{"id":17172,"date":"2026-01-21T07:50:57","date_gmt":"2026-01-21T07:50:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17172"},"modified":"2026-01-21T07:50:57","modified_gmt":"2026-01-21T07:50:57","slug":"8p23-1-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/8p23-1-deletion-syndrome\/","title":{"rendered":"8p23.1 deletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>8p23.1\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>8p23.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff088p23.1 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>8p23.1\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 8p23.1\uff09<\/li>\n\n\n\n<li>GATA4\u95a2\u9023\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08GATA4-related congenital heart defect\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3067\u3042\u308b\u5fc3\u75be\u60a3\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>GATA4<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\uff088p23.1 duplication syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u3058\u9818\u57df\u304c\u300c\u91cd\u8907\u300d\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u6b20\u5931\u3068\u306f\u9006\u306e\u73fe\u8c61\u3067\u3059\u304c\u3001\u5171\u901a\u3057\u305f\u7279\u5fb4\u3092\u6301\u3064\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a8p\u9006\u4f4d\u91cd\u8907\u6b20\u5931\u75c7\u5019\u7fa4\uff08Inverted duplication and deletion of 8p; Inv-dup del 8p\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b<strong>\u3010\u91cd\u8981\u3011<\/strong> 8\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\u306b\u306f\u69d8\u3005\u306a\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u300cInv-dup del 8p\u300d\u306f\u672c\u75be\u60a3\uff088p23.1\u5358\u72ec\u6b20\u5931\uff09\u3088\u308a\u3082\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u75c7\u72b6\u3082\u91cd\u7be4\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308b\u5225\u306e\u75be\u60a3\u5358\u4f4d\u3067\u3059\u3002\u691c\u7d22\u6642\u306b\u6df7\u540c\u3057\u3084\u3059\u3044\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\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>8\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0923.1\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e8\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u5148\u7aef\u306b\u8fd1\u3044\u300c23.1\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>8p23.1\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u901a\u5e38\u306f\u7d043.7Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u7a0b\u5ea6\u306e\u6b20\u5931\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u69cb\u9020\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u3057\u3084\u3059\u3044\u9818\u57df\u306e\u4e21\u7aef\u306b\u306f\u3001**\u300c\u55c5\u899a\u53d7\u5bb9\u4f53\u907a\u4f1d\u5b50\u30af\u30e9\u30b9\u30bf\u30fc\uff08REPD\u3068REPP\uff09\u300d**\u3068\u547c\u3070\u308c\u308b\u3001DNA\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\uff08\u53cd\u5fa9\u914d\u5217\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u300c\u7cca\u4ee3\uff08\u306e\u308a\u3057\u308d\uff09\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3057\u307e\u3044\u3001\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u8aa4\u3063\u3066\u7d50\u5408\u3057\u3001\u305d\u306e\u9593\u306e\u907a\u4f1d\u5b50\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3046\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u7d043.7Mb\u306e\u9818\u57df\u306b\u306f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u75c7\u72b6\u5f62\u6210\u306b\u6df1\u304f\u95a2\u308f\u3063\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>GATA4 (GATA Binding Protein 4):<\/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>\u5fc3\u81d3\u306e\u767a\u751f\u30fb\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u8ee2\u5199\u56e0\u5b50\uff08\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u308b\u3068\u3001\u5fc3\u81d3\u306e\u58c1\u3084\u5f01\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u305a\u3001<strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09<\/strong>\u3001**\u623f\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08AVSD\uff09**\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SOX7 (SRY-Box Transcription Factor 7):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u751f\u6bb5\u968e\u3067\u306e\u7d44\u7e54\u5f62\u6210\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u5168\u4f53\u7684\u306a\u767a\u9054\u9045\u6ede\u3084\u3001<strong>\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2<\/strong>\uff08\u6a2a\u9694\u819c\u306b\u7a74\u304c\u958b\u304f\uff09\u306e\u30ea\u30b9\u30af\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TNKS (Tankyrase):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\u3084\u8a18\u61b6\u3001\u884c\u52d5\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u884c\u52d5\u7279\u6027\uff08\u591a\u52d5\u3084\u885d\u52d5\u6027\u306a\u3069\uff09\u3084\u5b66\u7fd2\u969c\u5bb3\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MCPH1 (Microcephalin 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u30b5\u30a4\u30ba\u3092\u5236\u5fa1\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> **\u5c0f\u982d\u75c7\uff08Microcephaly\uff09**\u306e\u539f\u56e0\u3068\u306a\u308a\u3001\u77e5\u7684\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MSRA:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u7cfb\u306b\u95a2\u4e0e\u3057\u3001\u884c\u52d5\u9762\u306e\u7279\u5fb4\u306b\u95a2\u9023\u3059\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>\u63a8\u5b9a\u3067\u306f\u3001\u51fa\u751f64,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u500b\u4eba\u5dee:<\/strong> \u5fc3\u75be\u60a3\u3092\u6301\u305f\u306a\u3044\u8efd\u75c7\u4f8b\u3084\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\u306e\u60a3\u8005\u3055\u3093\u306e\u5834\u5408\u3001\u67d3\u8272\u4f53\u691c\u67fb\u304c\u884c\u308f\u308c\u305a\u3001\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u307e\u307e\u751f\u6d3b\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u4ee5\u524d\u306f\u898b\u3064\u304b\u308a\u306b\u304f\u3044\u75be\u60a3\u3067\u3057\u305f\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\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>8p23.1 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u5148\u5929\u6027\u5fc3\u75be\u60a3\u300d\u300c\u767a\u9054\u9045\u6ede\u30fb\u884c\u52d5\u7279\u6027\u300d\u300c\u5c0f\u982d\u75c7\u300d\u304c3\u5927\u7279\u5fb4\u3067\u3059\u304c\u3001\u3055\u3089\u306b\u300c\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u300d**\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3092\u6301\u3064\u65b9\u304b\u3089\u3001\u901a\u5e38\u306e\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u65b9\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Congenital Heart Defects; CHD\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e<strong>\u7d0485\u301c90%\u4ee5\u4e0a<\/strong>\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u5408\u4f75\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e3b\u306a\u7a2e\u985e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09<\/li>\n\n\n\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09<\/li>\n\n\n\n<li>\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u75c7\uff08PS\uff09<\/li>\n\n\n\n<li><strong>\u623f\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08AVSD\uff09\uff1a<\/strong> \u6bd4\u8f03\u7684\u8907\u96d1\u306a\u5fc3\u5947\u5f62\u3067\u3059\u304c\u3001GATA4\u6b20\u5931\u306b\u95a2\u9023\u3057\u3066\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u8981\u6027:<\/strong> \u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u624b\u8853\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u73fe\u5728\u306e\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u624b\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u4e88\u5f8c\u306f\u826f\u597d\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08Congenital Diaphragmatic Hernia; CDH\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e**\u7d0420\u301c30%**\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80f8\u3068\u304a\u8179\u3092\u4ed5\u5207\u308b\u300c\u6a2a\u9694\u819c\u300d\u306b\u751f\u307e\u308c\u3064\u304d\u7a74\u304c\u958b\u3044\u3066\u304a\u308a\u3001\u80c3\u3084\u8178\u304c\u80f8\u306e\u4e2d\u306b\u4e0a\u304c\u308a\u8fbc\u3093\u3067\u3057\u307e\u3046\u75c5\u6c17\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u80ba\u306e\u6210\u9577\u3092\u59a8\u3052\u308b\u305f\u3081\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u547c\u5438\u969c\u5bb3\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u7dca\u6025\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>GATA4<\/em>\u3084<em>SOX7<\/em>\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u304c\u7591\u308f\u308c\u3066\u3044\u307e\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>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7372\u5f97\u3084\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u304c\u3086\u3063\u304f\u308a\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u652f\u63f4\u304c\u3042\u308c\u3070\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3084\u5c31\u52b4\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u3081\u3067\u3001\u304a\u3067\u3053\u304c\u72ed\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<em>MCPH1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<p>\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u8ab2\u984c\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u6ce8\u610f\u3001\u591a\u52d5\u3001\u885d\u52d5\u6027\u304c\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3058\u3063\u3068\u3057\u3066\u3044\u308b\u306e\u304c\u82e6\u624b\u3067\u3001\u7a81\u767a\u7684\u306a\u884c\u52d5\u3092\u3068\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u3060\u308f\u308a\u3084\u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u4f53\u7684\u306a\u77e5\u80fd\u306f\u4fdd\u305f\u308c\u3066\u3044\u3066\u3082\u3001\u7279\u5b9a\u306e\u5b66\u7fd2\u5206\u91ce\u306b\u82e6\u624b\u3055\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u7570\u7684\u9854\u8c8c\u300d\u3068\u547c\u3070\u308c\u308b\u307b\u3069\u76ee\u7acb\u3064\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u70b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u984d\u3001\u307e\u305f\u306f\u72ed\u3044\u984d\u3002<\/li>\n\n\n\n<li>\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u4f4e\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306f\u4f4e\u51fa\u751f\u4f53\u91cd\u5150\uff08SGA\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u3086\u3063\u304f\u308a\u306a\u5834\u5408\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>8\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff088p23.1\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1a\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3001\u3053\u306e\u5834\u6240\u304c\u6b20\u5931\u3057\u3084\u3059\u3044\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>8p23.1\u9818\u57df\u306b\u306f\u3001\u540c\u3058\u914d\u5217\u306e\u7e70\u308a\u8fd4\u3057\uff08\u53cd\u5fa9\u914d\u5217\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u300c\u55c5\u899a\u53d7\u5bb9\u4f53\u907a\u4f1d\u5b50\u30af\u30e9\u30b9\u30bf\u30fc\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7d30\u80de\u5206\u88c2\uff08\u6e1b\u6570\u5206\u88c2\uff09\u306e\u969b\u3001\u67d3\u8272\u4f53\u304c\u30da\u30a2\u3092\u4f5c\u3063\u3066\u60c5\u5831\u3092\u4ea4\u63db\u3057\u307e\u3059\u304c\u3001\u3053\u306e\u53cd\u5fa9\u914d\u5217\u304c\u3042\u308b\u305b\u3044\u3067\u3001\u30da\u30a2\u3092\u7d44\u3080\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u914d\u5217\u306e\u9593\u306b\u3042\u308b\u907a\u4f1d\u5b50\uff08GATA4\u306a\u3069\uff09\u304c\u3054\u3063\u305d\u308a\u3068\u629c\u3051\u843d\u3061\u3066\uff08\u6b20\u5931\u3057\u3066\uff09\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u89aa\u306e\u300c8p23.1\u9006\u4f4d\uff08Inversion\uff09\u300d\u3068\u306e\u95a2\u9023<\/strong><\/p>\n\n\n\n<p><strong>\u3053\u3053\u304c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u4e0a\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u4eba\u53e3\u306e\u7d0425%\uff084\u4eba\u306b1\u4eba\uff09\u306f\u30018p23.1\u9818\u57df\u306b\u300c\u9006\u4f4d\u300d\u3068\u3044\u3046\u591a\u578b\uff08\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u304f\u308b\u3063\u3068\u3072\u3063\u304f\u308a\u8fd4\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u304c\u3001\u907a\u4f1d\u5b50\u306e\u91cf\u81ea\u4f53\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001<strong>\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u306f\u5168\u304f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u89aa\u304c\u3053\u306e\u300c\u9006\u4f4d\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u67d3\u8272\u4f53\u304c\u8907\u96d1\u306a\u30eb\u30fc\u30d7\u3092\u4f5c\u3063\u3066\u30da\u30a2\u30ea\u30f3\u30b0\u3057\u3088\u3046\u3068\u3059\u308b\u305f\u3081\u3001\u6b20\u5931\u3084\u91cd\u8907\u304c\u751f\u3058\u3084\u3059\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3064\u307e\u308a\u3001\u89aa\u306b\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u304c\u306a\u304f\u3066\u3082\u3001\u907a\u4f1d\u7684\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3088\u3063\u3066\u304a\u5b50\u3055\u3093\u306b\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308b\u306e\u3067\u3059\u3002<\/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>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u306f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306f\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u306a\u3069\u3092\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u306f\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\u5148\u5929\u6027\u5fc3\u75be\u60a3\u300d\u300c\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306a\u3069\u306e\u75c7\u72b6\u304c\u3042\u308a\u3001\u539f\u56e0\u7cbe\u67fb\u3092\u884c\u3046\u904e\u7a0b\u3067\u898b\u3064\u304b\u308a\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\uff1a<\/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>8p23.1\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>GATA4<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u3088\u308a\u91cd\u7be4\u306a\u300c8p\u9006\u4f4d\u91cd\u8907\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306a\u3069\u3068\u306e\u9451\u5225\u3082\u53ef\u80fd\u3067\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\u691c\u67fb\u3067\u300c\u5fc3\u75be\u60a3\u300d\u3084\u300c\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u300d\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u7f8a\u6c34\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u51fa\u751f\u524d\u306b\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\u30fb\u80f8\u8179\u90e8\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5408\u4f75\u75c7\u306e\u8a55\u4fa1\u306e\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u751f\u547d\u306b\u95a2\u308f\u308b\u5408\u4f75\u75c7\u306e\u624b\u8853\u3068\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u7642\u80b2\u30fb\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642\uff08\u5fc3\u81d3\u30fb\u6a2a\u9694\u819c\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u751f\u547d\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u6700\u512a\u5148\u306e\u6cbb\u7642\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306b\u5bfe\u3057\u3001\u30d1\u30c3\u30c1\u9589\u9396\u8853\u306a\u3069\u306e\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3048\u3070\u3001\u5fc3\u81d3\u306e\u6a5f\u80fd\u306f\u6b63\u5e38\u306b\u56de\u5fa9\u3057\u3001\u904b\u52d5\u5236\u9650\u306a\u3069\u3082\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u547c\u5438\u7ba1\u7406\u3092\u884c\u3044\u3001\u72b6\u614b\u304c\u5b89\u5b9a\u3057\u305f\u6bb5\u968e\u3067\u6a2a\u9694\u819c\u306e\u7a74\u3092\u3075\u3055\u3050\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8fd1\u5e74\u306f\u5468\u7523\u671f\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u6551\u547d\u7387\u306f\u5411\u4e0a\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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\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>\u5b66\u7fd2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u3001\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u4f5c\u6210\u3057\u3001\u8aad\u307f\u66f8\u304d\u306e\u88dc\u52a9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u306e\u6d3b\u7528\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u5b66\u7d1a\u306b\u9032\u3080\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u652f\u63f4\u5b66\u7d1a\u3092\u9078\u629e\u3059\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002\u77e5\u7684\u306a\u9045\u308c\u306f\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u305d\u306e\u5b50\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u74b0\u5883\u8abf\u6574\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ADHD\u306e\u7279\u6027\uff08\u591a\u52d5\u30fb\u885d\u52d5\u6027\uff09\u306b\u5bfe\u3057\u3066\u306f\u3001\u74b0\u5883\u8abf\u6574\u3084\u884c\u52d5\u7642\u6cd5\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u85ac\u7269\u7642\u6cd5\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>\u8eab\u4f53\u767a\u80b2\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3001\u5074\u5f2f\u75c7\u306a\u3069\u306e\u9aa8\u683c\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e2d\u8033\u708e\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u8074\u529b\u691c\u67fb\u3082\u5927\u5207\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>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c8p\u6b20\u5931\u300d\u3068\u691c\u7d22\u3059\u308b\u3068\u3001\u3088\u308a\u91cd\u7be4\u306a\u75be\u60a3\u306e\u60c5\u5831\u304c\u51fa\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u300c8p23.1\u5358\u72ec\u6b20\u5931\u300d\u306f\u3001\u5fc3\u81d3\u306e\u624b\u8853\u3055\u3048\u4e57\u308a\u8d8a\u3048\u308c\u3070\u3001\u6bd4\u8f03\u7684\u4e88\u5f8c\u304c\u826f\u3044\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u3092\u4f1d\u3048\u3001\u6b63\u3057\u3044\u898b\u901a\u3057\u3092\u6301\u3066\u308b\u3088\u3046\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306e\u300c8p23.1\u9006\u4f4d\u300d\u306f\u826f\u6027\u306e\u3082\u306e\u3067\u3042\u308a\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u3053\u3068\u3092\u8aac\u660e\u3057\u3001\u6b21\u5b50\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>8p23.1 deletion syndrome\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u5fc3\u81d3\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u305f\u308a\uff08\u5fc3\u75be\u60a3\uff09\u3001\u6a2a\u9694\u819c\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u305f\u308a\uff08\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff09\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u306b\u624b\u8853\u304c\u5fc5\u8981\u3068\u8a00\u308f\u308c\u308b\u3068\u3001\u3054\u5bb6\u65cf\u306f\u76ee\u306e\u524d\u304c\u771f\u3063\u6697\u306b\u306a\u308b\u3088\u3046\u306a\u601d\u3044\u3092\u3055\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306b\u4f34\u3046\u5fc3\u75be\u60a3\u3084\u30d8\u30eb\u30cb\u30a2\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u6280\u8853\u3067\u6cbb\u7642\u53ef\u80fd\u306a\u3082\u306e\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u624b\u8853\u3092\u4e57\u308a\u8d8a\u3048\u308c\u3070\u3001\u5fc3\u81d3\u306f\u5143\u6c17\u306b\u52d5\u304d\u51fa\u3057\u3001\u4f53\u3082\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u9762\u3067\u306f\u3001\u8a00\u8449\u3084\u904b\u52d5\u304c\u5c11\u3057\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3001\u6d3b\u767a\u3059\u304e\u3066\u3058\u3063\u3068\u3057\u3066\u3044\u308b\u306e\u304c\u82e6\u624b\uff08ADHD\uff09\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u308c\u3067\u3082\u3001\u77e5\u7684\u306a\u9045\u308c\u306f\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u304a\u53cb\u9054\u3068\u904a\u3093\u3060\u308a\u3001\u5b66\u6821\u306b\u901a\u3063\u305f\u308a\u3001\u5c06\u6765\u7684\u306b\u4ed5\u4e8b\u3092\u3057\u305f\u308a\u3068\u3001\u793e\u4f1a\u306e\u4e2d\u3067\u8c4a\u304b\u306a\u4eba\u751f\u3092\u9001\u3063\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5fc3\u81d3\u306e\u75c5\u6c17\u300d\u3068\u300c\u767a\u9054\u306e\u500b\u6027\u300d\u306e\u4e21\u65b9\u3092\u898b\u3066\u3044\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u5bb6\u304c\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306f\u3001\u624b\u8853\u3068\u3044\u3046\u5927\u304d\u306a\u8a66\u7df4\u3092\u4e57\u308a\u8d8a\u3048\u308b\u5f37\u3044\u751f\u547d\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5faa\u74b0\u5668\u5185\u79d1\u533b\u3001\u5916\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u305f\u304f\u307e\u3057\u3044\u6210\u9577\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\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>Barber, J.C.K., et al.<\/strong> (2008). <em>8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b8p23.1\u9818\u57df\u306e\u6b20\u5931\u30fb\u91cd\u8907\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u7814\u7a76\u3002GATA4\u3084SOX7\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3068\u81e8\u5e8a\u50cf\uff08\u5fc3\u75be\u60a3\u3001\u30d8\u30eb\u30cb\u30a2\u3001\u767a\u9054\u9045\u6ede\uff09\u306e\u95a2\u9023\u3092\u8a73\u7d30\u306b\u5206\u6790\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Wat, M.J., et al.<\/strong> (2009). <em>Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b8p23.1\u6b20\u5931\u304c\u5fc3\u75be\u60a3\u3068\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3001GATA4\u304a\u3088\u3073SOX7\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u306e\u5f79\u5272\u3092\u5f37\u8abf\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Devriendt, K., et al.<\/strong> (1999). <em>Del(8p) and cardiac defects.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b8p\u6b20\u5931\u3068\u5fc3\u75be\u60a3\uff08\u7279\u306bGATA4\u95a2\u9023\uff09\u306e\u95a2\u9023\u3092\u521d\u671f\u306b\u5831\u544a\u3057\u3001\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3092\u540c\u5b9a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>8p23 deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u5fc3\u81d3\u624b\u8853\u5f8c\u306e\u30b1\u30a2\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u884c\u52d5\u9762\uff08ADHD\u306a\u3069\uff09\u3078\u306e\u5bfe\u5fdc\u3001\u5b66\u6821\u751f\u6d3b\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Shimokawa, O., et al.<\/strong> (2005). <em>Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3092\u5448\u3059\u308b8p23.1\u6b20\u5931\u75c7\u4f8b\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u3092\u884c\u3044\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7d5e\u308a\u8fbc\u307f\u3092\u884c\u3063\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>GATA4-Related Congenital Heart Defects<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u5408\u4f75\u75c7\u3067\u3042\u308bGATA4\u95a2\u9023\u5fc3\u75be\u60a3\u306e\u7ba1\u7406\u6307\u91dd\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\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-17172","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\/17172","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\/17172\/revisions"}],"predecessor-version":[{"id":17174,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17172\/revisions\/17174"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17172"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}