{"id":16954,"date":"2026-01-21T02:59:41","date_gmt":"2026-01-21T02:59:41","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16954"},"modified":"2026-01-22T08:46:10","modified_gmt":"2026-01-22T08:46:10","slug":"2p15-p16-1-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2p15-p16-1-deletion-syndrome\/","title":{"rendered":"2p15-p16.1 deletion 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>2p15-p16.1\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2p15-p16.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff082p15-p16.1 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>2p15-p16.1\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 2p15-p16.1\uff09<\/li>\n\n\n\n<li>\u67d3\u8272\u4f532p15-16.1\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aBCL11A\u95a2\u9023\u77e5\u7684\u969c\u5bb3\uff08BCL11A-related intellectual disability\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3067\u3042\u308b<em>BCL11A<\/em>\u306e\u5909\u7570\u3067\u3082\u985e\u4f3c\u306e\u75c7\u72b6\uff08Dias-Logan\u75c7\u5019\u7fa4\uff09\u3092\u5448\u3059\u308b\u305f\u3081\u3001\u9451\u5225\u3084\u95a2\u9023\u75be\u60a3\u3068\u3057\u3066\u6319\u3052\u3089\u308c\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>2\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0915\u304b\u308916.1\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c15\u300d\u304b\u3089\u300c16.1\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>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>2007\u5e74\u306bRajcan-Separovic\u3089\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306e\u6b20\u5931\u7bc4\u56f2\u304c\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\uff08\u7d04200kb\u301c6Mb\u7a0b\u5ea6\uff09\u3002\u3057\u304b\u3057\u3001\u5171\u901a\u3059\u308b\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff08\u8cac\u4efb\u9818\u57df\uff09\u300d\u304c\u7279\u5b9a\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>BCL11A (B-Cell CLL\/Lymphoma 11A):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u767a\u751f\u3084\u30ea\u30f3\u30d1\u7403\u306e\u5206\u5316\u306b\u95a2\u308f\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u306f\u3001<strong>\u300c\u5c0f\u982d\u75c7\u300d<\/strong>\u3001<strong>\u300c\u77e5\u7684\u969c\u5bb3\u300d<\/strong>\u3001<strong>\u300c\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u300d<\/strong>\u3001\u304a\u3088\u3073**\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d**\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u306e\u4e3b\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u80ce\u5150\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff08HbF\uff09\u304b\u3089\u6210\u4eba\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff08HbA\uff09\u3078\u306e\u30b9\u30a4\u30c3\u30c1\u30f3\u30b0\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\uff08\u305f\u3060\u3057\u3001\u672c\u75c7\u5019\u7fa4\u3067\u91cd\u7be4\u306a\u8ca7\u8840\u304c\u4e3b\u8a34\u3068\u306a\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>REL (REL Proto-Oncogene, NF-KB Subunit):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u306e\u6210\u9577\u3084\u751f\u5b58\u306b\u95a2\u308f\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\uff08NF-\u03baB\u7d4c\u8def\uff09\u306e\u6210\u5206\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001**\u300c\u6210\u9577\u969c\u5bb3\u300d**\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>XPO1 (Exportin 1) \/ USP34 \/ PUS10:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3082\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8907\u5408\u7684\u306b\u4f5c\u7528\u3057\u3066\u75c7\u72b6\uff08\u9aa8\u683c\u7570\u5e38\u3084\u9854\u8c8c\u306a\u3069\uff09\u3092\u5f62\u6210\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\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>\u6975\u3081\u3066\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>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u3001\u73fe\u6642\u70b9\u306750\u4f8b\u301c100\u4f8b\u672a\u6e80\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>Orphanet\uff08\u4e16\u754c\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u3067\u306f\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\uff08&lt;1 \/ 1,000,000\uff09\u306e\u767a\u751f\u7387\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u75be\u60a3\u304c\u5b58\u5728\u3057\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u8a3a\u65ad\u6280\u8853\u306e\u58c1:<\/strong> \u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u3053\u306e\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u75be\u60a3\u6982\u5ff5\u306e\u3042\u305f\u3089\u3057\u3055:<\/strong> 2007\u5e74\u306b\u78ba\u7acb\u3055\u308c\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u305d\u308c\u4ee5\u524d\u306b\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u8a3a\u65ad\u3055\u308c\u305f\u6210\u4eba\u60a3\u8005\u3055\u3093\u304c\u591a\u6570\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\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>2p15-p16.1 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u795e\u7d4c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u982d\u90e8\u30fb\u9854\u8c8c\u300d\u300c\u6210\u9577\u969c\u5bb3\u300d\u300c\u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7570\u5e38\u300d**\u306e4\u3064\u304c\u5927\u304d\u306a\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u982d\u306e\u5f62\u3084\u76ee\u306e\u7279\u5fb4\u306f\u3001\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u3068\u306a\u308b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u982d\u90e8\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306b\u306f\u3001\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3084\u982d\u306e\u5f62\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\uff08\u7d0495%\u4ee5\u4e0a\uff09\u306b\u898b\u3089\u308c\u308b\u6700\u3082\u4e00\u822c\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002\u51fa\u751f\u6642\u304b\u3089\u982d\u56f2\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u982d\u56f2\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u84cb\u306e\u5f62\u72b6\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>**\u300c\u7bb1\u578b\u306e\u982d\uff08Boxy head shape\uff09\u300d**\u3068\u8868\u73fe\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\uff09\u304c\u72ed\u304f\u3001\u5074\u982d\u90e8\uff08\u3053\u3081\u304b\u307f\uff09\u3082\u72ed\u307e\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u56db\u89d2\u5f35\u3063\u305f\u3088\u3046\u306a\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\uff08Bitemporal narrowing\uff09\u3002<\/li>\n\n\n\n<li>\u5f8c\u982d\u90e8\u304c\u5e73\u5766\uff08Flat occiput\uff09\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u76ee\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u9593\u958b\u96e2<\/strong>\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff1aTelecanthus\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u72ed\u5c0f<\/strong>\uff08\u76ee\u304c\u7d30\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782<\/strong>\uff08\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff1aPtosis\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5185\u773c\u89d2\u8d05\u76ae<\/strong>\uff08\u76ee\u982d\u306e\u76ae\u819a\u306e\u88ab\u3055\u308a\uff09\u3002<\/li>\n\n\n\n<li>\u659c\u8996\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b\u30fb\u53e3\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6839\u90e8\u304c\u9ad8\u304f\u5e83\u3044\u3002\u9f3b\u5148\u304c\u3075\u3063\u304f\u3089\u3057\u3066\u3044\u308b\uff08Bulbous nasal tip\uff09\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u304f\u3001\u6ed1\u3089\u304b\u3002<\/li>\n\n\n\n<li>\u4e0a\u5507\u304c\u8584\u3044\u3001\u4e0b\u5507\u304c\u53cd\u308a\u8fd4\u3063\u3066\u3044\u308b\uff08Everted lower lip\uff09\u3002<\/li>\n\n\n\n<li>\u9ad8\u53e3\u84cb\uff08\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\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>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002\u767a\u8a9e\u306e\u7372\u5f97\u304c\u9045\u304f\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u8ab2\u984c\u3092\u6301\u3064\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u7406\u89e3\u529b\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\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<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u306e\u7279\u5fb4\uff08\u793e\u4f1a\u6027\u306e\u5f31\u3055\u3001\u5e38\u540c\u884c\u52d5\uff09\u3001\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u4e0d\u5b89\u969c\u5bb3\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\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>3. \u8996\u899a\u5668\u30fb\u795e\u7d4c\u7cfb\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\uff08Optic nerve hypoplasia\uff09\uff1a\u91cd\u8981<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u795e\u7d4c\u304c\u5341\u5206\u306b\u767a\u9054\u3057\u306a\u3044\u72b6\u614b\u3067\u3001\u8996\u529b\u4f4e\u4e0b\u3084\u8996\u91ce\u7570\u5e38\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6bd4\u8f03\u7684\u7279\u7570\u7684\u306a\u6240\u898b\u3067\u3042\u308a\u3001\u773c\u79d1\u7684\u306a\u7cbe\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u76ae\u8cea\u8996\u899a\u969c\u5bb3\uff08CVI\uff09:<\/strong> \u8133\u306e\u51e6\u7406\u306e\u554f\u984c\u306b\u3088\u308b\u8996\u899a\u969c\u5bb3\u3002<\/li>\n\n\n\n<li><strong>\u8133\u69cb\u9020\u7570\u5e38:<\/strong> MRI\u691c\u67fb\u3067\u3001\u8133\u6881\u306e\u5f62\u6210\u7570\u5e38\u3084\u3001\u5c0f\u8133\u306e\u7570\u5e38\u3001\u76ae\u8cea\u7570\u5f62\u6210\u306a\u3069\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6210\u9577\u30fb\u9aa8\u683c\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\uff08SGA\u5150\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3084\u6442\u98df\u969c\u5bb3\u3082\u76f8\u307e\u3063\u3066\u3001\u4f53\u91cd\u30fb\u8eab\u9577\u3068\u3082\u306b\u5897\u3048\u306b\u304f\u304f\u3001<strong>\u4f4e\u8eab\u9577<\/strong>\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u56db\u80a2\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong> \u30ab\u30f3\u30d7\u30c8\u30c0\u30af\u30c6\u30a3\u30ea\u30fc\uff08\u6307\u304c\u66f2\u304c\u3063\u305f\u307e\u307e\u4f38\u3073\u306a\u3044\uff09\u3001\u6307\u304c\u5148\u7d30\u308a\u3057\u3066\u3044\u308b\uff08Tapering fingers\uff09\u3001\u7b2c4\u30fb5\u6307\u306e\u77ed\u7e2e\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u7570\u5e38:<\/strong> \u5408\u6307\u75c7\uff08\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff09\u3001\u7b2c2-3\u8dbe\u306e\u7652\u5408\u3001\u5185\u53cd\u8db3\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u3001\u591a\u56a2\u80de\u814e\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong> \u80c3\u98df\u9053\u9006\u6d41\u75c7\u3001\u4fbf\u79d8\u3001\u56a5\u4e0b\u56f0\u96e3\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff082p15-p16.1\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. BCL11A\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u539f\u56e0\u306e\u4e2d\u5fc3\u306f\u3001BCL11A\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3053\u3068\u306b\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>BCL11A\u306f\u3001\u8133\u306e\u5927\u8133\u76ae\u8cea\u306e\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u79fb\u52d5\u3057\u3001\u6b63\u3057\u3044\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u4f5c\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u5bb9\u7a4d\u304c\u5897\u3048\u305a\uff08\u5c0f\u982d\u75c7\uff09\u3001\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u4e0d\u5168\uff08\u77e5\u7684\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\uff09\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001REL\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u7d30\u80de\u306e\u751f\u5b58\u30b7\u30b0\u30ca\u30eb\u3092\u5f31\u3081\u3001\u5168\u4f53\u7684\u306a\u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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>2p15-p16.1\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u307b\u307c\u5168\u4f8b<\/strong>\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\u304c\u4f5c\u3089\u308c\u308b\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>\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u306a\u3069\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u6975\u3081\u3066\u7a00\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306f\u7406\u8ad6\u4e0a\u3042\u308a\u5f97\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\u306b\u304a\u3044\u3066\u306f\u975e\u5e38\u306b\u7a00\u3067\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>\u300c\u5c0f\u982d\u75c7\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e3\u3064\u304c\u63c3\u3063\u305f\u5834\u5408\u306b\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u9808\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>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>2p15-p16.1\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>BCL11A<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001CMA\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\u306e\u539f\u56e0\u7cbe\u67fb\u3084\u3001\u8133\u6881\u6b20\u640d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7cbe\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u773c\u5e95\u691c\u67fb\u306a\u3069\u304c\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\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u7642\u80b2\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u65e9\u671f\u304b\u3089\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u30fb\u56a5\u4e0b\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3084\u56a5\u4e0b\u56f0\u96e3\u304c\u3042\u308b\u5834\u5408\u3001\u8aa4\u56a5\u3092\u9632\u304e\u3001\u9069\u5207\u306a\u6804\u990a\u3092\u6442\u53d6\u3059\u308b\u305f\u3081\u306e\u6307\u5c0e\u3084\u3001\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\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\u8a9e\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u3001AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u5c0e\u5165\u3092\u691c\u8a0e\u3057\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\u3084\u81ea\u9589\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u533b\u5b66\u7684\u7ba1\u7406\u30fb\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3084\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u306b\u5bfe\u3057\u3001\u773c\u93e1\u88c5\u7528\u3084\u8a13\u7df4\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u8996\u899a\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u3001\u5b9a\u671f\u691c\u8a3a\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u88c5\u5177\u7642\u6cd5\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u884c\u3044\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>\u6210\u9577\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u6804\u990a\u72b6\u614b\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\u3002\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u3001\u5185\u5206\u6ccc\u7684\u306a\u8a55\u4fa1\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u814e\u30fb\u6ccc\u5c3f\u5668\u7cfb\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3078\u306e\u5bfe\u5fdc\u306a\u3069\u3001\u5168\u8eab\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u3084\u5b64\u7acb\u611f\u3092\u611f\u3058\u3084\u3059\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\u75be\u60a3\u306e\u7279\u6027\u3084\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7\uff08\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306a\u3069\uff09\u3082\u53ef\u80fd\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>2p15-p16.1 deletion syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u982d\u304c\u5c0f\u3055\u3044\u300d\u300c\u304a\u3067\u3053\u304c\u72ed\u3044\u300d\u300c\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3084\u3001\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f2007\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u3070\u304b\u308a\u306e\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308a\u3001\u307e\u3060\u4e16\u754c\u3067\u3082\u5831\u544a\u6570\u306f\u591a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u65ad\u304c\u3064\u304f\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u65e5\u672c\u8a9e\u306e\u60c5\u5831\u304c\u898b\u3064\u304b\u3089\u305a\u306b\u4e0d\u5b89\u3092\u611f\u3058\u305f\u308a\u3055\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u539f\u56e0\u907a\u4f1d\u5b50\uff08BCL11A\u306a\u3069\uff09\u306e\u7814\u7a76\u304c\u9032\u3080\u306b\u3064\u308c\u3001\u3053\u306e\u75c5\u6c17\u306e\u672c\u8cea\u304c\u300c\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u5909\u5316\u300d\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u7279\u52b9\u85ac\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u75c7\u72b6\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u529b\u306e\u554f\u984c\u306b\u306f\u773c\u93e1\u3092\u3001\u8a00\u8449\u306e\u9045\u308c\u306b\u306f\u7642\u80b2\u3092\u3001\u4f53\u306e\u786c\u3055\u306b\u306f\u30ea\u30cf\u30d3\u30ea\u3092\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u6642\u3005\u306e\u304a\u5b50\u3055\u3093\u306e\u56f0\u308a\u3054\u3068\u306b\u5408\u308f\u305b\u3066\u3001\u533b\u7642\u30fb\u798f\u7949\u30fb\u6559\u80b2\u304c\u9023\u643a\u3057\u3066\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u3089\u3057\u3044\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u5c02\u9580\u5bb6\u3068\u30bf\u30c3\u30b0\u3092\u7d44\u307f\u3001\u9577\u3044\u76ee\u3067\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\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>Rajcan-Separovic, E., et al.<\/strong> (2007). <em>Identification of a microdeletion at 2p15-16.1 containing the BCL11A gene in a patient with mental retardation and dysmorphic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u5831\u544a\u3057\u3001\u65b0\u305f\u306a\u81e8\u5e8a\u5358\u4f4d\u3068\u3057\u3066\u78ba\u7acb\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002BCL11A\u907a\u4f1d\u5b50\u306e\u91cd\u8981\u6027\u3092\u6307\u6458\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Chabchoub, E., et al.<\/strong> (2008). <em>The facial dysmorphy in the 2p15p16.1 microdeletion syndrome typified: Report of two new patients.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u305f\u306a\u75c7\u4f8b\u5831\u544a\u3092\u901a\u3058\u3066\u3001\u300c\u7bb1\u578b\u306e\u982d\u84cb\u300d\u300c\u773c\u9593\u958b\u96e2\u300d\u300c\u4e0b\u5782\u3057\u305f\u307e\u3076\u305f\u300d\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u8a73\u7d30\u306b\u5b9a\u7fa9\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Piccione, M., et al.<\/strong> (2012). <em>2p15-16.1 microdeletion syndrome: molecular characterization and clinical report of two new patients.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2\u540d\u306e\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\u3068\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u3092\u5831\u544a\u3002\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3084\u814e\u7570\u5e38\u306a\u3069\u306e\u5408\u4f75\u75c7\u306b\u3064\u3044\u3066\u8a00\u53ca\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hancarova, M., et al.<\/strong> (2013). <em>A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ13305 in the 2p15-p16.1 microdeletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6700\u5c0f\u6b20\u5931\u9818\u57df\u306e\u89e3\u6790\u304b\u3089\u3001\u5404\u907a\u4f1d\u5b50\uff08\u7279\u306bBCL11A\u3068REL\uff09\u304c\u3069\u306e\u75c7\u72b6\uff08\u795e\u7d4c\u767a\u9054\u3001\u6210\u9577\u306a\u3069\uff09\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u304b\u3092\u8003\u5bdf\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2p15-p16.1 microdeletion syndrome<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3001\u767a\u9054\u306e\u7d4c\u904e\u3001\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5305\u62ec\u7684\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>BCL11A<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bBCL11A\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-16954","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\/16954","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\/16954\/revisions"}],"predecessor-version":[{"id":17606,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16954\/revisions\/17606"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16954"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}