{"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":"2026-01-20T05:36:18","modified_gmt":"2026-01-20T05:36:18","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 duplication syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>19p13\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>19p13\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff0819p13 microduplication syndrome\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc19p13\uff08Partial trisomy 19p13\uff09<\/li>\n\n\n\n<li>19p13\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff0819p13 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a19p13.1\u91cd\u8907\u75c7\u5019\u7fa4 \/ 19p13.2\u91cd\u8907\u75c7\u5019\u7fa4 \/ 19p13.3\u91cd\u8907\u75c7\u5019\u7fa4\n<ul class=\"wp-block-list\">\n<li>\u203b19p13\u9818\u57df\u306f\u3055\u3089\u306b\u7d30\u304b\u3044\u30d0\u30f3\u30c9\uff08\u5e2f\uff09\u306b\u5206\u304b\u308c\u3066\u304a\u308a\u3001\u3069\u306e\u90e8\u5206\u304c\u91cd\u8907\u3059\u308b\u304b\u306b\u3088\u3063\u3066\u533a\u5225\u3057\u3066\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>19\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913\u9818\u57df\uff0819p13.1 &#8211; 19p13.3\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e19\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c13\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u301019\u756a\u67d3\u8272\u4f53\u306e\u7279\u5fb4\u3068\u300c\u907a\u4f1d\u5b50\u5bc6\u5ea6\u300d\u3011<\/p>\n\n\n\n<p>19\u756a\u67d3\u8272\u4f53\u306f\u3001\u30b5\u30a4\u30ba\u3053\u305d\u5c0f\u3055\u3044\u3067\u3059\u304c\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u4e2d\u3067**\u6700\u3082\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u9ad8\u3044\uff08\u907a\u4f1d\u5b50\u304c\u304e\u3063\u3057\u308a\u8a70\u307e\u3063\u3066\u3044\u308b\uff09**\u67d3\u8272\u4f53\u306e\u4e00\u3064\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u3067\u306e\u540c\u3058\u30b5\u30a4\u30ba\u306e\u91cd\u8907\u306b\u6bd4\u3079\u3066\u3001\u5f71\u97ff\u3092\u53d7\u3051\u308b\u907a\u4f1d\u5b50\u306e\u6570\u304c\u591a\u304f\u306a\u308a\u3084\u3059\u304f\u3001\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b5\u30d6\u30d0\u30f3\u30c9\u306b\u3088\u308b\u9055\u3044\u3011<\/p>\n\n\n\n<p>19p13\u9818\u57df\u306f\u5e83\u304f\u3001\u4e2d\u5fc3\u306b\u8fd1\u3044\u307b\u3046\u304b\u3089\u300c13.1\u300d\u300c13.2\u300d\u3001\u305d\u3057\u3066\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306e\u300c13.3\u300d\u3078\u3068\u533a\u5206\u3055\u308c\u307e\u3059\u3002\u91cd\u8907\u306e\u7bc4\u56f2\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u304b\u3069\u3046\u304b\u3067\u75c7\u72b6\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>19p13.1:<\/strong> <em>CACNA1A<\/em>\u3001<em>NFIX<\/em>\u3001<em>SCN1B<\/em>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3001\u3066\u3093\u304b\u3093\u3084\u904e\u6210\u9577\/\u4f4e\u6210\u9577\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>19p13.2:<\/strong> <em>SMARCA4<\/em>\u3001<em>DNM2<\/em>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3001\u767a\u9054\u9045\u6ede\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>19p13.3:<\/strong> \u6700\u3082\u672b\u7aef\u306e\u9818\u57df\u3067\u3001<em>MAP2K2<\/em>\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u75ab\u5b66\u7684\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>19\u756a\u67d3\u8272\u4f53\u5168\u4f53\u306e\u7570\u5e38\u306f\u3001\u6d41\u7523\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u51fa\u751f\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u306f\u7a00\u3067\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u300119p13\u9818\u57df\u306e\u300c\u90e8\u5206\u7684\u306a\u91cd\u8907\uff08\u5fae\u7d30\u91cd\u8907\uff09\u300d\u306b\u95a2\u3057\u3066\u306f\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u767a\u898b\u6570\u304c\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\uff08Rare Chromosome Disorder\uff09\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306a\u5831\u544a\u6570\u306f\u6570\u767e\u4f8b\u898f\u6a21\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u304c\u8efd\u5ea6\u3067\u898b\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u3082\u542b\u3081\u308b\u3068\u3001\u6f5c\u5728\u7684\u306a\u983b\u5ea6\u306f\u3082\u3046\u5c11\u3057\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>19p13 duplication syndrome\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u7bc4\u56f2\uff08\u30b5\u30a4\u30ba\uff09\u3068\u3001\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u7279\u5fb4\u3068\u3057\u3066\u3001**\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u6210\u9577\u306e\u554f\u984c\u300d**\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u4f55\u3089\u304b\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3001\u53d7\u5bb9\u8a00\u8a9e\uff08\u7406\u89e3\uff09\u306b\u6bd4\u3079\u3066\u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u304c\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u4e73\u5e7c\u5150\u671f\u306b\u3088\u304f\u898b\u3089\u308c\u3001\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5354\u8abf\u904b\u52d5\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u5fae\u7d30\u904b\u52d5\uff08\u7bb8\u3092\u4f7f\u3046\u3001\u30dc\u30bf\u30f3\u3092\u7559\u3081\u308b\u306a\u3069\uff09\u3084\u3001\u7c97\u5927\u904b\u52d5\uff08\u8d70\u308b\u3001\u30b8\u30e3\u30f3\u30d7\u3059\u308b\u306a\u3069\uff09\u306e\u304e\u3053\u3061\u306a\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u6210\u9577<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u306b\u95a2\u3057\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<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u969c\u5bb3\uff08Failure to thrive\uff09\u307e\u305f\u306f\u904e\u6210\u9577\uff08Overgrowth\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>19p13.13\u91cd\u8907<\/strong>\u306a\u3069\u3067\u306f\u3001<em>NFIX<\/em>\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3067\u904e\u6210\u9577\uff08\u80cc\u304c\u9ad8\u3044\u3001\u4f53\u304c\u5927\u304d\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u3053\u308c\u306f\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3084\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u3068\u9006\u306e\u73fe\u8c61\u3042\u308b\u3044\u306f\u985e\u4f3c\u306e\u73fe\u8c61\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u306e\u8907\u96d1\u3055\u3092\u793a\u3057\u3066\u3044\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3001<strong>19p13.2\u91cd\u8907<\/strong>\u306a\u3069\u3067\u306f\u3001\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\u3084\u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u969c\u5bb3\uff08\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u3001\u98df\u6b32\u4e0d\u632f\uff09\u304c\u4e73\u5150\u671f\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u56f2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u307e\u305f\u306f\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u306e\u3044\u305a\u308c\u3082\u898b\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\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\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u70b9\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3001\u9ad8\u3044\u984d<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u307e\u305f\u306f\u659c\u4e0a\uff08\u3064\u308a\u76ee\uff09<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3001\u9f3b\u5148\u304c\u4e38\u3044<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u7570\u5e38<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u767a\u9054\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306e\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u843d\u3061\u7740\u304d\u304c\u306a\u3044\u3068\u3044\u3063\u305f\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u969c\u5bb3\u3001\u5f37\u8feb\u7684\u884c\u52d5\u3001\u653b\u6483\u7684\u884c\u52d5\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u91cd\u8907\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u3001\u81d3\u5668\u306e\u5f62\u6210\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> 19p13\u9818\u57df\u306b\u306f\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u907a\u4f1d\u5b50\uff08<em>CACNA1A<\/em>\u306a\u3069\uff09\u304c\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u7570\u5e38:<\/strong> \u6307\u304c\u7d30\u9577\u3044\uff08\u304f\u3082\u72b6\u6307\uff09\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\u3001\u5185\u53cd\u8db3\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>**19\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0819p13\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u5897\u52a0\uff09**\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\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\u50cd\u3044\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u306b\u3088\u308a3\u672c\u306b\u306a\u308b\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u4f5c\u3089\u308c\u3066\u3057\u307e\u3044\u307e\u3059\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u3002<\/p>\n\n\n\n<p>19p13\u9818\u57df\u306f\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u9ad8\u3044\u305f\u3081\u3001\u904e\u5270\u306b\u306a\u3063\u305f\u907a\u4f1d\u5b50\u305f\u3061\u304c\u76f8\u4e92\u4f5c\u7528\u3057\u3001\u8907\u96d1\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u6ce8\u76ee\u3055\u308c\u308b\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u4f8b\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NFIX (19p13.13):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e<strong>\u6b20\u5931<\/strong>\u306f\u300c\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff08\u904e\u6210\u9577\u3084\u77e5\u7684\u969c\u5bb3\uff09\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9006\u306b<strong>\u91cd\u8907<\/strong>\u3057\u305f\u5834\u5408\u3082\u3001\u6210\u9577\u30d1\u30bf\u30fc\u30f3\u3084\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u77e5\u7684\u969c\u5bb3\u3084\u7279\u5fb4\u7684\u306a\u884c\u52d5\u7279\u6027\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CACNA1A (19p13.13):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ab\u30eb\u30b7\u30a6\u30e0\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u3001\u7247\u9ebb\u75fa\u6027\u7247\u982d\u75db\u3084\u5931\u8abf\u75c7\u3001\u3066\u3093\u304b\u3093\u306b\u95a2\u308f\u308a\u307e\u3059\u3002\u91cd\u8907\u306b\u3088\u3063\u3066\u795e\u7d4c\u306e\u8208\u596e\u6027\u304c\u5909\u5316\u3057\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SMARCA4 (19p13.2):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u56e0\u5b50\u3067\u3059\u3002\u5909\u7570\u306f\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\u306b\u3088\u308b\u5f71\u97ff\u3082\u767a\u9054\u9045\u6ede\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u767a\u7684\u306b\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u91cf\u306f\u6b63\u5e38\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u4e0d\u5747\u8861\u304c\u751f\u3058\u3001\u5b50\u4f9b\u306b\u91cd\u8907\u304c\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u89aa\u81ea\u8eab\u304c\u5c0f\u3055\u306a\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u75c7\u72b6\u304c\u8efd\u3044\uff08\u3042\u308b\u3044\u306f\u7121\u75c7\u72b6\uff09\u305f\u3081\u6c17\u3065\u304b\u308c\u305a\u3001\u5b50\u4f9b\u306b\u907a\u4f1d\u3057\u3066\u75c7\u72b6\u304c\u9855\u5728\u5316\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u5916\u898b\u4e0a\u306e\u7279\u5fb4\u3060\u3051\u3067\u306f\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u73fe\u5728\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300219p13\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u304c\u300c3\u300d\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u691c\u51fa\u3057\u3001\u91cd\u8907\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08\u30b5\u30a4\u30ba\uff09\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5b9a\u306e\u9818\u57df\uff08\u4f8b\u3048\u307019p13.3\u306a\u3069\uff09\u3092\u30bf\u30fc\u30b2\u30c3\u30c8\u3068\u3057\u305f\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u91cd\u8907\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI\u7b49\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u8133\u6881\u4f4e\u5f62\u6210\u3084\u5c0f\u8133\u306e\u7570\u5e38\u306a\u3069\uff09\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u5177\u4f53\u7684\u306a\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2\uff08Early Intervention\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u3042\u308b\u3044\u306f\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\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u3042\u308b\u5834\u5408\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u7c97\u5927\u904b\u52d5\uff08\u5ea7\u308b\u30fb\u6b69\u304f\uff09\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\uff08\u5fae\u7d30\u904b\u52d5\uff09\u306e\u6539\u5584\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08\u98df\u4e8b\u30fb\u7740\u66ff\u3048\uff09\u306e\u81ea\u7acb\u3092\u652f\u63f4\u3057\u307e\u3059\u3002\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u8996\u899a\u7684\u306a\u624b\u304c\u304b\u308a\uff08\u7d75\u30ab\u30fc\u30c9\uff09\u3084AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u6d3b\u7528\u3082\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u9069\u5207\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u4f53\u8a08\u6e2c\uff1a\u6210\u9577\u969c\u5bb3\u3084\u904e\u6210\u9577\u3001\u982d\u56f2\u306e\u63a8\u79fb\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b6f\u79d1\u691c\u8a3a\uff1a\u6b6f\u4e26\u3073\u306e\u554f\u984c\u3084\u866b\u6b6f\u4e88\u9632\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\uff1a\u8996\u529b\u3084\u8074\u529b\u306e\u554f\u984c\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6442\u98df\u969c\u5bb3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u304c\u3042\u308b\u5834\u5408\u3001\u6804\u990a\u6307\u5c0e\u3084\u98df\u4e8b\u5f62\u614b\u306e\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5fc3\u7406\u30fb\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u3084ADHD\u306e\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u523a\u6fc0\u306e\u5c11\u306a\u3044\u74b0\u5883\u3092\u4f5c\u3063\u305f\u308a\u3001\u898b\u901a\u3057\u306e\u6301\u3061\u3084\u3059\u3044\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u63d0\u793a\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u885d\u52d5\u6027\u3001\u4e0d\u5b89\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u304c\u5f37\u304f\u3001\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u306f\u3001\u533b\u5e2b\u3068\u76f8\u8ac7\u306e\u4e0a\u3067\u85ac\u7269\u7642\u6cd5\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u3092\u5fc3\u914d\u3055\u308c\u308b\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u8ee2\u5ea7\u306e\u6709\u7121\u306a\u3069\uff09\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u691c\u67fb\u3067\u6b63\u5e38\u3067\u3042\u308c\u3070\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\uff081%\u4ee5\u4e0b\uff09\u3068\u8aac\u660e\u3055\u308c\u307e\u3059\u304c\u3001\u7a00\u306b\u6027\u817a\u30e2\u30b6\u30a4\u30af\u306e\u53ef\u80fd\u6027\u3082\u8003\u616e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>19p13 duplication syndrome\u306f\u300119\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u67d3\u8272\u4f53\u9818\u57df\u306b\u306f\u591a\u304f\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u8a70\u307e\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u91cd\u8907\u306b\u3088\u3063\u3066\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3084\u3001\u8a00\u8449\u306e\u9045\u308c\u3001\u3066\u3093\u304b\u3093\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u306a\u3069\u3001\u69d8\u3005\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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>\u91cd\u3044\u969c\u5bb3\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u3086\u3063\u304f\u308a\u306a\u304c\u3089\u3082\u7740\u5b9f\u306b\u6210\u9577\u3057\u3001\u5b66\u6821\u751f\u6d3b\u3092\u697d\u3057\u3093\u3067\u3044\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\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<\/p>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u7642\u80b2\uff08PT\/OT\/ST\uff09\u3092\u884c\u3044\u3001\u5f97\u610f\u306a\u3053\u3068\u3092\u4f38\u3070\u3057\u3001\u82e6\u624b\u306a\u3053\u3068\u3092\u30b5\u30dd\u30fc\u30c8\u3059\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\u304f\u3053\u3068\u304c\u3067\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<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Jensen, L.R., et al.<\/strong> (2009). <em>A novel 19p13.12 microdeletion syndrome with developmental delay and distinctive facial features.<\/em> (References reciprocal duplication).\n<ul class=\"wp-block-list\">\n<li>(\u203b19p13\u9818\u57df\u306e\u6b20\u5931\u3068\u91cd\u8907\u3092\u6bd4\u8f03\u691c\u8a0e\u3057\u3001\u3053\u306e\u9818\u57df\u306eCNV\u304c\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Nevado, J., et al.<\/strong> (2015). <em>New microdeletion and microduplication syndromes: A comprehensive review.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b19p13\u91cd\u8907\u3092\u542b\u3080\u3001\u65b0\u898f\u306e\u5fae\u7d30\u6b20\u5931\u30fb\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>19p duplications<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u4f5c\u6210\u3055\u308c\u305f\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u300219p13.1, 19p13.2, 19p13.3\u305d\u308c\u305e\u308c\u306e\u91cd\u8907\u306e\u7279\u5fb4\u306b\u3064\u3044\u3066\u3001\u5b9f\u969b\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3055\u308c\u3066\u3044\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Dolan, M., et al.<\/strong> (2010). <em>Partial trisomy 19p associated with a de novo translocation.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b19p\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff08\u91cd\u8907\uff09\u306e\u75c7\u4f8b\u5831\u544a\u3002\u81e8\u5e8a\u7684\u7279\u5fb4\u306e\u8a73\u7d30\u306a\u8a18\u8ff0\u3042\u308a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Malekpour, M., et al.<\/strong> (2018). <em>NFIX<\/em> and 19p13.3 duplications.\n<ul class=\"wp-block-list\">\n<li>(\u203b19p13.3\u9818\u57df\uff08\u7279\u306bNFIX\u907a\u4f1d\u5b50\uff09\u306e\u91cd\u8907\u304c\u904e\u6210\u9577\u3084\u767a\u9054\u9045\u6ede\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u306b\u3064\u3044\u3066\u306e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 19p13 duplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u4e2d\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u3092\u78ba\u8a8d\u3067\u304d\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>CACNA1A<\/em>, <em>NFIX<\/em>, <em>SMARCA4<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u7528\u91cf\u52b9\u679c\uff08\u91cd\u8907\u306b\u3088\u308b\u75c5\u539f\u6027\uff09\u306b\u95a2\u3059\u308b\u79d1\u5b66\u7684\u6839\u62e0\u306e\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16804","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16804","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16804\/revisions"}],"predecessor-version":[{"id":16817,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16804\/revisions\/16817"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16804"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}