{"id":16787,"date":"2026-01-20T03:25:43","date_gmt":"2026-01-20T03:25:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16787"},"modified":"2026-01-22T08:56:20","modified_gmt":"2026-01-22T08:56:20","slug":"17q23-1-q23-2-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q23-1-q23-2-duplication-syndrome\/","title":{"rendered":"17q23.1-q23.2 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>17q23.1-q23.2\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17q23.1-q23.2\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff0817q23.1-q23.2 microduplication syndrome\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc17q23\uff08Partial trisomy 17q23\uff09<\/li>\n\n\n\n<li>17q23\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff0817q23 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5148\u5929\u6027\u5185\u53cd\u8db3\uff08Congenital Talipes Equinovarus; CTEV \/ Clubfoot\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5bb6\u65cf\u6027\u7279\u767a\u6027\u5185\u53cd\u8db3\uff08Familial isolated clubfoot\uff09<\/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>17\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0923.1\u304b\u308923.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c23.1\u300d\u304b\u3089\u300c23.2\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>\u3053\u306e\u9818\u57df\u306f\u3001\u7d042.2\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u30b5\u30a4\u30ba\u3092\u6301\u3064\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5834\u6240\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306b\u3082\u975e\u5e38\u306b\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u300c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u300d\u3067\u3042\u308a\u3001\u5168\u304f\u540c\u3058\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3068\u300c\u5c0f\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff0817q23.1-q23.2\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\uff08\u91cd\u8907\uff09\u306f\u3001\u305d\u306e\u9006\u306e\u73fe\u8c61\uff08Reciprocal duplication\uff09\u3067\u3059\u304c\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u6b20\u5931\u3068\u306f\u7570\u306a\u308b\u72ec\u7279\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\uff1aTBX4\u3068TBX2\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u7d0420\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u5f62\u6210\u306b\u306f\u4ee5\u4e0b\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u306e\u904e\u5270\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09\u304c\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TBX4 (T-Box Transcription Factor 4):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0b\u80a2\u306e\u5f62\u6210:<\/strong> \u80ce\u5150\u671f\u306b\u300c\u811a\uff08\u4e0b\u80a2\uff09\u300d\u304c\u4f5c\u3089\u308c\u308b\u969b\u306e\u53f8\u4ee4\u5854\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u300c\u819d\u306e\u304a\u76bf\u304c\u5c0f\u3055\u304f\u306a\u308b\u300d\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u3057\u3066\u904e\u5270\u306b\u306a\u308b\u3068\u3001\u8db3\u306e\u9aa8\u3084\u95a2\u7bc0\u306e\u5f62\u6210\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001**\u300c\u5148\u5929\u6027\u5185\u53cd\u8db3\uff08Clubfoot\uff09\u300d**\u306a\u3069\u306e\u5f62\u614b\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TBX2 (T-Box Transcription Factor 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u306e\u5f62\u6210:<\/strong> \u5fc3\u81d3\u306e\u767a\u751f\u3001\u7279\u306b\u4e2d\u9694\u3084\u5f01\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306e\u904e\u5270\u306f\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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>17q23.1-q23.2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\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\u3067\u306e\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u7a0b\u5ea6\u3067\u3059\u304c\u3001\u3053\u308c\u306f\u300c\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u305f\u6570\u306b\u904e\u304e\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5b9f\u969b\u306b\u306f\u3001\u5358\u306a\u308b\u300c\u5bb6\u65cf\u6027\u306e\u5185\u53cd\u8db3\u300d\u3068\u3057\u3066\u6cbb\u7642\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306e\u4e2d\u306b\u3001\u3053\u306e\u67d3\u8272\u4f53\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u65b9\u304c\u4e00\u5b9a\u6570\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\u3001\u8eab\u4f53\u7684\u306a\u5927\u5947\u5f62\u3084\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\u8efd\u75c7\u4f8b\u3092\u542b\u3081\u308b\u3068\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u6f5c\u5728\u7684\u306a\u60a3\u8005\u6570\u306f\u5831\u544a\u6570\u3088\u308a\u3082\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>17q23.1-q23.2 duplication syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001**\u300c\u9aa8\u683c\u7570\u5e38\uff08\u7279\u306b\u5185\u53cd\u8db3\uff09\u300d\u300c\u5fc3\u75be\u60a3\u300d\u300c\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d**\u306e3\u3064\u304c\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u5c0f\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff09\u3068\u6bd4\u3079\u308b\u3068\u3001\u9aa8\u306e\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308a\u3001\u307e\u305f\u80ba\u9ad8\u8840\u5727\u75c7\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306f\u73fe\u6642\u70b9\u3067\u306f\u660e\u78ba\u306a\u95a2\u9023\u306f\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>1. \u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7570\u5e38\uff08\u5185\u53cd\u8db3\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u8c61\u5fb4\u7684\u304b\u3064\u9ad8\u983b\u5ea6\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5185\u53cd\u8db3\uff08Clubfoot \/ Talipes Equinovarus\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8db3\u306e\u88cf\u304c\u5185\u5074\u3092\u5411\u304d\u3001\u8db3\u5148\u304c\u4e0b\u3092\u5411\u3044\u305f\u72b6\u614b\u3067\u786c\u304f\u306a\u3063\u3066\u3044\u308b\u5909\u5f62\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7247\u8db3\u306e\u307f\u306e\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u4e21\u8db3\u306b\u751f\u3058\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u822c\u7684\u306a\u5185\u53cd\u8db3\u306f\u591a\u56e0\u5b50\u907a\u4f1d\uff08\u907a\u4f1d\uff0b\u74b0\u5883\uff09\u3067\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u5834\u5408\u306f<em>TBX4<\/em>\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u3068\u3044\u3046\u5358\u4e00\u306e\u8981\u56e0\u304c\u5f37\u304f\u5f71\u97ff\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80a1\u95a2\u7bc0\u5f62\u6210\u4e0d\u5168\uff08Hip dysplasia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80a1\u95a2\u7bc0\u306e\u5c4b\u6839\uff08\u81fc\u84cb\uff09\u304c\u6d45\u304f\u3001\u8131\u81fc\u3057\u3084\u3059\u3044\u72b6\u614b\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\u306e\u9aa8\u683c\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u6307\u306e\u8efd\u5ea6\u306e\u7570\u5e38\uff08\u7b2c5\u6307\u306e\u6e7e\u66f2\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u300c\u819d\u84cb\u9aa8\u306e\u6b20\u640d\u300d\u306f\u901a\u5e38\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong><\/p>\n\n\n\n<p>\u7d04\u534a\u6570\u7a0b\u5ea6\u306e\u60a3\u8005\u3055\u3093\u306b\u5fc3\u75be\u60a3\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f<em>TBX2<\/em>\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u306b\u3088\u308b\u5f71\u97ff\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09:<\/strong> \u5de6\u53f3\u306e\u5fc3\u623f\u306e\u9593\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09:<\/strong> \u5fc3\u5ba4\u306e\u9593\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u306a\u3069\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306f\u624b\u8853\u3084\u30ab\u30c6\u30fc\u30c6\u30eb\u6cbb\u7642\u3067\u7ba1\u7406\u53ef\u80fd\u306a\u3082\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u767a\u9054\u3078\u306e\u5f71\u97ff\u306f\u3001\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\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>\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u5185\u53cd\u8db3\u3084\u80a1\u95a2\u7bc0\u306e\u554f\u984c\u306b\u3088\u308b\u4e8c\u6b21\u7684\u306a\u9045\u308c\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\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>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f<strong>\u6b63\u5e38\u7bc4\u56f2\u306e\u77e5\u80fd<\/strong>\u3001\u3042\u308b\u3044\u306f<strong>\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3<\/strong>\u7a0b\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3084\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u3082\u591a\u304f\u3044\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>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u7279\u6027\u3092\u6301\u3064\u5834\u5408\u304c\u3042\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u78ba\u7acb\u3055\u308c\u305f\u7279\u5fb4\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u76ee\u7acb\u305f\u306a\u3044\uff08\u975e\u7279\u7570\u7684\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a73\u7d30\u306a\u89b3\u5bdf\u3067\u306f\u3001\u5e83\u3044\u524d\u982d\u90e8\u3001\u773c\u9593\u958b\u96e2\u3001\u8584\u3044\u4e0a\u5507\u3001\u5c0f\u3055\u306a\u984e\u306a\u3069\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\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\n\n\n<li><strong>\u8074\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f1d\u97f3\u6027\u307e\u305f\u306f\u611f\u97f3\u6027\u306e\u96e3\u8074\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q23.1-q23.2\uff09\u306b\u304a\u3051\u308b\u7d042.2Mb\u306e\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>\u3053\u306e\u9818\u57df\u306eDNA\u69cb\u9020\u306b\u306f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>17q23.1-q23.2\u9818\u57df\u306e\u4e21\u7aef\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\u5b58\u5728\u3057\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\uff08\u5c0f\u819d\u84cb\u9aa8\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\uff0817q23.1-q23.2\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\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u300c\u8868\u88cf\u4e00\u4f53\u300d\u306e\u95a2\u4fc2\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. TBX4\u907a\u4f1d\u5b50\u306e\u7528\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<p>\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\u7279\u306b\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3068\u547c\u3070\u308c\u308b\u907a\u4f1d\u5b50\u7fa4\u306f\u3001\u305d\u306e\u91cf\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TBX4\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u56db\u80a2\uff08\u7279\u306b\u5f8c\u308d\u8db3\uff09\u306e\u767a\u751f\u3092\u6307\u4ee4\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u904e\u5270\u306b\u306a\u308b\uff083\u30b3\u30d4\u30fc\u306b\u306a\u308b\uff09\u3068\u3001\u8db3\u3092\u4f5c\u308b\u305f\u3081\u306e\u30b7\u30b0\u30ca\u30eb\u304c\u5f37\u304f\u306a\u308a\u3059\u304e\u305f\u308a\u3001\u30bf\u30a4\u30df\u30f3\u30b0\u304c\u305a\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u7b4b\u8089\u3084\u8171\u3001\u9aa8\u306e\u6210\u9577\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u8db3\u304c\u5185\u5074\u306b\u5f15\u3063\u5f35\u3089\u308c\u308b\u3088\u3046\u306a\u5f62\uff08\u5185\u53cd\u8db3\uff09\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9f\u969b\u306b\u3001\u52d5\u7269\u5b9f\u9a13\uff08\u30de\u30a6\u30b9\uff09\u306a\u3069\u3067\u3082\u3001<em>Tbx4<\/em>\u306e\u767a\u73fe\u91cf\u304c\u5909\u308f\u308b\u3068\u80a2\u306e\u5f62\u6210\u306b\u7570\u5e38\u304c\u51fa\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u5b50\u3067\u521d\u3081\u3066\u767a\u751f\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\u30fb\u53ef\u5909\u8868\u73fe\u6027\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306e\u91cd\u8981\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d**\u304c\u6bd4\u8f03\u7684\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u304c\u3001\u300c\u5b50\u4f9b\u306e\u9803\u306b\u5185\u53cd\u8db3\u306e\u624b\u8853\u3092\u3057\u305f\u3060\u3051\u3067\u3001\u4eca\u306f\u5065\u5eb7\u300d\u3068\u3044\u3046\u5834\u5408\u3084\u3001\u300c\u5168\u304f\u75c7\u72b6\u304c\u306a\u3044\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u300d\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5185\u3067\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u75c7\u72b6\u306e\u91cd\u3055\u304c\u7570\u306a\u308b\uff08\u89aa\u306f\u8efd\u75c7\u3001\u5b50\u306f\u5fc3\u75be\u60a3\u3042\u308a\u3001\u306a\u3069\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u5185\u53cd\u8db3\u300d\u3068\u300c\u5fc3\u75be\u60a3\u300d\u306e\u5408\u4f75\u3001\u3042\u308b\u3044\u306f\u5bb6\u65cf\u306b\u540c\u69d8\u306e\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306a\u3069\u306b\u7591\u308f\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>\u73fe\u5728\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300217q23.1-q23.2\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u304c\u300c3\u300d\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u691c\u51fa\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u3001\u91cd\u8907\u304c\u5fae\u7d30\u306a\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u524d\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u30a8\u30b3\u30fc\u3067\u300c\u5185\u53cd\u8db3\u300d\u3084\u300c\u5fc3\u75be\u60a3\u300d\u304c\u898b\u3064\u304b\u308a\u3001\u7f8a\u6c34\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u3092\u884c\u3063\u3066\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u5185\u53cd\u8db3\u3084\u5fc3\u75be\u60a3\u306b\u5bfe\u3059\u308b**\u6a19\u6e96\u7684\u306a\u6cbb\u7642\uff08\u5bfe\u75c7\u7642\u6cd5\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u306b\u3088\u308a\u3001\u4e88\u5f8c\u306f\u826f\u597d\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642\uff08\u5185\u53cd\u8db3\uff09<\/strong><\/p>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u4ecb\u5165\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30dd\u30f3\u30bb\u30c6\u30a3\u6cd5\uff08Ponseti method\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u6a19\u6e96\u3068\u306a\u3063\u3066\u3044\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u3001\u77ef\u6b63\u30ae\u30d7\u30b9\u30921\u9031\u9593\u3054\u3068\u306b\u5dfb\u304d\u76f4\u3057\u3001\u5f90\u3005\u306b\u8db3\u306e\u5f62\u3092\u77ef\u6b63\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u3001\u30a2\u30ad\u30ec\u30b9\u8171\u3092\u5c11\u3057\u5207\u308b\u5c0f\u624b\u8853\uff08\u76ae\u4e0b\u5207\u8171\u8853\uff09\u3092\u4f75\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u5f8c\u3001\u518d\u767a\u3092\u9632\u3050\u305f\u3081\u306b\u88c5\u5177\uff08\u30c7\u30cb\u30b9\u30d6\u30e9\u30a6\u30f3\u88c5\u5177\u306a\u3069\uff09\u3092\u6570\u5e74\u9593\uff08\u901a\u5e384\u301c5\u6b73\u9803\u307e\u3067\uff09\u88c5\u7740\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ae\u30d7\u30b9\u77ef\u6b63\u3067\u6539\u5584\u304c\u4e0d\u5341\u5206\u306a\u5834\u5408\u3084\u3001\u5909\u5f62\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u9aa8\u3084\u8171\u306e\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5faa\u74b0\u5668\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u7d4c\u904e\u89b3\u5bdf\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7a74\u304c\u5927\u304d\u304f\u81ea\u7136\u9589\u9396\u3057\u306a\u3044\u5834\u5408\u3084\u3001\u5fc3\u4e0d\u5168\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u30ab\u30c6\u30fc\u30c6\u30eb\u6cbb\u7642\u3084\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u8a55\u4fa1\u3068\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u5185\u53cd\u8db3\u306e\u6cbb\u7642\u4e2d\u306f\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u8db3\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u904b\u52d5\u767a\u9054\u652f\u63f4\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u306f\u6b63\u5e38\u7bc4\u56f2\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5b66\u7fd2\u9762\u3067\u306e\u82e6\u624b\u3055\uff08LD\u50be\u5411\u306a\u3069\uff09\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b66\u6821\u3067\u306e\u500b\u5225\u652f\u63f4\u3084\u914d\u616e\u3092\u6c42\u3081\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>\u89aa\u81ea\u8eab\u304c\u300c\u6614\u3001\u5185\u53cd\u8db3\u3060\u3063\u305f\u300d\u3068\u3044\u3046\u5834\u5408\u3001\u89aa\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u305f\u3081\u306b\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>17q23.1-q23.2 duplication syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u3001\u4e3b\u306b\u300c\u8db3\u306e\u5f62\uff08\u5185\u53cd\u8db3\uff09\u300d\u3084\u300c\u5fc3\u81d3\u300d\u306b\u5f71\u97ff\u304c\u51fa\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u805e\u304f\u3068\u4e0d\u5b89\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u75be\u60a3\u306f\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u308c\u3070\u901a\u5e38\u306e\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u5185\u53cd\u8db3\u306b\u95a2\u3057\u3066\u306f\u3001\u30dd\u30f3\u30bb\u30c6\u30a3\u6cd5\u306a\u3069\u306e\u78ba\u7acb\u3055\u308c\u305f\u6cbb\u7642\u6cd5\u304c\u3042\u308a\u3001\u65e9\u671f\u304b\u3089\u30b1\u30a2\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u30b9\u30dd\u30fc\u30c4\u304c\u3067\u304d\u308b\u30ec\u30d9\u30eb\u307e\u3067\u56de\u5fa9\u3059\u308b\u3053\u3068\u3082\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3054\u5bb6\u65cf\u306e\u4e2d\u3067\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6574\u5f62\u5916\u79d1\u3084\u5faa\u74b0\u5668\u79d1\u3067\u306e\u8eab\u4f53\u7684\u306a\u30b1\u30a2\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u767a\u9054\u30b5\u30dd\u30fc\u30c8\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Alvarado, D.M., et al.<\/strong> (2010). <em>Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5bb6\u65cf\u6027\u7279\u767a\u6027\u5185\u53cd\u8db3\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u300117q23.1-q23.2\u91cd\u8907\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u3092\u767a\u898b\u3057\u3001TBX4\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u304c\u5185\u53cd\u8db3\u306e\u4e3b\u8981\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u753b\u671f\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ballif, B.C., et al.<\/strong> (2010). <em>17q23.1q23.2 microdeletion syndrome: a newly recognized contiguous gene deletion syndrome involving TBX2 and TBX4.<\/em> (References reciprocal duplication).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5831\u544a\u306e\u4e2d\u3067\u3001\u76f8\u53cd\u3059\u308b\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3057\u3001TBX2\/TBX4\u306e\u7528\u91cf\u52b9\u679c\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lolin, K., et al.<\/strong> (2013). <em>17q23.1-q23.2 duplication syndrome: Three new patients and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u65b0\u305f\u306a\u75c7\u4f8b\u3092\u5831\u544a\u3057\u3001\u5185\u53cd\u8db3\u3001\u5fc3\u75be\u60a3\u3001\u8efd\u5ea6\u767a\u9054\u9045\u6ede\u3068\u3044\u3063\u305f\u81e8\u5e8a\u7279\u5fb4\u3092\u307e\u3068\u3081\u305f\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Patel, N., et al.<\/strong> (2012). <em>Recurrent 17q23.1q23.2 microduplications that include TBX4 are associated with pulmonary hypertension.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e00\u90e8\u306e\u91cd\u8907\u75c7\u5019\u7fa4\u60a3\u8005\u306b\u304a\u3044\u3066\u80ba\u9ad8\u8840\u5727\u75c7\u306e\u5831\u544a\u304c\u3042\u308b\u3053\u3068\u306b\u3064\u3044\u3066\u306e\u7814\u7a76\u3002\u305f\u3060\u3057\u6b20\u5931\u307b\u3069\u5f37\u3044\u76f8\u95a2\u3067\u306f\u306a\u3044\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>TBX4<\/em> (Triplosensitivity score: 3 &#8211; Sufficient evidence), <em>TBX2<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bTBX4\u907a\u4f1d\u5b50\u304c\u91cd\u8907\uff083\u30b3\u30d4\u30fc\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u5185\u53cd\u8db3\u306a\u3069\u306e\u75c5\u539f\u6027\u3092\u6301\u3064\u3053\u3068\u3092\u88cf\u4ed8\u3051\u308b\u5c02\u9580\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>17q23 microduplications<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><\/p>\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-16787","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\/16787","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16787\/revisions"}],"predecessor-version":[{"id":17612,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16787\/revisions\/17612"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16787"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}