{"id":16958,"date":"2026-01-21T03:03:35","date_gmt":"2026-01-21T03:03:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16958"},"modified":"2026-01-21T03:03:35","modified_gmt":"2026-01-21T03:03:35","slug":"2p15-p16-1-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2p15-p16-1-duplication-syndrome\/","title":{"rendered":"2p15-p16.1 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>2p15-p16.1\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2p15-p16.1\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff082p15-p16.1 microduplication syndrome\uff09<\/li>\n\n\n\n<li>2p15-p16.1\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 2p15-p16.1\uff09<\/li>\n\n\n\n<li>2p15-p16.1\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff082p15-p16.1 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a2p15-p16.1\u6b20\u5931\u75c7\u5019\u7fa4\uff082p15-p16.1 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u3068\u540c\u3058\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3001\u5bfe\uff08\u3064\u3044\uff09\u3068\u306a\u308b\u75be\u60a3\u3067\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\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>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u300c\u93e1\u50cf\u52b9\u679c\uff08Mirror Effect\uff09\u300d\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u300c\u6b20\u5931\u300d\u306f\u3001\u5c0f\u982d\u75c7\u3084\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u300c2p15-p16.1\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u305d\u306e\u9006\u306e\u300c\u91cd\u8907\u300d\u3067\u3042\u308a\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u5bfe\u7167\u7684\u306a\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\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\u904e\u5270\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u304c\u3001\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\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u795e\u7d4c\u767a\u9054\u3084\u3001\u514d\u75ab\u7d30\u80de\uff08B\u7d30\u80de\uff09\u306e\u5206\u5316\u3001\u8d64\u8840\u7403\u306e\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u5909\u63db\uff08\u80ce\u5150\u578b\u304b\u3089\u6210\u4eba\u578b\u3078\uff09\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5834\u5408:<\/strong> \u300c\u5c0f\u982d\u75c7\u300d\u3084\u300c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5834\u5408\uff08\u672c\u75be\u60a3\uff09:<\/strong> \u9006\u306b**\u300c\u5927\u982d\u75c7\uff08\u982d\u304c\u5927\u304d\u3044\uff09\u300d**\u3084\u300c\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d\u3092\u5f15\u304d\u8d77\u3053\u3059\u50be\u5411\u304c\u3042\u308a\u3001\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\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>\u30ea\u30f3\u30d1\u816b\uff08\u8840\u6db2\u306e\u304c\u3093\uff09\u306a\u3069\u3067\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5897\u5e45\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5148\u5929\u7684\u306a\u91cd\u8907\uff08\u751f\u307e\u308c\u3064\u304d\u5168\u8eab\u306e\u7d30\u80de\u3067\u591a\u3044\u72b6\u614b\uff09\u304c\u3001\u3069\u306e\u3088\u3046\u306a\u6210\u9577\u3078\u306e\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u304b\u306f\u7814\u7a76\u6bb5\u968e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>USP34 \/ XPO1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3082\u91cd\u8907\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u795e\u7d4c\u6a5f\u80fd\u3084\u9aa8\u683c\u5f62\u6210\u306b\u8907\u5408\u7684\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09\u3001\u304b\u3064\u4e0d\u660e<\/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>\u300c2p15-p16.1\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u81ea\u4f53\u306e\u5831\u544a\u6570\u304c\u4e16\u754c\u3067\u6570\u5341\u4f8b\u7a0b\u5ea6\u3068\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u300c\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u306e\u5831\u544a\u306f\u3055\u3089\u306b\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\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\u975e\u5e38\u306b\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u304c\u8efd\u5ea6\u30fb\u975e\u7279\u7570\u7684:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u5358\u306a\u308b\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u3084\u300c\u81ea\u9589\u75c7\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306e\u4e2d\u306b\u3001\u3053\u306e\u91cd\u8907\u304c\u96a0\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u51fa\u306a\u3044\uff08\u7121\u75c7\u72b6\uff09\u306e\u4eba\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u691c\u67fb\u3092\u53d7\u3051\u305a\u306b\u751f\u6d3b\u3057\u3066\u3044\u308b\u300c\u6f5c\u5728\u7684\u306a\u4fdd\u56e0\u8005\u300d\u304c\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u306e\u666e\u53ca:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u884c\u308f\u308c\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u306a\u3044\u5fae\u7d30\u306a\u91cd\u8907\u3067\u3042\u308a\u3001\u8fd1\u5e74\u306e\u691c\u67fb\u6280\u8853\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u3088\u3046\u3084\u304f\u767a\u898b\u3055\u308c\u59cb\u3081\u305f\u65b0\u3057\u3044\u6982\u5ff5\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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 duplication syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u795e\u7d4c\u767a\u9054\u75c7\uff08\u767a\u9054\u969c\u5bb3\uff09\u300d\u304c\u4e3b\u4f53\u3067\u3059\u304c\u3001\u8eab\u4f53\u7684\u306a\u5947\u5f62\u306f\u76ee\u7acb\u305f\u306a\u3044\u304b\u3001\u8efd\u5fae\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\u300d\u3068\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff09\u300d**\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\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>\u6700\u3082\u4e00\u822c\u7684\u306a\u75c7\u72b6\u306f\u3001\u767a\u9054\u9762\u3078\u306e\u5f71\u97ff\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u3084\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u308b\u3068\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5883\u754c\u57df\u77e5\u80fd\u3084**\u6b63\u5e38\u77e5\u80fd\uff08Normal IQ\uff09**\u3067\u3042\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3068\u3057\u3066\u3001\u7279\u5b9a\u306e\u5b66\u7fd2\u5206\u91ce\u306b\u82e6\u624b\u3055\u3092\u6301\u3064\u5834\u5408\u3082\u3042\u308a\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><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong> \u793e\u4f1a\u6027\u306e\u82e6\u624b\u3055\u3084\u3053\u3060\u308f\u308a\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09:<\/strong> \u4e0d\u6ce8\u610f\u3084\u591a\u52d5\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u969c\u5bb3\u3084\u60c5\u7dd2\u7684\u306a\u554f\u984c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\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\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u300c\u7bb1\u578b\u306e\u982d\u300d\u3068\u3044\u3063\u305f\u5f37\u3044\u7279\u5fb4\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u56f2\u306e\u7570\u5e38\uff08\u93e1\u50cf\u52b9\u679c\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u300c\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u300d\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f**\u300c\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u300d**\u3042\u308b\u3044\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u306e\u5927\u304d\u3081\u306e\u982d\u56f2\u304c\u898b\u3089\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f<em>BCL11A<\/em>\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u3001\u8133\u306e\u5bb9\u91cf\u5236\u5fa1\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u4e4f\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5e73\u5766\u306a\u9f3b\u6839\u90e8\u3001\u5e83\u3044\u524d\u984d\u90e8\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u9aa8\u683c\u30fb\u6210\u9577<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u4f4e\u8eab\u9577\u3084\u6210\u9577\u969c\u5bb3\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f<strong>\u6b63\u5e38\u306a\u6210\u9577<\/strong>\u3001\u3042\u308b\u3044\u306f**\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09**\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\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>\u624b\u8db3\u306e\u6307\u306e\u8efd\u5fae\u306a\u7570\u5e38\uff08\u6307\u304c\u9577\u3044\u306a\u3069\uff09\u3084\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\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>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7\uff08\u983b\u5ea6\u306f\u4f4e\u3044\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u814e\u30fb\u6ccc\u5c3f\u5668\u7cfb\u306e\u7570\u5e38\u3084\u3001\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u514d\u75ab\u7cfb\uff1a<em>BCL11A<\/em>\u3084<em>REL<\/em>\u306f\u514d\u75ab\u7d30\u80de\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u304c\u3001\u73fe\u6642\u70b9\u3067\u91cd\u7be4\u306a\u514d\u75ab\u4e0d\u5168\u306e\u5831\u544a\u306f\u4e00\u822c\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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\u91cd\u8907<\/strong>\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\u300c\u591a\u3051\u308c\u3070\u826f\u3044\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u901a\u5e382\u30b3\u30d4\u30fc\u3067\u30d0\u30e9\u30f3\u30b9\u304c\u53d6\u308c\u3066\u3044\u308b\u3082\u306e\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u4f5c\u3089\u308c\u307e\u3059\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>BCL11A\u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3084\u79fb\u52d5\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u304c\u5909\u5316\u3057\u3001\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u306b\u5fae\u7d30\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u6b20\u5931\uff08\u8db3\u308a\u306a\u3044\uff09\u5834\u5408\u306b\u6bd4\u3079\u3066\u3001\u91cd\u8907\uff08\u591a\u3044\uff09\u5834\u5408\u306e\u65b9\u304c\u3001\u7d30\u80de\u3084\u751f\u4f53\u306b\u3068\u3063\u3066\u306e\u8a31\u5bb9\u7bc4\u56f2\u304c\u5e83\u3044\uff08\u30c0\u30e1\u30fc\u30b8\u304c\u5c11\u306a\u3044\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u65b9\u304c\u75c7\u72b6\u304c\u8efd\u304b\u3063\u305f\u308a\u3001\u7121\u75c7\u72b6\u3060\u3063\u305f\u308a\u3059\u308b\u7406\u7531\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\u3068\u4e0d\u5b8c\u5168\u6d78\u900f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u300c\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u300d\u3067\u767a\u751f\u3057\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306f**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d**\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u75c7\u72b6\u304c\u8efd\u5fae\uff08\u307e\u305f\u306f\u7121\u75c7\u72b6\uff09\u3067\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u904e\u3054\u3057\u3066\u304a\u308a\u3001\u5b50\u3069\u3082\u306e\u691c\u67fb\u3067\u521d\u3081\u3066\u5224\u660e\u3059\u308b\u3068\u3044\u3046\u30d1\u30bf\u30fc\u30f3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6027\u5225\u306b\u95a2\u308f\u3089\u305a50%\u306e\u78ba\u7387\u3067\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u907a\u4f1d\u3057\u3066\u3082\u540c\u3058\u75c7\u72b6\u304c\u51fa\u308b\u3068\u306f\u9650\u3089\u305a\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306f\u4e88\u6e2c\u3067\u304d\u307e\u305b\u3093\uff08\u53ef\u5909\u8868\u73fe\u6027\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>\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u306f\u7279\u5fb4\u304c\u3064\u304b\u3081\u306a\u3044\u305f\u3081\u3001\u8a3a\u65ad\u306f\u56f0\u96e3\u3067\u3059\u3002\u767a\u9054\u9045\u6ede\u3084\u81ea\u9589\u75c7\u306e\u691c\u67fb\u904e\u7a0b\u3067\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u884c\u308f\u308c\u3066\u767a\u898b\u3055\u308c\u307e\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\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\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>\u3053\u306e\u691c\u67fb\u306b\u3088\u308a\u3001\u6b20\u5931\uff08Deletion\uff09\u306a\u306e\u304b\u91cd\u8907\uff08Duplication\uff09\u306a\u306e\u304b\u304c\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89e3\u91c8\u306e\u91cd\u8981\u6027:<\/strong> \u3082\u3057\u5065\u5eb7\u306a\u89aa\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u305d\u306e\u91cd\u8907\u306e\u75c5\u539f\u6027\u306f\u4f4e\u3044\uff08\u826f\u6027\u3001\u307e\u305f\u306f\u767a\u75c7\u3057\u306b\u304f\u3044\uff09\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u8efd\u6e1b\u3057\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u4e0a\u3067\u975e\u5e38\u306b\u91cd\u8981\u306a\u60c5\u5831\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9006\u306b\u3001\u89aa\u304c\u6301\u3063\u3066\u304a\u3089\u305a\u7a81\u7136\u5909\u7570\u3067\u3042\u3063\u305f\u5834\u5408\u306f\u3001\u305d\u306e\u91cd\u8907\u304c\u304a\u5b50\u3055\u3093\u306e\u75c7\u72b6\u306e\u539f\u56e0\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u306a\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\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u30fb\u751f\u6d3b\u9762\u3078\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\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>\u8a00\u8449\u306e\u9045\u308c\u3084\u904b\u52d5\u306e\u304e\u3053\u3061\u306a\u3055\u304c\u3042\u308b\u5834\u5408\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u6d3b\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u304c\u306a\u304f\u3066\u3082\u3001ADHD\u3084\u5b66\u7fd2\u969c\u5bb3\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b66\u6821\u3067\u306e\u74b0\u5883\u8abf\u6574\u3084\u500b\u5225\u306e\u5b66\u7fd2\u652f\u63f4\uff08\u901a\u7d1a\u6307\u5c0e\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u304a\u5b50\u3055\u3093\u306e\u5f97\u610f\u306a\u3053\u3068\uff08\u8996\u899a\u512a\u4f4d\u306a\u3069\uff09\u3092\u898b\u3064\u3051\u3001\u4f38\u3070\u3057\u3066\u3044\u304f\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u30b1\u30a2<\/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>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306e\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u898b\u901a\u3057\u306e\u7acb\u3064\u74b0\u5883\u4f5c\u308a\u3084\u3001\u611f\u899a\u904e\u654f\u3078\u306e\u914d\u616e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e8c\u6b21\u7684\u306a\u969c\u5bb3\uff08\u4e0d\u5b89\u3084\u4e0d\u767b\u6821\u306a\u3069\uff09\u3092\u9632\u3050\u305f\u3081\u3001\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u533b\u7642\u6a5f\u95a2\u3068\u306e\u9023\u643a\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u306a\u5185\u81d3\u306e\u75c5\u6c17\u304c\u306a\u3051\u308c\u3070\u3001\u983b\u7e41\u306a\u901a\u9662\u306f\u4e0d\u8981\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e73\u5e7c\u5150\u5065\u8a3a\u3067\u982d\u56f2\u306e\u6210\u9577\u66f2\u7dda\u3092\u78ba\u8a8d\u3057\u305f\u308a\uff08\u5927\u982d\u75c7\u306e\u50be\u5411\uff09\u3001\u8996\u529b\u30fb\u8074\u529b\u306e\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3063\u305f\u308a\u3059\u308b\u7a0b\u5ea6\u3067\u5341\u5206\u306a\u5834\u5408\u304c\u307b\u3068\u3093\u3069\u3067\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><strong>\u6700\u3082\u91cd\u8981\u306a\u30b1\u30a2\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u53d7\u3051\u6b62\u3081:<\/strong> \u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3068\u8a3a\u65ad\u3055\u308c\u308b\u3068\u9a5a\u304b\u308c\u308b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u300c\u91cd\u8907\u300d\u306f\u300c\u6b20\u5931\u300d\u3068\u306f\u7570\u306a\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u4e00\u822c\u7684\u306b\u4e88\u5f8c\u306f\u826f\u597d\u306a\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3053\u3068\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>VOUS\uff08\u81e8\u5e8a\u7684\u610f\u7fa9\u4e0d\u660e\u306a\u5909\u7570\uff09\u3068\u3057\u3066\u306e\u5074\u9762:<\/strong> \u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u3066\u3082\u3001\u305d\u308c\u304c\u672c\u5f53\u306b\u304a\u5b50\u3055\u3093\u306e\u75c7\u72b6\u306e\u5168\u3066\u306e\u539f\u56e0\u306a\u306e\u304b\u3001\u305d\u308c\u3068\u3082\u5358\u306a\u308b\u4f53\u8cea\uff08\u826f\u6027\u5909\u7570\uff09\u306a\u306e\u304b\u3001\u5224\u65ad\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u5c02\u9580\u5bb6\u3068\u3088\u304f\u8a71\u3057\u5408\u3044\u3001\u904e\u5ea6\u306b\u75c5\u6c17\u6271\u3044\u305b\u305a\u3001\u304a\u5b50\u3055\u3093\u81ea\u8eab\u3092\u898b\u308b\u8996\u70b9\u3092\u6301\u3064\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408\u306e\u7f6a\u60aa\u611f\u306e\u8efd\u6e1b\u3084\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3082\u76f8\u8ac7\u3057\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>2p15-p16.1 duplication syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u540c\u3058\u5834\u6240\u304c\u6b20\u3051\u308b\u300c\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9006\u306e\u73fe\u8c61\u3067\u3042\u308a\u3001\u4e00\u822c\u7684\u306b\u75c7\u72b6\u306f\u3088\u308a\u30de\u30a4\u30eb\u30c9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u982d\u304c\u5c11\u3057\u5927\u304d\u3081\u300d\u300c\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u300d\u300c\u3053\u3060\u308f\u308a\u304c\u3042\u308b\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u306b\u306f\u5168\u304f\u75c7\u72b6\u304c\u306a\u304f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u307e\u3067\u6c17\u3065\u304b\u306a\u3044\u4eba\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3057\u3001\u304a\u5b50\u3055\u3093\u306b\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u304c\u3042\u308a\u3001\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u305d\u308c\u304c\u300c\u91cd\u3044\u75c5\u6c17\u300d\u3092\u610f\u5473\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3080\u3057\u308d\u3001\u300c\u5065\u5eb7\u306a\u89aa\u5fa1\u3055\u3093\u3082\u6301\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u3001\u500b\u6027\u306e\u4e00\u3064\u300d\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5225\u306a\u6cbb\u7642\u3084\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u7df4\u7fd2\u3084\u3001\u5b66\u7fd2\u306e\u30b5\u30dd\u30fc\u30c8\u306a\u3069\u3001\u305d\u306e\u6642\u306e\u304a\u5b50\u3055\u3093\u306e\u300c\u56f0\u308a\u611f\u300d\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3092\u884c\u3048\u3070\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306b\u306f\u60c5\u5831\u304c\u5c11\u306a\u304f\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u91cd\u3044\u75c7\u72b6\u3068\u6df7\u540c\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u306e\u5c02\u9580\u5bb6\u3068\u9023\u643a\u3057\u3001\u6b63\u3057\u3044\u60c5\u5831\u3092\u57fa\u306b\u3001\u304a\u5b50\u3055\u3093\u306e\u8c4a\u304b\u306a\u53ef\u80fd\u6027\u3092\u4fe1\u3058\u3066\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>Bagheri, H., et al.<\/strong> (2016). <em>Small 2p15-p16.1 deletions: A Report of two families and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8ad6\u6587\u3060\u304c\u3001BCL11A\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3084\u3001\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Dosage effect\uff09\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u8b70\u8ad6\u3055\u308c\u3066\u304a\u308a\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u3082\u57fa\u790e\u3068\u306a\u308b\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Peter, B., et al.<\/strong> (2014). <em>The genetic architecture of speech and language disorders.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a00\u8a9e\u969c\u5bb3\u3092\u6301\u3064\u96c6\u56e3\u306b\u304a\u3051\u308bCNV\uff08\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff09\u89e3\u6790\u306b\u304a\u3044\u3066\u3001BCL11A\u3092\u542b\u30802p15-p16.1\u9818\u57df\u306e\u7570\u5e38\u304c\u8a00\u8a9e\u767a\u9054\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Deciphering Developmental Disorders Study<\/strong>: <em>Genotype-phenotype data for 2p15-p16.1 duplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u7684\u306a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff08DECIPHER\uff09\u306b\u304a\u3044\u3066\u3001\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\uff08\u5927\u982d\u75c7\u3001\u767a\u9054\u9045\u6ede\u3001\u3042\u308b\u3044\u306f\u7121\u75c7\u72b6\u306a\u3069\uff09\u304c\u96c6\u7a4d\u3055\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Basak, A., et al.<\/strong> (2015). <em>BCL11A controls Fetal to Adult Hemoglobin Switching.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bBCL11A\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u89e3\u660e\u3057\u305f\u7814\u7a76\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u91cf\u7684\u306a\u5909\u5316\u304c\u751f\u4f53\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u308b\u305f\u3081\u306e\u57fa\u790e\u6587\u732e\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\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3060\u304c\u3001\u91cd\u8907\uff08Duplication\uff09\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306e\u8003\u3048\u65b9\u3084\u3001\u5bb6\u65cf\u6027\u907a\u4f1d\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3055\u308c\u3066\u3044\u308b\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\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08\u91cd\u8907\u306b\u3088\u308b\u75c5\u539f\u6027\uff09\u306b\u95a2\u3059\u308b\u79d1\u5b66\u7684\u8a55\u4fa1\u3002\u73fe\u6642\u70b9\u3067\u306f\u91cd\u8907\u306b\u3088\u308b\u91cd\u7be4\u306a\u75c5\u539f\u6027\u306e\u8a3c\u62e0\u306f\u300c\u9650\u5b9a\u7684\uff08Little evidence\uff09\u300d\u307e\u305f\u306f\u300c\u8a55\u4fa1\u4e2d\u300d\u3068\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\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-16958","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\/16958","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\/16958\/revisions"}],"predecessor-version":[{"id":16960,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16958\/revisions\/16960"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16958"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}