{"id":16807,"date":"2026-01-20T05:00:48","date_gmt":"2026-01-20T05:00:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16807"},"modified":"2026-01-20T05:00:48","modified_gmt":"2026-01-20T05:00:48","slug":"19p13-12-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/19p13-12-microdeletion-syndrome\/","title":{"rendered":"19p13.12 microdeletion 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>19p13.12\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>19p13.12\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff08Malan syndrome\uff09\u203b<\/li>\n\n\n\n<li>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa42\u578b\uff08Sotos syndrome 2\uff09\u203b\u6b74\u53f2\u7684\u306a\u540d\u79f0<\/li>\n\n\n\n<li>NFIX\u95a2\u9023\u904e\u6210\u9577\u75c7\u5019\u7fa4\uff08NFIX-related overgrowth syndrome\uff09<\/li>\n\n\n\n<li>19p13.12\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 19p13.12\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u3068\u5206\u985e\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u4e8b\u9805\uff1a<\/p>\n\n\n\n<p>19p13.12\u9818\u57df\u306b\u306f\u3001**NFIX\uff08Nuclear factor I X\uff09\u3068\u3044\u3046\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75c7\u72b6\u306e\u5927\u90e8\u5206\u306f\u3001NFIX\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>NFIX\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u6587\u5b57\u5316\u3051\uff09\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u306f\u300c\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u300d**\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>19p13.12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001NFIX\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5468\u8fba\u306eDNA\u304c\u307e\u3068\u3081\u3066\u6b20\u5931\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u304c\u3001\u81e8\u5e8a\u7684\u306a\u75c7\u72b6\u304c\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u3068\u307b\u307c\u540c\u4e00\u3067\u3042\u308b\u305f\u3081\u3001\u73fe\u5728\u3067\u306f\u5e83\u7fa9\u306e\u300c\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u300d\u306e\u4e00\u90e8\u3001\u3042\u308b\u3044\u306f\u540c\u7fa9\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u67d3\u8272\u4f53\u6b20\u5931\u306b\u3088\u308b\u7279\u5fb4\u3082\u542b\u3081\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\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\uff0913.12\u9818\u57df<\/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\u300c13.12\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50\uff08NFIX\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u6b20\u5931\u9818\u57df\u5185\u3067\u3001\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\uff08\u904e\u6210\u9577\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u9854\u8c8c\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u6c7a\u5b9a\u7684\u306a\u539f\u56e0\u3068\u306a\u3063\u3066\u3044\u308b\u306e\u304c<strong>NFIX\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>NFIX<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u8ee2\u5199\u56e0\u5b50\uff08\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u3092\u4f5c\u308a\u3001\u80ce\u5150\u671f\u306e\u8133\u306e\u767a\u9054\u3084\u9aa8\u683c\u306e\u5f62\u6210\u306b\u304a\u3044\u3066\u3001\u7d30\u80de\u306e\u5897\u6b96\u3068\u5206\u5316\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u5074\u9762\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u70b9\u5909\u7570\u306b\u3088\u308b\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u7570\u306a\u308a\u3001\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f<em>NFIX<\/em>\u4ee5\u5916\u306e\u5468\u8fba\u907a\u4f1d\u5b50\u3082\u540c\u6642\u306b\u5931\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f8b\u3048\u3070\u3001\u8fd1\u508d\u306e\u907a\u4f1d\u5b50\u304c\u5dfb\u304d\u8fbc\u307e\u308c\u308b\u3053\u3068\u3067\u3001\u7d14\u7c8b\u306a\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u306b\u306f\u898b\u3089\u308c\u306a\u3044\u75c7\u72b6\uff08\u7279\u5b9a\u306e\u514d\u75ab\u7cfb\u306e\u554f\u984c\u3084\u4ee3\u8b1d\u7570\u5e38\u306a\u3069\uff09\u304c\u5408\u4f75\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u73fe\u5728\u306e\u3068\u3053\u308d<em>NFIX<\/em>\u4ee5\u5916\u306e\u907a\u4f1d\u5b50\u306b\u3088\u308b\u660e\u78ba\u306a\u8ffd\u52a0\u75c7\u72b6\u306f\u5b8c\u5168\u306b\u306f\u5b9a\u7fa9\u3055\u308c\u3066\u304a\u3089\u305a\u3001<em>NFIX<\/em>\u6b20\u5931\u306e\u5f71\u97ff\u304c\u4e3b\u4f53\u7684\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u975e\u5e38\u306b\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff0819p13.12\u6b20\u5931\u3092\u542b\u3080\uff09\u5168\u4f53\u306e\u5831\u544a\u6570\u306f\u3001\u4e16\u754c\u3067\u6570\u767e\u4f8b\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u304c\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08NSD1\u907a\u4f1d\u5b50\u7570\u5e38\uff09\u300d\u3068\u975e\u5e38\u306b\u3088\u304f\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u304b\u3064\u3066\u306f\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u691c\u67fb\u3092\u3057\u3066\u9670\u6027\u3060\u3063\u305f\u4eba\uff08\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u69d8\u60a3\u8005\uff09\u300d\u3068\u3057\u3066\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u307e\u307e\u904e\u3054\u3055\u308c\u3066\u3044\u305f\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3042\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3084\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8a3a\u65ad\u3055\u308c\u308b\u60a3\u8005\u6570\u306f\u5897\u52a0\u50be\u5411\u306b\u3042\u308a\u3001\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u75be\u60a3\u306e\u4e00\u3064\u3067\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>19p13.12 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u300d\u300c\u77e5\u7684\u969c\u5bb3\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u306e3\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u5171\u901a\u70b9\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8a73\u3057\u304f\u898b\u308b\u3068\u7570\u306a\u308b\u70b9\u3082\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8eab\u4f53\u7684\u6210\u9577\uff08\u904e\u6210\u9577\uff1aOvergrowth\uff09<\/strong><\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u307e\u305f\u306f\u51fa\u751f\u5f8c\u304b\u3089\u306e\u8eab\u4f53\u306e\u5927\u304d\u3055\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u8eab\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u671f\u304b\u3089\u5927\u304d\u3081\u3067\u3042\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u51fa\u751f\u5f8c\u306e\u4e73\u5e7c\u5150\u671f\u301c\u5c0f\u5150\u671f\u306b\u304b\u3051\u3066\u8eab\u9577\u304c\u4f38\u3073\u3001\u6210\u9577\u66f2\u7dda\u306e+2SD\uff08\u6a19\u6e96\u504f\u5dee\uff09\u3092\u8d85\u3048\u308b\u9ad8\u8eab\u9577\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u4eba\u306b\u306a\u3063\u3066\u3082\u5e73\u5747\u3088\u308a\u80cc\u304c\u9ad8\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u307b\u3069\u6975\u7aef\u306a\u5de8\u5927\u5316\u306b\u306f\u306a\u3089\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5927\u304d\u304f\u3001\u304a\u3067\u3053\u304c\u7a81\u51fa\u3057\u305f\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7d30\u8eab\u306e\u4f53\u578b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80cc\u306f\u9ad8\u3044\u3067\u3059\u304c\u3001\u4f53\u3064\u304d\u306f\u7d30\u8eab\uff08Slender\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7b4b\u8089\u91cf\u304c\u5c11\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u304a\u9854\u7acb\u3061\u306b\u306f\u3001\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u7279\u6709\u306e\u5171\u901a\u70b9\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u306e\u5f62\u72b6:<\/strong> \u9762\u9577\uff08Long face\uff09\u3067\u3001\u984e\u304c\u7e26\u306b\u9577\u3044\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u984d:<\/strong> \u984d\u304c\u9ad8\u304f\u3001\u5e83\u3044\uff08High forehead\uff09\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\u50be\u5411\uff09\u3002<\/li>\n\n\n\n<li>\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b\u30fb\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6881\u304c\u4f4e\u3044\u3001\u307e\u305f\u306f\u9f3b\u5148\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li>\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u3078\u306e\u5b57\u53e3\uff09\u3002<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u984e\uff08\u6210\u9577\u3068\u3068\u3082\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\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>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>IQ\u30b9\u30b3\u30a2\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u751f\u6daf\u306b\u308f\u305f\u308b\u652f\u63f4\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u767a\u9054:<\/strong> \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\u3053\u308c\u306f\u5f8c\u8ff0\u3059\u308b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3082\u95a2\u4fc2\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u306b\u6bd4\u3079\u3066\u3001\u767a\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u304d\u306b\u304f\u3044\u3001\u904b\u52d5\u304c\u304e\u3053\u3061\u306a\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8996\u899a\u30fb\u773c\u79d1\u7684\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6bd4\u8f03\u7684\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\u3042\u308a\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u9451\u5225\u70b9\u306e\u4e00\u3064\u306b\u3082\u306a\u308a\u5f97\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u795e\u7d4c\u4e73\u982d\u4f4e\u5f62\u6210:<\/strong> \u8996\u795e\u7d4c\u306e\u767a\u9054\u304c\u60aa\u304f\u3001\u8996\u529b\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u659c\u8996:<\/strong> \u5916\u659c\u8996\u3084\u5185\u659c\u8996\u3002<\/li>\n\n\n\n<li><strong>\u773c\u632f:<\/strong> \u76ee\u306e\u7389\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b\u75c7\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u9752\u8272\u5f37\u819c:<\/strong> \u767d\u76ee\u306e\u90e8\u5206\u304c\u9752\u767d\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u9aa8\u683c\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u304c\u66f2\u304c\u308b\uff09\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u3001\u6210\u9577\u671f\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6f0f\u6597\u80f8\uff08\u80f8\u306e\u4e2d\u592e\u304c\u7aaa\u3080\uff09\u3084\u3001\u9577\u3044\u624b\u8db3\uff08\u304f\u3082\u72b6\u6307\u69d8\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9aa8\u5e74\u9f62\u306e\u4fc3\u9032\uff08\u5b9f\u5e74\u9f62\u3088\u308a\u9aa8\u306e\u6210\u9577\u304c\u9032\u3093\u3067\u3044\u308b\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u307b\u3069\u9855\u8457\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0420\u301c30%\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08\u71b1\u6027\u3051\u3044\u308c\u3093\u3092\u542b\u3080\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\uff08Anxiety\uff09\u3002<\/li>\n\n\n\n<li>\u8074\u899a\u904e\u654f\uff08\u7279\u5b9a\u306e\u97f3\u3092\u6975\u7aef\u306b\u5acc\u304c\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u306e\u3053\u3060\u308f\u308a\u3084\u5bfe\u4eba\u9762\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>19\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0819p13.12\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001NFIX\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. NFIX\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><\/p>\n\n\n\n<p>NFIX\u907a\u4f1d\u5b50\u306f\u3001\u8133\u3084\u7b4b\u8089\u3001\u9aa8\u683c\u306e\u767a\u751f\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u7fa4\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30f3\u30fb\u30aa\u30d5\u3059\u308b\u300c\u30de\u30b9\u30bf\u30fc\u30ec\u30ae\u30e5\u30ec\u30fc\u30bf\u30fc\uff08\u53f8\u4ee4\u5854\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306f\u7236\u7531\u6765\u3068\u6bcd\u7531\u6765\u306e2\u672c\u3042\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u306b\u3088\u3063\u30661\u672c\u306b\u306a\u3063\u3066\u3057\u307e\u3046\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001\u4f5c\u3089\u308c\u308bNFIX\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308a\u3001\u6b63\u5e38\u306a\u767a\u751f\u30d7\u30ed\u30bb\u30b9\u3092\u7dad\u6301\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001\u7d30\u80de\u306e\u5897\u6b96\u304c\u6b62\u307e\u308b\u3079\u304d\u3068\u3053\u308d\u3067\u6b62\u307e\u3089\u305a\uff08\u904e\u6210\u9577\uff09\u3001\u9069\u5207\u306a\u5206\u5316\u304c\u884c\u308f\u308c\u306a\u3044\uff08\u8133\u306e\u5f62\u6210\u4e0d\u5168\uff09\u3068\u3044\u3063\u305f\u4e8b\u614b\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\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>19p13.12\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u4f53\u7d30\u80de\u30e2\u30b6\u30a4\u30af\uff08\u4f53\u306e\u4e00\u90e8\u3060\u3051\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\uff09\u3067\u3042\u3063\u305f\u308a\u3001\u89aa\u81ea\u8eab\u304c\u8efd\u75c7\u306e\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09\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>\u300c\u80cc\u304c\u9ad8\u3044\u300d\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u3068\u3044\u3046\u81e8\u5e8a\u75c7\u72b6\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3084\u30a6\u30a3\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4\u3068\u306e\u533a\u5225\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>19p13.12\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\uff08\u30b3\u30d4\u30fc\u6570\u5909\u5316\uff1aCNV\uff09\u3092\u691c\u51fa\u3059\u308b\u306e\u306b\u6700\u3082\u9069\u3057\u305f\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u306b<em>NFIX<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>NFIX<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u70b9\u5909\u7570\uff08\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff09\u3092\u7591\u3046\u5834\u5408\u3084\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08<em>NSD1<\/em>\uff09\u306a\u3069\u4ed6\u306e\u904e\u6210\u9577\u75c7\u5019\u7fa4\u3068\u307e\u3068\u3081\u3066\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u5834\u5408\u306b\u884c\u308f\u308c\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>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u60a3\u8005\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\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<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u6a5f\u80fd\u306e\u5411\u4e0a\u3084\u6b69\u884c\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u5074\u5f2f\u75c7\u306e\u4e88\u9632\u30fb\u7ba1\u7406\u306e\u89b3\u70b9\u304b\u3089\u3082\u91cd\u8981\u3067\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\u306b\u5bfe\u3057\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u307e\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\u624b\u6bb5\u306e\u7372\u5f97\u3092\u652f\u63f4\u3057\u307e\u3059\u3002\u7406\u89e3\u529b\u306f\u6bd4\u8f03\u7684\u826f\u3044\u305f\u3081\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u8996\u899a\u7684\u652f\u63f4\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u500b\u3005\u306e\u30da\u30fc\u30b9\u3067\u5b66\u3079\u308b\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5b9a\u671f\u7684\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5065\u5eb7\u7ba1\u7406\uff09<\/strong><\/p>\n\n\n\n<p>\u5408\u4f75\u75c7\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u4e88\u5f8c\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u306e\u9032\u884c\u304c\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306b\u810a\u67f1\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u9032\u884c\u3059\u308b\u5834\u5408\u306f\u88c5\u5177\u7642\u6cd5\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3084\u8996\u529b\u306e\u554f\u984c\u304c\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a\u3092\u884c\u3044\u307e\u3059\u3002\u773c\u93e1\u306b\u3088\u308b\u77ef\u6b63\u304c\u5fc5\u8981\u306a\u5834\u5408\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5185\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5faa\u74b0\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u3067\u3059\u304c\u3001\u5927\u52d5\u8108\u62e1\u5f35\u306a\u3069\u306e\u5fc3\u8840\u7ba1\u7cfb\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u5831\u544a\u304c\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6642\u3084\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u7ba1\u7406\u6307\u91dd\u306b\u6e96\u3058\u307e\u3059\uff09\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>\u8074\u899a\u904e\u654f\u30fb\u4e0d\u5b89:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u304d\u306a\u97f3\u3092\u907f\u3051\u308b\uff08\u30a4\u30e4\u30fc\u30de\u30d5\u306e\u4f7f\u7528\uff09\u3001\u898b\u901a\u3057\u306e\u6301\u3066\u308b\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u63d0\u793a\u306a\u3069\u3001\u74b0\u5883\u8abf\u6574\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u672c\u4eba\u306e\u30b9\u30c8\u30ec\u30b9\u3092\u8efd\u6e1b\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>\u672c\u75be\u60a3\u306f\u300c\u904e\u6210\u9577\u300d\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308b\u305f\u3081\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\uff08\u6700\u7d42\u8eab\u9577\u306a\u3069\uff09\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3054\u5bb6\u65cf\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u3001\u6b63\u78ba\u306a\u907a\u4f1d\u5b66\u7684\u60c5\u5831\u3068\u3001\u9577\u671f\u7684\u306a\u4e88\u5f8c\u306b\u3064\u3044\u3066\u306e\u8aac\u660e\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u3068\u306e\u3064\u306a\u304c\u308a\u3082\u3001\u60c5\u5831\u5171\u6709\u3084\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3068\u3057\u3066\u975e\u5e38\u306b\u6709\u52b9\u3067\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>19p13.12 microdeletion syndrome\uff08\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff09\u306f\u300119\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306bNFIX\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306f\u80cc\u304c\u9ad8\u304f\u3001\u30b9\u30e9\u30c3\u3068\u3057\u305f\u4f53\u578b\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u77e5\u7684\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3084\u3001\u7b4b\u529b\u306e\u5f31\u3055\u3068\u3044\u3063\u305f\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306b\u4f3c\u3066\u3044\u308b\u3051\u308c\u3069\u907a\u4f1d\u5b50\u304c\u9055\u3046\u300d\u3068\u8aac\u660e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u3063\u3066\u65b0\u3057\u304f\u5206\u985e\u3055\u308c\u305f\u6982\u5ff5\u3060\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306f\u3001\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u7279\u5b9a\u306e\u97f3\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3068\u7e4a\u7d30\u306a\u4e00\u9762\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u7a4f\u3084\u304b\u3067\u512a\u3057\u3044\u6027\u683c\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u85ac\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5074\u5f2f\u75c7\u306e\u30c1\u30a7\u30c3\u30af\u3084\u773c\u79d1\u691c\u8a3a\u306a\u3069\u306e\u8eab\u4f53\u7684\u30b1\u30a2\u3068\u3001\u305d\u308c\u305e\u308c\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5065\u5eb7\u3092\u5b88\u308a\u306a\u304c\u3089\u8c4a\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u3067\u7814\u7a76\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u3054\u5bb6\u65cf\u3092\u652f\u3048\u308b\u533b\u7642\u30fb\u798f\u7949\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3082\u6574\u3044\u3064\u3064\u3042\u308a\u307e\u3059\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>Malan, V., et al.<\/strong> (2010). <em>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bNFIX\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u30bd\u30c8\u30b9\u69d8\u75c7\u5019\u7fa4\uff08\u5f8c\u306e\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff09\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u521d\u3081\u3066\u660e\u78ba\u306b\u5b9a\u7fa9\u3057\u305f\u3001\u75be\u60a3\u6982\u5ff5\u306e\u57fa\u790e\u3068\u306a\u308b\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Priolo, M., et al.<\/strong> (2012). <em>Further delineation of Malan syndrome.<\/em> Human Mutation.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff0819p13.12\u6b20\u5931\u542b\u3080\uff09\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u9854\u8c8c\u3001\u5408\u4f75\u75c7\u306a\u3069\u3092\u8a73\u7d30\u306b\u5b9a\u7fa9\u3065\u3051\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>NFIX-Related Disorder<\/em>. Initial Posting: May 16, 2019. <em>Authors: Macchiaiolo M, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u304a\u3088\u3073\u30de\u30fc\u30b7\u30e3\u30eb\u30fb\u30b9\u30df\u30b9\u75c7\u5019\u7fa4\u3092\u542b\u3080NFIX\u95a2\u9023\u75be\u60a3\u306e\u5305\u62ec\u7684\u306a\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u6700\u3082\u4fe1\u983c\u6027\u304c\u9ad8\u3044\u60c5\u5831\u6e90\u306e\u4e00\u3064\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Klaassens, M., et al.<\/strong> (2015). <em>Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six patients.<\/em> Human Mutation.\n<ul class=\"wp-block-list\">\n<li>(\u203b19p13.12\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u3068\u70b9\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\u3092\u6bd4\u8f03\u3057\u3001\u4e21\u8005\u304c\u307b\u307c\u540c\u4e00\u306e\u8868\u73fe\u578b\uff08\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff09\u3092\u793a\u3059\u3053\u3068\u3092\u5831\u544a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gurrieri, F., et al.<\/strong> (2018). <em>Clinical and molecular characterization of 19p13.12 microdeletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u5074\u9762\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001NFIX\u4ee5\u5916\u306e\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u306e\u53ef\u80fd\u6027\u3082\u542b\u3081\u3066\u691c\u8a0e\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>NFIX<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(\u203bNFIX\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\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-16807","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\/16807","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16807\/revisions"}],"predecessor-version":[{"id":16809,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16807\/revisions\/16809"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16807"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}