{"id":17202,"date":"2026-01-21T08:26:31","date_gmt":"2026-01-21T08:26:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17202"},"modified":"2026-01-21T08:27:08","modified_gmt":"2026-01-21T08:27:08","slug":"9p13-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/9p13-microdeletion-syndrome\/","title":{"rendered":"9p13 microdeletion 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>9p13\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>9p13\u6b20\u5931\u75c7\u5019\u7fa4\uff089p13 deletion syndrome\uff09<\/li>\n\n\n\n<li>9p13\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 9p13\uff09<\/li>\n\n\n\n<li>9p\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4\uff08Proximal 9p deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b9\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u300c\u4ed8\u3051\u6839\uff08\u8fd1\u4f4d\uff09\u300d\u5074\u306e\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u3001\u533b\u5b66\u7684\u306a\u5206\u985e\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a9p13.3\u6b20\u5931\u30019p13.2\u6b20\u5931\u30019p13.1\u6b20\u5931\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u7bc4\u56f2\u304c\u30b5\u30d6\u30d0\u30f3\u30c9\u306b\u9650\u5c40\u3059\u308b\u5834\u5408\u306e\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u9451\u5225\u75be\u60a3\uff1a9p\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4 \/ 9p24-p22 deletion\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b<strong>\u3010\u91cd\u8981\u3011<\/strong> \u6700\u3082\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u75be\u60a3\u3067\u3059\u3002\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\u306f\u300c\u67d3\u8272\u4f53\u306e\u5148\u7aef\uff08\u672b\u7aef\uff09\u300d\u306e\u6b20\u5931\u3067\u3042\u308a\u3001\u4e09\u89d2\u982d\u84cb\u306a\u3069\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u9855\u8457\u3067\u3059\u3002\u672c\u75be\u60a3\uff089p13\u6b20\u5931\uff09\u306f\u300c\u4e2d\u9593\u90e8\u300d\u306e\u6b20\u5931\u3067\u3042\u308a\u3001\u81e8\u5e8a\u50cf\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>9\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e9\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u3001\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff08\u67d3\u8272\u4f53\u306e\u304f\u3073\u308c\u90e8\u5206\uff09\u306b\u8fd1\u3044**\u300c13\u300d**\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff089p13.1\u301c9p13.3\uff09\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\u300c\u8fd1\u4f4d\u6b20\u5931\u300d\u306e\u7279\u5fb4\u3011<\/p>\n\n\n\n<p>9\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u306f\u3001\u6b20\u5931\u3059\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u672b\u7aef\u6b20\u5931\uff089p24-p22\uff09\uff1a<\/strong> \u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\u3002\u4e09\u89d2\u982d\u84cb\u3001\u6027\u5206\u5316\u75be\u60a3\u304c\u7279\u5fb4\u3002<\/li>\n\n\n\n<li><strong>\u8fd1\u4f4d\u6b20\u5931\uff089p13\uff09\uff1a\u672c\u75be\u60a3<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u4e2d\u9593\u90e8\u5206\u304c\u629c\u3051\u308b\u300c\u4e2d\u9593\u6b20\u5931\uff08Interstitial deletion\uff09\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u795e\u7d4c\u4f1d\u9054\u3084\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672b\u7aef\u6b20\u5931\u306e\u3088\u3046\u306a\u6d3e\u624b\u306a\u8eab\u4f53\u5947\u5f62\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u5b50\u306f\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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>9p13\u9818\u57df\uff08\u7279\u306b9p13.3\uff09\u306b\u306f\u907a\u4f1d\u5b50\u304c\u9ad8\u5bc6\u5ea6\u306b\u5b58\u5728\u3057\u3066\u304a\u308a\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u75c7\u72b6\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>UNC13B (Unc-13 Homolog B):<\/strong> 9p13.3\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u306e\u4e00\u3064\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u8133\u306e\u30b7\u30ca\u30d7\u30b9\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u653e\u51fa\u3092\u8abf\u7bc0\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u306f\u3001<strong>\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d\u3084\u300c\u77e5\u7684\u969c\u5bb3\u300d<\/strong>\u3001**\u300c\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u300d**\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u75c7\u306e\u30ea\u30b9\u30af\u3068\u5f37\u304f\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GALT (Galactose-1-Phosphate Uridylyltransferase):<\/strong> 9p13.3\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u30ac\u30e9\u30af\u30c8\u30fc\u30b9\uff08\u4e73\u7cd6\u306e\u6210\u5206\uff09\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u901a\u5e38\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u640d\uff08\u4e21\u65b9\u3060\u3081\u306b\u306a\u308b\u3053\u3068\uff09\u306f\u300c\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>9p13\u6b20\u5931\u3067\u306f\u7247\u65b9\u3060\u3051\u6b20\u5931\uff08\u4fdd\u56e0\u8005\u72b6\u614b\uff09\u3059\u308b\u305f\u3081\u3001\u901a\u5e38\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3082\u3046\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u8efd\u5fae\u306a\u5909\u7570\uff08Duarte\u5909\u7570\u306a\u3069\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u9175\u7d20\u6d3b\u6027\u304c\u4f4e\u4e0b\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>STOML2 \/ RNF38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5236\u5fa1\u306b\u95a2\u308f\u308a\u3001\u767a\u9054\u9045\u6ede\u3078\u306e\u95a2\u4e0e\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CNTNAP3 \/ CNTNAP3B:<\/strong>\n<ul class=\"wp-block-list\">\n<li>9p13.1\u4ed8\u8fd1\u306b\u4f4d\u7f6e\u3002\u81ea\u9589\u75c7\u95a2\u9023\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u308bCNTNAP\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u793e\u4f1a\u6027\u767a\u9054\u306b\u95a2\u4e0e\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>9\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u6b20\u5931\uff08\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\uff09\u306f\u6bd4\u8f03\u7684\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\uff085\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\uff09\u3001\u3053\u306e\u300c9p13\u8fd1\u4f4d\u6b20\u5931\u300d\u306f\u5831\u544a\u6570\u304c\u5c11\u306a\u304f\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u898f\u6a21\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7279\u5fb4\u304c\u76ee\u7acb\u305f\u306a\u3044:<\/strong> \u4e09\u89d2\u982d\u84cb\u306e\u3088\u3046\u306a\u660e\u3089\u304b\u306a\u5947\u5f62\u304c\u306a\u3044\u305f\u3081\u3001\u300c\u5c11\u3057\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306a\u5b50\u300d\u300c\u500b\u6027\u7684\u306a\u9854\u7acb\u3061\u306e\u5b50\u300d\u3068\u3057\u3066\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u306e\u58c1:<\/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\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/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>9p13 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u8eab\u4f53\u7684\u306a\u5947\u5f62\u3088\u308a\u3082\u3001**\u300c\u795e\u7d4c\u767a\u9054\uff08\u77e5\u80fd\u30fb\u8a00\u8449\u30fb\u793e\u4f1a\u6027\uff09\u300d**\u306b\u91cd\u304d\u304c\u7f6e\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u9854\u3064\u304d\u304c\u666e\u901a\u306a\u306e\u3067\u3001\u306a\u305c\u767a\u9054\u304c\u9045\u308c\u3066\u3044\u308b\u306e\u304b\u5206\u304b\u3089\u306a\u304b\u3063\u305f\u300d\u3068\u3044\u3046\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd\uff08Neurodevelopmental features\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\uff08\u6642\u306b\u91cd\u5ea6\uff09\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 \/ \u5168\u4f53\u7684\u306a\u767a\u9054\u9045\u6ede\uff08GDD\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>\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\uff09\u3088\u308a\u3082\u3001\u77e5\u7684\u306a\u767a\u9054\u3084\u8a00\u8449\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9855\u8457\u306a\u7279\u5fb4<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u59cb\u8a9e\uff08\u521d\u3081\u3066\u306e\u8a00\u8449\uff09\u304c\u9045\u3044\u3001\u8a9e\u5f59\u304c\u5c11\u306a\u3044\u3001\u6587\u7ae0\u3067\u8a71\u3059\u306e\u304c\u82e6\u624b\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u8868\u51fa\uff08\u8a71\u3059\u3053\u3068\uff09\u3060\u3051\u3067\u306a\u304f\u3001\u7406\u89e3\uff08\u805e\u304f\u3053\u3068\uff09\u3082\u3086\u3063\u304f\u308a\u306a\u5834\u5408\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>\u77e5\u7684\u969c\u5bb3\u304c\u8efd\u5ea6\u306e\u5834\u5408\u3067\u3082\u3001\u8aad\u307f\u66f8\u304d\u3084\u8a08\u7b97\u306a\u3069\u306b\u7279\u7570\u7684\u306a\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>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3084\u5b66\u6821\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u306b\u304a\u3044\u3066\u3001\u6700\u3082\u7406\u89e3\u304c\u5fc5\u8981\u306a\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>9p13\u6b20\u5931\u60a3\u8005\u3055\u3093\u306e<strong>\u534a\u6570\u4ee5\u4e0a<\/strong>\u306b\u898b\u3089\u308c\u308b\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u5bfe\u4eba\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u82e6\u624b\u3001\u611f\u899a\u904e\u654f\uff08\u8074\u899a\u30fb\u89e6\u899a\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><em>UNC13B<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\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>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3001\u591a\u52d5\u3001\u885d\u52d5\u6027\u3001\u4e0d\u6ce8\u610f\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u304b\u3093\u3057\u3083\u304f\u3001\u7761\u7720\u969c\u5bb3\uff08\u5bdd\u4ed8\u304d\u304c\u60aa\u3044\u3001\u4e2d\u9014\u899a\u9192\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u7570\u7684\u9854\u8c8c\u300d\u3068\u3055\u308c\u307e\u3059\u304c\u30019p\u672b\u7aef\u6b20\u5931\uff08\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\uff09\u307b\u3069\u7279\u5fb4\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u4e21\u89aa\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\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><strong>\u773c\u9593\u958b\u96e2\uff08Hypertelorism\uff09\uff1a<\/strong> \u76ee\u3068\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u307e\u305f\u306f\u659c\u4e0a\uff08\u30c4\u30ea\u76ee\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3002<\/li>\n\n\n\n<li>\u77ed\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3001\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u7570\u5e38\u3001\u8033\u4ecb\u306e\u5909\u5f62\uff08\u7acb\u3061\u8033\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u3084\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u306e\u3069\u3061\u3089\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u4e00\u5b9a\u3057\u3066\u3044\u307e\u305b\u3093\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\u4f53\u91cd\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5e7c\u5150\u671f\u4ee5\u964d\u306b\u4f4e\u8eab\u9577\uff08Short stature\uff09\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9006\u306b\u3001\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u306e\u5831\u544a\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u306f\u7a00\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u5408\u4f75\u75c7\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u899a\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\uff08\u4f1d\u97f3\u6027\u307e\u305f\u306f\u611f\u97f3\u6027\uff09\u3002<\/li>\n\n\n\n<li>\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u4e71\u8996\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u6307\u306e\u5fae\u7d30\u306a\u7570\u5e38\uff08\u77ed\u6307\u75c7\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u30019p\u672b\u7aef\u6b20\u5931\uff08\u6027\u5206\u5316\u75be\u60a3\uff09\u307b\u3069\u91cd\u5ea6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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>9\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff089p13\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<\/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>9p13\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3084\u300c\u9006\u4f4d\u300d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u89aa\u81ea\u8eab\u3082\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u304c\u3001\u75c7\u72b6\u304c\u6975\u3081\u3066\u8efd\u304f\uff08\u5b66\u7fd2\u969c\u5bb3\u7a0b\u5ea6\uff09\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u3082\u7a00\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>UNC13B<\/em>\u306a\u3069\u306e\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u30012\u672c\u3042\u308b\u3046\u3061\u306e1\u672c\u6b20\u3051\u3066\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\uff08\u30b7\u30ca\u30d7\u30b9\uff09\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u8abf\u6574\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001ASD\u3084\u77e5\u7684\u969c\u5bb3\u3068\u3057\u3066\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u30ea\u30b9\u30af\uff08GALT\u907a\u4f1d\u5b50\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>9p13.3\u306b\u306f\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50<em>GALT<\/em>\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306b\u3088\u308a\u3001\u60a3\u8005\u3055\u3093\u306f\u81ea\u52d5\u7684\u306b\u300c\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u306f\u4fdd\u56e0\u8005\u3067\u3042\u308c\u3070\u767a\u75c7\u3057\u307e\u305b\u3093\u304c\u3001\u3082\u3057\u6b8b\u3063\u3066\u3044\u308b\u3082\u3046\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u8efd\u5fae\u306a\u5909\u7570\uff08Duarte\u5909\u7570\u306a\u3069\u3001\u4e00\u822c\u4eba\u53e3\u306b\u3082\u6570%\u5b58\u5728\u3059\u308b\uff09\u304c\u3042\u3063\u305f\u5834\u5408\u3001\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\uff08\u4e73\u88fd\u54c1\uff09\u306e\u4ee3\u8b1d\u80fd\u529b\u304c\u4f4e\u4e0b\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u5ff5\u306e\u305f\u3081\u3001\u8a3a\u65ad\u6642\u306b\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u4ee3\u8b1d\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\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>\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u81ea\u9589\u50be\u5411\u300d\u300c\u8efd\u5ea6\u306e\u9854\u8c8c\u7279\u5fb4\u300d\u304c\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u539f\u56e0\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\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\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>9p13\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>UNC13B<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u672b\u7aef\u6b20\u5931\uff08\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\uff09\u3068\u306e\u9451\u5225\u3082\u78ba\u5b9f\u306b\u884c\u3048\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>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u4e21\u89aa\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u529b\u30fb\u8996\u529b\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u306e\u539f\u56e0\u3068\u3057\u3066\u3001\u96e3\u8074\u3084\u8996\u529b\u969c\u5bb3\u304c\u96a0\u308c\u3066\u3044\u306a\u3044\u304b\u78ba\u8a8d\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>\u6b20\u5931\u3057\u305f\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u6700\u5927\u9650\u306b\u4fc3\u3059**\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09**\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\uff08\u6700\u512a\u5148\uff09<\/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\u65e9\u671f\u304b\u3089\u7642\u80b2\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u304c\u4e88\u5f8c\u3092\u826f\u304f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u8a9e\u5f59\u3092\u5897\u3084\u3059\u8a13\u7df4\u3084\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u610f\u6b32\u3092\u9ad8\u3081\u308b\u904a\u3073\u3092\u53d6\u308a\u5165\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6d3b\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u899a\u904e\u654f\uff08\u97f3\u3084\u89e6\u899a\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u306b\u5bfe\u3057\u3001\u5fae\u7d30\u904b\u52d5\u306e\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306e\u7279\u6027\u306b\u5bfe\u3057\u3001\u96c6\u56e3\u751f\u6d3b\u306e\u30eb\u30fc\u30eb\u3084\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c31\u5b66\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084ASD\u7279\u6027\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u5b66\u7d1a\u306b\u901a\u3046\u5834\u5408\u3067\u3082\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3092\u5229\u7528\u3057\u305f\u308a\u3001\u8996\u899a\u7684\u306a\u652f\u63f4\uff08\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u8868\u306a\u3069\uff09\u3092\u53d6\u308a\u5165\u308c\u305f\u308a\u3059\u308b\u914d\u616e\u304c\u6709\u52b9\u3067\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\uff08\u8eab\u9577\u30fb\u4f53\u91cd\uff09\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3002<\/li>\n\n\n\n<li>\u8074\u529b\u30fb\u8996\u529b\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u30c1\u30a7\u30c3\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5ff5\u306e\u305f\u3081\u3001\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u30ab\u30d0\u30fc\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u518d\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff09\u3092\u884c\u3044\u3001\u554f\u984c\u304c\u3042\u308c\u3070\u4e73\u88fd\u54c1\u306e\u5236\u9650\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u98df\u4e8b\u5236\u9650\u4e0d\u8981\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>\u300c9p\u6b20\u5931\u300d\u3068\u691c\u7d22\u3059\u308b\u3068\u3001\u75c7\u72b6\u306e\u91cd\u3044\u300c\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\uff08\u4e09\u89d2\u982d\u84cb\uff09\u300d\u306e\u60c5\u5831\u304c\u51fa\u3066\u304d\u3066\u4e0d\u5b89\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u5834\u6240\u304c\u9055\u3046\uff08\u8fd1\u4f4d\u6b20\u5931\u3067\u3042\u308b\uff09\u300d\u3053\u3068\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u904e\u5ea6\u306a\u4e0d\u5b89\u3092\u53d6\u308a\u9664\u304d\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\u304c\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408\u306e\u6b21\u5b50\u30ea\u30b9\u30af\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\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>9p13 microdeletion syndrome\u306f\u30019\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u6709\u540d\u306a\u300c9p-\u75c7\u5019\u7fa4\uff08\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\uff09\u300d\u3068\u306f\u7570\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u4e09\u89d2\u982d\u84cb\u306e\u3088\u3046\u306a\u76ee\u7acb\u3064\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306f\u5c11\u306a\u304f\u3001\u4e00\u898b\u3059\u308b\u3068\u300c\u5c11\u3057\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306a\u304a\u5b50\u3055\u3093\u300d\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u304b\u3063\u305f\u308a\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u304b\u3063\u305f\u308a\uff08\u81ea\u9589\u50be\u5411\uff09\u3001\u7279\u5b9a\u306e\u97f3\u3084\u611f\u89e6\u3092\u5acc\u304c\u3063\u305f\u308a\uff08\u611f\u899a\u904e\u654f\uff09\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u300c\u898b\u305f\u76ee\u306f\u666e\u901a\u306a\u306e\u306b\u3001\u306a\u305c\u8a00\u8449\u304c\u51fa\u306a\u3044\u306e\uff1f\u300d\u300c\u306a\u305c\u3053\u3093\u306a\u306b\u80b2\u3066\u306b\u304f\u3044\u306e\uff1f\u300d\u3068\u3044\u3046\u60a9\u307f\u306f\u3001\u8a3a\u65ad\u304c\u3064\u304f\u307e\u3067\u9577\u304f\u7d9a\u304f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3053\u3068\u306f\u3001\u304a\u5b50\u3055\u3093\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306e\u5927\u304d\u306a\u4e00\u6b69\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u308f\u304c\u307e\u307e\u300d\u3084\u300c\u3057\u3064\u3051\u306e\u554f\u984c\u300d\u3067\u306f\u306a\u304f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3067\u3001\u8133\u306e\u60c5\u5831\u51e6\u7406\u306e\u4ed5\u65b9\u304c\u5c11\u3057\u30e6\u30cb\u30fc\u30af\uff08\u500b\u6027\u7684\uff09\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u304c\u5206\u304b\u308c\u3070\u3001\u5bfe\u7b56\u304c\u7acb\u3066\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u7df4\u7fd2\u3092\u3057\u305f\u308a\u3001\u5b89\u5fc3\u3067\u304d\u308b\u74b0\u5883\u3092\u6574\u3048\u305f\u308a\u3001\u611f\u899a\u904e\u654f\u306b\u914d\u616e\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u751f\u304d\u3084\u3059\u304f\u306a\u308a\u3001\u6301\u3066\u308b\u529b\u3092\u767a\u63ee\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5fc3\u81d3\u75c5\u306a\u3069\u306e\u5185\u81d3\u5408\u4f75\u75c7\u306f\u5c11\u306a\u304f\u3001\u8eab\u4f53\u7684\u306b\u306f\u5065\u5eb7\u306b\u904e\u3054\u305b\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u3082\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3092\u5927\u5207\u306b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u5fc3\u7406\u58eb\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\u8c4a\u304b\u306a\u5185\u9762\u3068\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>Fukushima, H., et al.<\/strong> (2017). <em>Microdeletion of 9p13.3 associated with intellectual disability, autism spectrum disorder, and facial dysmorphism.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b9p13.3\u6b20\u5931\u304c\u77e5\u7684\u969c\u5bb3\u3084ASD\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3092\u3001UNC13B\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u95a2\u9023\u4ed8\u3051\u3066\u8a73\u7d30\u306b\u5831\u544a\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u7406\u89e3\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Raca, G., et al.<\/strong> (2004). <em>A case of proximal 9p deletion associated with mild developmental delay and dysmorphic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8fd1\u4f4d9p\u6b20\u5931\u306e\u81e8\u5e8a\u50cf\uff08\u8efd\u5ea6\u767a\u9054\u9045\u6ede\u3068\u8efd\u5fae\u306a\u9854\u8c8c\u7570\u5e38\uff09\u3092\u5831\u544a\u3057\u3001\u672b\u7aef\u6b20\u5931\uff08\u30a2\u30eb\u30d5\u30a3\u75c7\u5019\u7fa4\uff09\u3068\u306e\u9055\u3044\u3092\u660e\u78ba\u306b\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Willemsen, M.H., et al.<\/strong> (2006). <em>Chromosome 9p deletion syndrome: A case report and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b9p\u6b20\u5931\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u30ec\u30d3\u30e5\u30fc\u306e\u4e2d\u3067\u3001\u8fd1\u4f4d\u6b20\u5931\u306e\u8868\u73fe\u578b\u306b\u3064\u3044\u3066\u8a00\u53ca\u3057\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u3092\u8003\u5bdf\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>9p deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u672b\u7aef\u6b20\u5931\u3068\u8fd1\u4f4d\u6b20\u5931\u306e\u9055\u3044\u3001\u767a\u9054\u306e\u7279\u5fb4\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>9p13.3 deletion<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u30fb\u91cd\u8907\u306b\u95a2\u3059\u308b\u56fd\u969b\u7684\u306a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u30029p13\u9818\u57df\u306e\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u75c7\u72b6\uff08ID, ASD, \u8a00\u8a9e\u9045\u6ede\u306a\u3069\uff09\u306e\u7d71\u8a08\u30c7\u30fc\u30bf\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae<\/strong>: <em>Galactosemia<\/em>. (For GALT gene reference).\n<ul class=\"wp-block-list\">\n<li>(\u203b9p13.3\u306b\u542b\u307e\u308c\u308bGALT\u907a\u4f1d\u5b50\u306e\u6b20\u640d\u306b\u3088\u308b\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306b\u3064\u3044\u3066\u306e\u60c5\u5831\u3002\u4fdd\u56e0\u8005\u8a3a\u65ad\u306e\u6587\u8108\u3067\u53c2\u7167\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-17202","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\/17202","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\/17202\/revisions"}],"predecessor-version":[{"id":17204,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17202\/revisions\/17204"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17202"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}