{"id":16886,"date":"2026-01-21T01:46:04","date_gmt":"2026-01-21T01:46:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16886"},"modified":"2026-01-21T01:46:04","modified_gmt":"2026-01-21T01:46:04","slug":"1p36-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1p36-duplication-syndrome\/","title":{"rendered":"1p36 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>1p36\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1p36\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff081p36 microduplication syndrome\uff09<\/li>\n\n\n\n<li>1p36\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 1p36\uff09<\/li>\n\n\n\n<li>1\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\u91cd\u8907\u75c7\u5019\u7fa4\uff08Duplication 1pter syndrome\uff09<\/li>\n\n\n\n<li>1p36\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u76f8\u53cd\u91cd\u8907\uff08Reciprocal duplication of 1p36 deletion syndrome\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u306e\u4f4d\u7f6e\u3065\u3051\uff1a<\/p>\n\n\n\n<p>\u300c1p36\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u67d3\u8272\u4f53\u672b\u7aef\u6b20\u5931\u3068\u3057\u3066\u6709\u540d\u3067\u3059\u304c\u3001\u672c\u75be\u60a3\u306f\u305d\u306e\u300c\u9006\u300d\u306e\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u540c\u3058\u5834\u6240\u304c\u91cd\u8907\u3057\u3066\u5897\u3048\u3066\u3044\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u306e\u91cf\u304c1.5\u500d\uff083\u30b3\u30d4\u30fc\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u308b\u3068\u5831\u544a\u6570\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8fd1\u5e74\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\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>1\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0936\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e1\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c36\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\u7279\u5fb4\u3011<\/p>\n\n\n\n<p>1p36\u9818\u57df\u306f\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u9ad8\u304f\u3001\u8133\u306e\u767a\u9054\u3084\u8eab\u4f53\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u591a\u6570\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u8907\u306e\u30b5\u30a4\u30ba:<\/strong> \u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u6570100\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306e\u5fae\u7d30\u306a\u3082\u306e\u304b\u3089\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u4ee5\u4e0a\u306e\u5927\u304d\u306a\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8cac\u4efb\u907a\u4f1d\u5b50:<br>\u91cd\u8907\u306b\u3088\u3063\u3066\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08Triplosensitivity\uff09\u300d\u3092\u6301\u3064\u907a\u4f1d\u5b50\u306f\u5b8c\u5168\u306b\u306f\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>MMP23B \/ GABRD \/ SKI \/ PRDM16:<\/strong> \u3053\u308c\u3089\u306f1p36\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u3057\u305f\u5834\u5408\uff08\u904e\u5270\u767a\u73fe\uff09\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u3082\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b<em>PRDM16<\/em>\u3084<em>SKI<\/em>\u306a\u3069\u306e\u767a\u751f\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u904e\u5270\u306f\u3001\u5fc3\u81d3\u3084\u982d\u84cb\u9854\u9762\u306e\u5f62\u6210\u306b\u5f71\u97ff\u3092\u4e0e\u3048\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>\u7a00\uff08Rare\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>\u300c1p36\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u304c\u7d045,000\u301c10,000\u4eba\u306b1\u4eba\u3068\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5831\u544a\u6570\u306f\u305d\u308c\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u5b9f\u969b\u306e\u767a\u751f\u304c\u5c11\u306a\u3044\u3060\u3051\u3067\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u591a\u69d8\u6027:<\/strong> \u6b20\u5931\u75c7\u5019\u7fa4\u307b\u3069\u7279\u5fb4\u7684\u306a\u5916\u898b\uff08\u5178\u578b\u7684\u306a\u9854\u8c8c\uff09\u3092\u793a\u3055\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306b\u81f3\u3089\u306a\u3044\u30b1\u30fc\u30b9\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u5fae\u7d30\u306a\u91cd\u8907\u304c\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u3088\u3046\u3084\u304f\u8a3a\u65ad\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u305f\u3081\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>1p36 duplication syndrome\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u5834\u6240\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3092\u96c6\u3081\u305f\u7814\u7a76\u306b\u3088\u308a\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u5927\u982d\u75c7\u50be\u5411\u300d**\u306a\u3069\u304c\u5171\u901a\u70b9\u3068\u3057\u3066\u6d6e\u304b\u3073\u4e0a\u304c\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8208\u5473\u6df1\u3044\u306e\u306f\u30011p36\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u300c\u93e1\u5408\u308f\u305b\u300d\u306e\u3088\u3046\u306a\u5bfe\u7167\u7684\u306a\u75c7\u72b6\u3092\u793a\u3059\u5834\u5408\u304c\u3042\u308b\u3053\u3068\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>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\u3067\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u30b5\u30a4\u30ba\u304c\u5927\u304d\u3044\u307b\u3069\u3001\u969c\u5bb3\u306e\u7a0b\u5ea6\u304c\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\u306a\u3069\uff09\u3068\u3001\u7cbe\u795e\u767a\u9054\u306e\u4e21\u65b9\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u3082\u4e00\u822c\u7684\u3067\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\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306e\u3088\u3046\u306a\u884c\u52d5\u7279\u6027\u3001\u591a\u52d5\u3001\u653b\u6483\u6027\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\u307b\u3069\u5178\u578b\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u306e\u5f62\uff08\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u5bfe\u6bd4\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1p36\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u300c\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u300d\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u304c\u30011p36\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u9006\u306b**\u300c\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u300d**\u3042\u308b\u3044\u306f\u6b63\u5e38\u301c\u5927\u304d\u3081\u306e\u982d\u56f2\u3092\u793a\u3059\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\uff09\u304c\u7a81\u51fa\u3057\u3066\u3044\u308b\uff08Frontal bossing\uff09\u306e\u3082\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u7acb\u3061:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7709\u6bdb\u304c\u6fc3\u3044\u3001\u307e\u305f\u306f\u7279\u5fb4\u7684\u306a\u30a2\u30fc\u30c1\u3092\u63cf\u304f\u3002<\/li>\n\n\n\n<li>\u6df1\u3044\u773c\u7aa9\uff08Deep-set eyes\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u3044\u3002<\/li>\n\n\n\n<li>\u984e\u304c\u5c16\u3063\u3066\u3044\u308b\uff08Pointed chin\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong><\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u306e**\u7d0430\u301c40%**\u306b\u5fc3\u75be\u60a3\u304c\u5408\u4f75\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e3b\u306a\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u91cd\u75c7\u5ea6\u306f\u69d8\u3005\u3067\u3059\u304c\u3001\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6642\u306e\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306f\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u304c\u9577\u3044\uff08\u304f\u3082\u72b6\u6307\uff1aArachnodactyly\uff09\u3084\u3001\u6307\u304c\u66f2\u304c\u3063\u3066\u3044\u308b\uff08\u5c48\u6307\u75c7\uff1aCamptodactyly\uff09\u3001\u7b2c5\u6307\u306e\u77ed\u7e2e\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5185\u53cd\u8db3\uff08Clubfoot\uff09\u3084\u3001\u8db3\u306e\u6307\u306e\u5909\u5f62\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u3001\u5074\u5f2f\u75c7\u306a\u3069\u306e\u30ea\u30b9\u30af\u3082\u3042\u308a\u307e\u3059\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>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1p36\u6b20\u5931\u75c7\u5019\u7fa4\u307b\u3069\u9ad8\u983b\u5ea6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6c34\u814e\u75c7\u3084\u505c\u7559\u7cbe\u5de3\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\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>1\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\uff081p36\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3053\u306e\u5834\u6240\u3067\u91cd\u8907\u304c\u8d77\u3053\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>1p36\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300c\u53cd\u5fa9\u914d\u5217\uff08LCR: Low Copy Repeats\uff09\u300d\u304c\u591a\u6570\u5b58\u5728\u3057\u3001\u8907\u96d1\u306a\u69cb\u9020\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u30da\u30a2\u3092\u7d44\u307f\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\uff08\u60c5\u5831\u306e\u4ea4\u63db\uff09\u304c\u8d77\u3053\u308b\u3068\u3001\u30a8\u30e9\u30fc\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u308b \u2192 <strong>\u6b20\u5931\uff081p36\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/strong><\/li>\n\n\n\n<li>\u3082\u3046\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u500d\u306b\u306a\u308b \u2192 <strong>\u91cd\u8907\uff081p36\u91cd\u8907\u75c7\u5019\u7fa4\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3053\u306e\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u6709\u540d\u306a\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u30e1\u30ab\u30cb\u30ba\u30e0\u7684\u306b\u8868\u88cf\u4e00\u4f53\u306e\u95a2\u4fc2\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08Translocation\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u7279\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5747\u8861\u8ee2\u5ea7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff081\u756a\u67d3\u8272\u4f53\u3068\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u91cf\u306f\u6b63\u5e38\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u89aa\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u5b50\u4f9b\u306b\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u969b\u306b\u30011p36\u9818\u57df\u304c\u5897\u3048\u305f\u72b6\u614b\uff08\u4e0d\u5747\u8861\uff09\u3067\u4f1d\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u30d1\u30bf\u30fc\u30f3\u3067\u306f\u30011p36\u306e\u91cd\u8907\u3060\u3051\u3067\u306a\u304f\u3001<strong>\u5225\u306e\u67d3\u8272\u4f53\u306e\u6b20\u5931<\/strong>\u3082\u540c\u6642\u306b\u8d77\u3053\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\uff08\u6d3e\u751f\u67d3\u8272\u4f53\uff09\u3001\u75c7\u72b6\u304c\u3088\u308a\u8907\u96d1\u30fb\u91cd\u7be4\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306f\u300c\u3042\u308c\u3070\u3042\u308b\u307b\u3069\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\u3001\u7d30\u80de\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3084\u767a\u751f\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u304c\u4e71\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b1p36\u9818\u57df\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8133\u3084\u5fc3\u81d3\u306e\u7cbe\u5bc6\u306a\u5f62\u6210\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u69cb\u9020\u7570\u5e38\u3084\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u767a\u9054\u9045\u6ede\u3001\u5fc3\u75be\u60a3\u306a\u3069\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\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>1p36\u91cd\u8907\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**\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u306e\u6709\u7121\u3060\u3051\u3067\u306a\u304f\u3001\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u7570\u5e38\u304c\u5408\u4f75\u3057\u3066\u3044\u306a\u3044\u304b\uff08\u4e0d\u5747\u8861\u8ee2\u5ea7\u306e\u53ef\u80fd\u6027\uff09\u3082\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b50\u4f9b\u306b\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u305d\u308c\u304c\u300c\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u300d\u306a\u306e\u304b\u3001\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\uff08\u8ee2\u5ea7\u7531\u6765\uff09\u300d\u306a\u306e\u304b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u3001\u4e21\u89aa\u306e\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\u307e\u305f\u306fFISH\u6cd5\uff09\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\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\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>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u30de\u30ab\u30c8\u30f3\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\u3001AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306a\u3069\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u3092\u30b5\u30dd\u30fc\u30c8\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\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\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5faa\u74b0\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853\u3092\u884c\u3044\u307e\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\u3042\u308b\u5834\u5408\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002\u8133\u6ce2\u691c\u67fb\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3082\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>\u8db3\u306e\u5909\u5f62\u3084\u5074\u5f2f\u75c7\u304c\u3042\u308b\u5834\u5408\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<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\u3092\u5b9a\u671f\u7684\u306b\u8a08\u6e2c\u3057\u307e\u3059\u3002\u7279\u306b\u5927\u982d\u75c7\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6c34\u982d\u75c7\u306a\u3069\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u6ce8\u610f\u6df1\u304f\u89b3\u5bdf\u3057\u307e\u3059\uff08\u6025\u6fc0\u306a\u982d\u56f2\u62e1\u5927\u304c\u306a\u3044\u304b\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a\u30fb\u8996\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3092\u884c\u3044\u3001\u554f\u984c\u304c\u3042\u308c\u3070\u65e9\u671f\u306b\u5bfe\u5fdc\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><strong>\u975e\u5e38\u306b\u91cd\u8981\u306a\u30d7\u30ed\u30bb\u30b9\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u7279\u306b\u3001\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u89aa\u65cf\uff08\u304d\u3087\u3046\u3060\u3044\u7b49\uff09\u306b\u3082\u540c\u3058\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\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\u3068\u76f8\u8ac7\u3057\u3001\u5bb6\u7cfb\u56f3\u306b\u57fa\u3065\u3044\u305f\u30ea\u30b9\u30af\u8a55\u4fa1\u3068\u3001\u4eca\u5f8c\u306e\u5bb6\u65cf\u8a08\u753b\u306b\u3064\u3044\u3066\u306e\u60c5\u5831\u63d0\u4f9b\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\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>1p36 duplication syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u5e0c\u5c11\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6709\u540d\u306a\u300c1p36\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306f\u5bfe\u7167\u7684\u306b\u3001\u300c\u982d\u304c\u5927\u304d\u3081\u300d\u300c\u72ec\u7279\u306e\u9854\u7acb\u3061\u300d\u300c\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u5fc3\u81d3\u75c5\u3092\u5408\u4f75\u3059\u308b\u5b50\u3082\u3044\u308c\u3070\u3001\u8eab\u4f53\u7684\u306b\u306f\u5065\u5eb7\u3067\u767a\u9054\u306e\u30b5\u30dd\u30fc\u30c8\u3060\u3051\u3092\u5fc5\u8981\u3068\u3059\u308b\u5b50\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u6642\u3001\u3054\u5bb6\u65cf\u306f\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u4e0d\u5b89\u3092\u611f\u3058\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u8a3a\u65ad\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u82e6\u624b\u3055\u300d\u306e\u539f\u56e0\u3092\u7406\u89e3\u3057\u3001\u6700\u9069\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u7528\u610f\u3059\u308b\u305f\u3081\u306e\u9053\u3057\u308b\u3079\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u533b\u7642\u30b1\u30a2\u306b\u52a0\u3048\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3092\u884c\u3046\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>\u307e\u305f\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5927\u304d\u306a\u52a9\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u3001\u7642\u80b2\u3001\u305d\u3057\u3066\u907a\u4f1d\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u3054\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u306b\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u652f\u3048\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>Kang, S.H., et al.<\/strong> (2010). <em>Gene dosage changes in 1p36.33, including the MMP23B gene, in patients with 1p36 deletion\/duplication syndromes.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1p36\u9818\u57df\u306e\u6b20\u5931\u3068\u91cd\u8907\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08\u7279\u306bMMP23B\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u6bd4\u8f03\u691c\u8a0e\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Giannikou, K., et al.<\/strong> (2012). <em>Clinical and molecular characterization of 1p36.33-p36.32 microduplication.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1p36\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u9854\u8c8c\u3001\u5927\u982d\u75c7\u3001\u767a\u9054\u9045\u6ede\u306a\u3069\uff09\u3092\u5831\u544a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Shimojima, K., et al.<\/strong> (2009). <em>Diverse 1p36 deletions and duplications in patients with intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u77e5\u7684\u969c\u5bb3\u3092\u6301\u3064\u60a3\u8005\u7fa4\u306b\u304a\u3051\u308b1p36\u306e\u6b20\u5931\u3068\u91cd\u8907\u306e\u591a\u69d8\u6027\u3092\u89e3\u6790\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>1p36 duplications<\/em> (2016).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30011p36\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3084\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\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>1p36 region genes<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b1p36\u9818\u57df\u306b\u542b\u307e\u308c\u308b\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\u8a55\u4fa1\u30c7\u30fc\u30bf\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 1p36 duplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u203b\u4e16\u754c\u4e2d\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/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-16886","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\/16886","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\/16886\/revisions"}],"predecessor-version":[{"id":16888,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16886\/revisions\/16888"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16886"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}