u30a6\u30e0\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3001\u91cf\u304c\u5909\u308f\u308b\u3068\u795e\u7d4c\u306e\u8208\u596e\u6027\u304c\u5909\u5316\u3057\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30ea\u30b9\u30af\u306b\u95a2\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li><li><em>SMARCA4<\/em>\uff0819p13.2\uff09\uff1a\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/coffin-siris-syndrome-1-css1\/\">\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4<\/a>\u306e\u539f\u56e0\u3068\u306a\u308a\u3001\u91cd\u8907\u3082\u767a\u9054\u306e\u9045\u308c\u306b\u95a2\u308f\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08de novo\u3068\u5bb6\u65cf\u6027\uff09<\/h3>\n\n\n\n<p><strong>\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u3054\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u751f\u3058\u305f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u75c7\u72b6\u304c\u8efd\u304f\u6c17\u3065\u304b\u308c\u3066\u3044\u306a\u3044\u5c0f\u3055\u306a\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u304a\u5b50\u3055\u3093\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8a3a\u65ad\u65b9\u6cd5<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-2.jpg\" alt=\"\u67d3\u8272\u4f53\u3068DNA\u3092\u866b\u773c\u93e1\u3067\u8abf\u3079\u308b\u691c\u67fb\u306e\u30a4\u30e1\u30fc\u30b8\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17837\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-2-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u5916\u898b\u306e\u7279\u5fb4\u3060\u3051\u3067\u306f\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306719p13\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u306e\u5897\u52a0\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u57fa\u672c\u306b\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u308f\u304b\u308b\u3053\u3068<\/th><\/tr><\/thead><tbody><tr><td>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/td><td>\u91cd\u8907\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u308b\u3001\u73fe\u5728\u306e\u6a19\u6e96\u7684\u306a\u691c\u67fb<\/td><\/tr><tr><td>FISH\u6cd5<\/td><td>\u7279\u5b9a\u306e\u9818\u57df\uff08\u4f8b\uff1a19p13.3\u306a\u3069\uff09\u3092\u306d\u3089\u3063\u3066\u91cd\u8907\u306e\u6709\u7121\u3092\u78ba\u8a8d<\/td><\/tr><tr><td>\u8133MRI\u306a\u3069\u306e\u753b\u50cf\u691c\u67fb<\/td><td>\u8133\u306e\u69cb\u9020\u306e\u9055\u3044\u3084\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u691c\u67fb\u3067\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u305d\u306e\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304b\u3089\u3001\u60f3\u5b9a\u3055\u308c\u308b\u75c7\u72b6\u3084\u5fc5\u8981\u306a\u30d5\u30a9\u30ed\u30fc\u3092\u4e00\u7dd2\u306b\u8003\u3048\u3066\u3044\u304d\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u8ffd\u52a0\u3059\u308b\u304b\u3069\u3046\u304b\u3082\u3001\u3053\u306e\u6bb5\u968e\u3067\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u30fb\u7642\u80b2\u3068\u30b5\u30dd\u30fc\u30c8<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-3.jpg\" alt=\"\u7a4d\u307f\u6728\u904a\u3073\u3092\u901a\u3058\u3066\u5b50\u3069\u3082\u306e\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17838\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/16804-h2-3-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u3092\u53d6\u308a\u9664\u304f\u6839\u672c\u7684\u306a\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff09\u3068\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u533b\u7642\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u3092\u3057\u3063\u304b\u308a\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\uff09<\/h3>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u304c\u6c17\u306b\u306a\u3063\u305f\u6642\u70b9\u304b\u3089\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u7642\u80b2\u3092\u59cb\u3081\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u8077\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u3067\u304d\u305f\u300d\u3092\u5897\u3084\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a\u4f53\u5e79\u3092\u80b2\u3066\u3001\u5ea7\u308b\u30fb\u6b69\u304f\u306a\u3069\u306e\u904b\u52d5\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li><li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a\u624b\u5148\u306e\u52d5\u304d\u3084\u3001\u98df\u4e8b\u30fb\u7740\u66ff\u3048\u3068\u3044\u3063\u305f\u751f\u6d3b\u52d5\u4f5c\u306e\u81ea\u7acb\u3092\u652f\u3048\u307e\u3059\u3002<\/li><li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a\u8a00\u8449\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3001\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3082\u4f7f\u3044\u306a\u304c\u3089\u4f38\u3070\u3057\u307e\u3059\u3002<\/li><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u533b\u5b66\u7684\u306a\u7ba1\u7406<\/h3>\n\n\n\n<p>\u5408\u4f75\u3057\u3084\u3059\u3044\u75c7\u72b6\u3092\u3001\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308c\u3070\u3001\u65e9\u3081\u306b\u5c02\u9580\u79d1\u306b\u3064\u306a\u304e\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u3066\u3093\u304b\u3093\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li><li>\u8eab\u4f53\u8a08\u6e2c\u3067\u6210\u9577\u3084\u982d\u56f2\u306e\u63a8\u79fb\u3092\u78ba\u8a8d\u3057\u3001\u6b6f\u79d1\u30fb\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u3082\u5b9a\u671f\u7684\u306b\u53d7\u8a3a\u3057\u307e\u3059\u3002<\/li><li>\u6442\u98df\u3084\u4f53\u91cd\u5897\u52a0\u306b\u4e0d\u5b89\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6804\u990a\u6307\u5c0e\u3084\u98df\u4e8b\u5f62\u614b\u306e\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li><\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u5fc3\u7406\u30fb\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8<\/h3>\n\n\n\n<p>ASD\u3084ADHD\u306e\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u523a\u6fc0\u306e\u5c11\u306a\u3044\u74b0\u5883\u3065\u304f\u308a\u3084\u3001\u898b\u901a\u3057\u306e\u6301\u3061\u3084\u3059\u3044\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u63d0\u793a\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u4e0d\u5b89\u3084\u7761\u7720\u306e\u554f\u984c\u3067\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u3068\u304d\u306f\u3001\u533b\u5e2b\u3068\u76f8\u8ac7\u306e\u3046\u3048\u3067\u85ac\u306b\u3088\u308b\u652f\u63f4\u3082\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u304c\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u307e\u305a\u304a\u4f1d\u3048\u3057\u3066\u3044\u308b\u306e\u306f\u3001\u691c\u67fb\u3067\u300c\u5206\u304b\u308b\u3053\u3068\u300d\u3068\u300c\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u300d\u3092\u5148\u306b\u6574\u7406\u3059\u308b\u5927\u5207\u3055\u3067\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u304c\u5fc3\u914d\u306a\u5834\u5408\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u3092\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3067\u304d\u307e\u3059\u3002<strong>\u3054\u4e21\u89aa\u306e\u691c\u67fb\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u306b1%\u4ee5\u4e0b\u3068\u8aac\u660e\u3055\u308c\u307e\u3059<\/strong>\uff08\u3054\u304f\u307e\u308c\u306b\u6027\u817a\u30e2\u30b6\u30a4\u30af\u306e\u53ef\u80fd\u6027\u306f\u6b8b\u308a\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">19p13\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u591a\u304f\u306f\u5076\u7136\u306b\u751f\u3058\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de 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class=\"wp-block-heading\">\u307e\u3068\u3081<\/h2>\n\n\n\n<p><strong>19p13\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u305f19\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u3084\u6210\u9577\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u591a\u5f69\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u5168\u304f\u7570\u306a\u308a\u3001\u300c\u3053\u306e\u75c5\u6c17\u306a\u3089\u5fc5\u305a\u3053\u3046\u306a\u308b\u300d\u3068\u3044\u3046\u6c7a\u307e\u3063\u305f\u578b\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u4ed6\u306e\u304a\u5b50\u3055\u3093\u3068\u6bd4\u3079\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u4eca\u306e\u6210\u9577\u300d\u306b\u76ee\u3092\u5411\u3051\u308b\u3053\u3068\u3067\u3059\u3002\u65e9\u671f\u304b\u3089\u7642\u80b2\u3092\u884c\u3044\u3001\u5f97\u610f\u3092\u4f38\u3070\u3057\u3001\u82e6\u624b\u3092\u652f\u3048\u308b\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u3089\u3057\u3044\u30da\u30fc\u30b9\u3067\u53ef\u80fd\u6027\u3092\u5e83\u3052\u3066\u3044\u304d\u307e\u3059\u3002\u533b\u7642\u3068\u798f\u7949\u306e\u30c1\u30fc\u30e0\u3068\u9023\u643a\u3057\u306a\u304c\u3089\u3001\u9577\u3044\u76ee\u3067\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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\/gene\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u51fa\u751f\u524d\u8a3a\u65ad\u3092\u898b\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\"><li>MedlinePlus Genetics\u300cChromosome 19\u300d\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09\uff1a<a href=\"https:\/\/medlineplus.gov\/genetics\/chromosome\/19\/\" target=\"_blank\" rel=\"noopener\">https:\/\/medlineplus.gov\/genetics\/chromosome\/19\/<\/a><\/li><li>Unique \u2013 Rare Chromosome Disorder Support Group\u300cDisorder guides\uff0819p13 microdeletions\uff0fMalan syndrome(NFIX)\uff0fCACNA1A-related disorders\u306a\u3069\uff09\u300d\uff1a<a href=\"https:\/\/www.rarechromo.org\/disorder-guides\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.rarechromo.org\/disorder-guides\/<\/a><\/li><li>DECIPHER Genomics\uff08\u30b2\u30ce\u30e0\u5909\u7570\u3068\u8868\u73fe\u578b\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\uff1a<a href=\"https:\/\/www.deciphergenomics.org\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.deciphergenomics.org\/<\/a><\/li><li>ClinGen Dosage Sensitivity Map\uff08\u907a\u4f1d\u5b50\u91cf\u611f\u53d7\u6027\u306e\u8a55\u4fa1\uff09\uff1a<a href=\"https:\/\/dosage.clinicalgenome.org\/\" target=\"_blank\" rel=\"noopener\">https:\/\/dosage.clinicalgenome.org\/<\/a><\/li><\/ul>\n\n\n\n<script 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