{"id":17107,"date":"2026-01-21T06:42:06","date_gmt":"2026-01-21T06:42:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17107"},"modified":"2026-01-21T06:42:31","modified_gmt":"2026-01-21T06:42:31","slug":"6pter-p24-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/6pter-p24-deletion-syndrome\/","title":{"rendered":"6pter-p24 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>6p-\u75c7\u5019\u7fa4\uff086p minus syndrome \/ 6p deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6700\u3082\u4e00\u822c\u7684\u306a\u547c\u79f0\u3067\u3059\u30026\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u3092\u7dcf\u79f0\u3059\u308b\u8a00\u8449\u3067\u3059\u304c\u3001\u305d\u306e\u591a\u304f\u306f\u3053\u306e6pter-p24\u9818\u57df\u3092\u542b\u307f\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>6p\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>6\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff08Terminal 6p deletion syndrome\uff09<\/li>\n\n\n\n<li>6pter-p24\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 6pter-p24\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\uff08Axenfeld-Rieger syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3067\u3042\u308b\u773c\u5947\u5f62\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>FOXC1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u81e8\u5e8a\u50cf\u304c\u91cd\u8907\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30ea\u30c3\u30c1\u30e3\u30fc\u30fb\u30b7\u30f3\u30c4\u30a7\u30eb\u75c7\u5019\u7fa4\uff08Ritscher-Schinzel syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b6p25\u9818\u57df\u306e\u6b20\u5931\u3068\u75c7\u72b6\u304c\u985e\u4f3c\u3059\u308b\u305f\u3081\u3001\u9451\u5225\u3084\u95a2\u9023\u75be\u60a3\u3068\u3057\u3066\u6319\u3052\u3089\u308c\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>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u672b\u7aef\uff08ter\uff09\u304b\u308924\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u3001<strong>\u4e00\u756a\u7aef\u3063\u3053\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff1apter\uff09\u304b\u3089\u3001\u30d0\u30f3\u30c924\uff08p24\uff09\u307e\u3067\u306e\u9818\u57df<\/strong>\u304c\u9023\u7d9a\u3057\u3066\u6b20\u5931\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3011<\/p>\n\n\n\n<p>\u300c6pter-p24\u300d\u3068\u3044\u3046\u8868\u8a18\u306f\u3001\u67d3\u8272\u4f53\u306e\u5148\u7aef\u90e8\u5206\u304c\u7d0410Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u4ee5\u4e0a\u306b\u308f\u305f\u3063\u3066\u5931\u308f\u308c\u3066\u3044\u308b\uff08Terminal deletion\uff1a\u672b\u7aef\u6b20\u5931\uff09\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7bc4\u56f2\u306b\u306f\u3001\u8133\u3001\u773c\u3001\u5fc3\u81d3\u3001\u982d\u84cb\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u591a\u6570\u4e26\u3093\u3067\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u591a\u69d8\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d**\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u300cp25\u306e\u307f\uff08\u5148\u7aef\u3060\u3051\uff09\u6b20\u3051\u3066\u3044\u308b\u300d\u5834\u5408\u3088\u308a\u3082\u3001\u300cp24\u307e\u3067\u5927\u304d\u304f\u6b20\u3051\u3066\u3044\u308b\u300d\u672c\u75be\u60a3\u306e\u65b9\u304c\u3001\u75c7\u72b6\u306e\u7a2e\u985e\u304c\u591a\u304f\u3001\u91cd\u75c7\u5ea6\u3082\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FOXC1 (Forkhead Box C1):<\/strong> 6p25.3\u306b\u4f4d\u7f6e\u3002\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>\u773c\u306e\u524d\u773c\u90e8\uff08\u89d2\u819c\u3084\u8679\u5f69\uff09\u3001\u8133\uff08\u5c0f\u8133\uff09\u3001\u9aa8\u683c\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u30de\u30b9\u30bf\u30fc\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001**\u300c\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u5947\u5f62\uff08\u7dd1\u5185\u969c\u30ea\u30b9\u30af\uff09\u300d<strong>\u3084<\/strong>\u300c\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\u300d**\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FOXF2 (Forkhead Box F2):<\/strong> 6p25.3\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li>\u53e3\u84cb\uff08\u53e3\u306e\u5929\u4e95\uff09\u306e\u5f62\u6210\u3084\u3001\u8133\u8840\u7ba1\u306e\u5b89\u5b9a\u6027\u306b\u95a2\u308f\u308a\u307e\u3059\u3002\u53e3\u84cb\u88c2\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SERPINB6:<\/strong> \u8074\u899a\u306b\u95a2\u4e0e\u3057\u3001\u96e3\u8074\u306e\u30ea\u30b9\u30af\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>TUBB2A \/ TUBB2B:<\/strong> \u8133\u306e\u76ae\u8cea\u5f62\u6210\u306b\u95a2\u308f\u308a\u3001\u795e\u7d4c\u767a\u9054\u9045\u6ede\u306e\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/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>\u5e83\u7fa9\u306e\u300c6p-\u75c7\u5019\u7fa4\u300d\u5168\u4f53\u3068\u3057\u3066\u306f\u3001\u51fa\u751f\u6570\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u30016pter-p24\u3068\u3044\u3046\u7279\u5b9a\u306e\u6b20\u5931\u7bc4\u56f2\u306b\u9650\u308b\u3068\u3001\u3055\u3089\u306b\u5e0c\u5c11\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b\u4e16\u754c\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u306f100\u4f8b\u3092\u8d85\u3048\u3066\u3044\u307e\u3059\u304c\u3001\u6c7a\u3057\u3066\u591a\u3044\u75be\u60a3\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\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>6pter-p24 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u773c\u306e\u5f62\u6210\u7570\u5e38\u300d\u300c\u8133\u30fb\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u304c4\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u773c\u3068\u8133\u306e\u5408\u4f75\u75c7\u306f\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u7403\u30fb\u8996\u899a\u306e\u7570\u5e38\uff08Ocular anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u6ce8\u610f\u3059\u3079\u304d\u3001\u304b\u3064\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002\u60a3\u8005\u3055\u3093\u306e\u7d04\u534a\u6570\u301c8\u5272\u7a0b\u5ea6\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u5947\u5f62\uff08Axenfeld-Rieger anomaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u306e\u300c\u524d\u773c\u90e8\u300d\u3068\u547c\u3070\u308c\u308b\u90e8\u5206\uff08\u89d2\u819c\u3001\u8679\u5f69\u3001\u9685\u89d2\uff09\u306e\u767a\u9054\u4e0d\u5168\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f8c\u90e8\u80ce\u751f\u74b0:<\/strong> \u89d2\u819c\u306e\u7e01\u306b\u767d\u3044\u30ea\u30f3\u30b0\u72b6\u306e\u7dda\u304c\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8679\u5f69\u306e\u7570\u5e38:<\/strong> \u8336\u76ee\uff08\u8679\u5f69\uff09\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u305f\u308a\uff08\u4f4e\u5f62\u6210\uff09\u3001\u77b3\u5b54\u306e\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3044\u305f\u308a\uff08\u77b3\u5b54\u504f\u4f4d\uff09\u3001\u77b3\u5b54\u304c\u8907\u6570\u3042\u3063\u305f\u308a\uff08\u591a\u77b3\u5b54\u75c7\uff09\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7dd1\u5185\u969c\uff08Glaucoma\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u30ea\u30b9\u30af<\/strong>\u3067\u3059\u3002\u524d\u773c\u90e8\u306e\u5f62\u6210\u4e0d\u5168\u306b\u3088\u308a\u3001\u773c\u306e\u4e2d\u306e\u6c34\uff08\u623f\u6c34\uff09\u306e\u6392\u51fa\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u773c\u5727\u304c\u4e0a\u304c\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u5c0f\u5150\u671f\u301c\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u653e\u7f6e\u3059\u308b\u3068\u8996\u795e\u7d4c\u304c\u50b7\u3064\u304d\u5931\u660e\u306b\u81f3\u308b\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u5b9a\u671f\u691c\u8a3a\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3001\u773c\u632f\u3001\u5c0f\u773c\u7403\u75c7\u3001\u767d\u5185\u969c\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8133\u30fb\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\uff08Brain anomalies\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\uff08Dandy-Walker malformation\uff09 \/ \u5909\u7570\u578b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u8133\uff08\u904b\u52d5\u3084\u30d0\u30e9\u30f3\u30b9\u3092\u53f8\u308b\u90e8\u5206\uff09\u306e\u4e00\u90e8\u304c\u6b20\u640d\u3057\u3001\u5f8c\u982d\u90e8\u306b\u56a2\u80de\uff08\u6c34\u305f\u307e\u308a\uff09\u304c\u3067\u304d\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u306e\u60aa\u3055\uff08\u5931\u8abf\uff09\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6c34\u982d\u75c7\uff08Hydrocephalus\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5ba4\u306b\u9ac4\u6db2\u304c\u6e9c\u307e\u308a\u3059\u304e\u3066\u8133\u3092\u5727\u8feb\u3059\u308b\u72b6\u614b\u3067\u3059\u3002\u30b7\u30e3\u30f3\u30c8\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u6881\u6b20\u640d\u30fb\u4f4e\u5f62\u6210:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u6a4b\uff08\u8133\u6881\uff09\u304c\u7d30\u3044\u3001\u307e\u305f\u306f\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767d\u8cea\u8133\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767d\u8cea\uff08\u795e\u7d4c\u7dda\u7dad\u306e\u675f\uff09\u306e\u767a\u9054\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001<em>FOXF2<\/em>\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\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>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff08GDD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u8133\u306e\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u3084\u3075\u3089\u3064\u304d\u304c\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u7406\u5b66\u7642\u6cd5\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u304cp24\u307e\u3067\u53ca\u3076\u5834\u5408\u3001p25\u306e\u307f\u306e\u6b20\u5931\u306b\u6bd4\u3079\u3066\u77e5\u7684\u969c\u5bb3\u304c\u91cd\u304f\u306a\u308b\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>\u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u3068\u3082\u306b\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96e3\u8074:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u97f3\u6027\u96e3\u8074\u307e\u305f\u306f\u4f1d\u97f3\u6027\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8a00\u8a9e\u767a\u9054\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c6p-\u9854\u8c8c\u300d\u3068\u547c\u3070\u308c\u308b\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u304f\u5e83\u3044\u984d\u3001\u5e73\u5766\u306a\u5f8c\u982d\u90e8\u3002<\/li>\n\n\n\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><strong>\u5e73\u5766\u306a\u9f3b\u6839\u90e8:<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li>\u77ed\u3044\u9f3b\u3001\u4e0a\u5411\u304d\u306e\u9f3b\u5b54\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3002<\/li>\n\n\n\n<li>\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u982d\u304c\u5c0f\u3055\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6c34\u982d\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u982d\u56f2\u304c\u5927\u304d\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u306a\u3069\uff08\u7d0430\u301c40%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u3001\u591a\u56a2\u80de\u814e\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong> \u6b6f\u304c\u5c0f\u3055\u3044\uff08\u77ee\u5c0f\u6b6f\uff09\u3001\u6b6f\u304c\u8db3\u308a\u306a\u3044\uff08\u6b20\u640d\u6b6f\uff09\u3002\u3053\u308c\u306f\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u9996\u304c\u77ed\u3044\u3001\u4f59\u5206\u306a\u76ae\u819a\uff08\u7ffc\u72b6\u9838\uff09\u3001\u6307\u306e\u7570\u5e38\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\uff086pter-p24\uff09\u306b\u304a\u3051\u308b\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>\u672c\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\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\uff08\u67d3\u8272\u4f53\u5207\u65ad\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u7531\u6765\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u304c\u6bd4\u8f03\u7684\u5927\u304d\u3044\u305f\u3081\u3001\u89aa\u306e**\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d**\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u306b\u7531\u6765\u3059\u308b\u30b1\u30fc\u30b9\u3082\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f8b\u3048\u3070\u3001\u89aa\u306e6\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u4ed6\u306e\u67d3\u8272\u4f53\u306b\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\uff08\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u91cd\u8907\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u75c7\u72b6\u306f\u3088\u308a\u8907\u96d1\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3082\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>FOX<\/em>\u907a\u4f1d\u5b50\u7fa4\u306f\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3067\u3042\u308a\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u76e3\u7763\u5f79\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u7247\u65b9\u306a\u304f\u306a\u308b\uff08\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\uff09\u3068\u3001\u773c\u3084\u8133\u3092\u4f5c\u308b\u305f\u3081\u306e\u6307\u4ee4\u304c\u4e0d\u5341\u5206\u306b\u306a\u308a\u3001\u8907\u96d1\u306a\u69cb\u9020\u7570\u5e38\uff08\u5947\u5f62\uff09\u304c\u751f\u3058\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\u773c\u306e\u7570\u5e38\uff08\u30ea\u30fc\u30ac\u30fc\u5947\u5f62\uff09\u300d\u300c\u5c0f\u8133\u306e\u7570\u5e38\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e3\u5fb4\u5019\u304b\u3089\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>6p\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\uff09\u3068\u3001<em>FOXC1<\/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>p24\u307e\u3067\u53ca\u3076\u5927\u304d\u306a\u6b20\u5931\u304b\u3001p25\u306e\u307f\u306e\u5fae\u7d30\u6b20\u5931\u304b\u3092\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u3001\u4e88\u5f8c\u4e88\u6e2c\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>G\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\uff08\u6838\u578b\u5206\u6790\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>6pter-p24\u306e\u3088\u3046\u306a\u5927\u304d\u306a\u6b20\u5931\u306e\u5834\u5408\u3001\u9855\u5fae\u93e1\u306b\u3088\u308b\u3053\u306e\u691c\u67fb\u3067\u3082\u8a3a\u65ad\u53ef\u80fd\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981:<\/strong> \u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001<strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb<\/strong>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u89aa\u306e\u8ee2\u5ea7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ \u30a8\u30b3\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306eMRI\u3067\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\u3084\u6c34\u982d\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u30a8\u30b3\u30fc\u3001\u8179\u90e8\u30a8\u30b3\u30fc\u3067\u5185\u81d3\u5947\u5f62\u3092\u30c1\u30a7\u30c3\u30af\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\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u7279\u306b\u300c\u773c\u300d\u3068\u300c\u8133\u300d\u306e\u5408\u4f75\u75c7\u306b\u5bfe\u3059\u308b\u65e9\u671f\u4ecb\u5165\u30fb\u7ba1\u7406\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u79d1\u7684\u7ba1\u7406\uff08\u751f\u6daf\u306b\u308f\u305f\u308b\u30b1\u30a2\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u6700\u3082\u91cd\u8981\u306a\u533b\u7642\u7684\u30b1\u30a2\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7dd1\u5185\u969c\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u5727\u691c\u67fb\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002\u4e73\u5e7c\u5150\u306f\u691c\u67fb\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u93ae\u9759\u4e0b\uff08\u7720\u3089\u305b\u3066\uff09\u3067\u306e\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u5727\u304c\u9ad8\u3044\u5834\u5408\u306f\u3001\u70b9\u773c\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3084\u3001\u624b\u8853\uff08\u7dda\u7dad\u67f1\u5e2f\u5207\u958b\u8853\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u306b\u3088\u308a\u3001\u8996\u529b\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c48\u6298\u77ef\u6b63:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f31\u8996\u3092\u9632\u3050\u305f\u3081\u3001\u773c\u93e1\u306a\u3069\u3067\u8996\u529b\u3092\u77ef\u6b63\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8133\u30fb\u795e\u7d4c\u7cfb\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6c34\u982d\u75c7\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5727\u4ea2\u9032\u75c7\u72b6\uff08\u5614\u5410\u3001\u4e0d\u6a5f\u5acc\u3001\u982d\u56f2\u62e1\u5927\u306a\u3069\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u30b7\u30e3\u30f3\u30c8\u624b\u8853\uff08\u4f59\u5206\u306a\u9ac4\u6db2\u3092\u304a\u8179\u306b\u6d41\u3059\u624b\u8853\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u8133\u7570\u5e38\u306b\u3088\u308b\u30d0\u30e9\u30f3\u30b9\u306e\u60aa\u3055\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u8eab\u4f53\u6a5f\u80fd\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a\u30fb\u8a00\u8a9e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3084\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u3001\u8a00\u8a9e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\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<\/ul>\n\n\n\n<p><strong>4. \u6b6f\u79d1\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u306e\u6b20\u640d\u3084\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u5f62\u6210\u4e0d\u5168\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u6b6f\u79d1\u691c\u8a3a\u3068\u866b\u6b6f\u4e88\u9632\u3001\u5c06\u6765\u7684\u306a\u77ef\u6b63\u6cbb\u7642\u3084\u7fa9\u6b6f\u306e\u76f8\u8ac7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u57fa\u3065\u304d\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u306e\u75c7\u72b6\u306a\u3069\u306f\u5bb6\u65cf\u5185\u3067\u8868\u73fe\u578b\uff08\u75c7\u72b6\u306e\u51fa\u65b9\uff09\u304c\u7570\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u8a73\u7d30\u306a\u5bb6\u7cfb\u5206\u6790\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\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>6pter-p24 deletion syndrome\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u90e8\u5206\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u7279\u306b\u300c\u76ee\u300d\u3068\u300c\u8133\u300d\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u3084\u3059\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f\u3001\u773c\u306e\u4e2d\u306e\u6c34\u306e\u51fa\u53e3\u304c\u72ed\u304f\u306a\u308a\u3084\u3059\u304f\uff08\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u5947\u5f62\uff09\u3001\u5c06\u6765\u7684\u306b\u7dd1\u5185\u969c\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5c0f\u8133\u306e\u5f62\u306b\u7279\u5fb4\u304c\u3042\u3063\u305f\u308a\uff08\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\uff09\u3001\u6c34\u982d\u75c7\u3092\u5408\u4f75\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u3053\u3046\u3057\u305f\u5408\u4f75\u75c7\u306e\u540d\u524d\u306f\u8033\u6163\u308c\u305a\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u91cd\u8981\u306a\u306e\u306f\u300c\u30ea\u30b9\u30af\u3092\u77e5\u3063\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7dd1\u5185\u969c\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u3053\u3068\u3092\u77e5\u3063\u3066\u3044\u308c\u3070\u3001\u75c7\u72b6\u304c\u51fa\u308b\u524d\u304b\u3089\u5b9a\u671f\u7684\u306b\u773c\u79d1\u306b\u901a\u3044\u3001\u773c\u5727\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u3067\u3001\u5927\u5207\u306a\u8996\u529b\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u6c34\u982d\u75c7\u3082\u3001\u9069\u5207\u306a\u624b\u8853\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u3067\u304d\u308b\u3053\u3068\u306f\u78ba\u5b9f\u306b\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b11\u9854\u304c\u53ef\u611b\u3089\u3057\u304f\u3001\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u533b\u3001\u8133\u795e\u7d4c\u5916\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u305d\u3057\u3066\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09\u3092\u7d9a\u3051\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\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>Gould, D.B., et al.<\/strong> (2004). <em>Role of FOXC1 in the development of the anterior segment and prevention of glaucoma.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6p25\u9818\u57df\u306b\u3042\u308bFOXC1\u907a\u4f1d\u5b50\u304c\u3001\u773c\u306e\u524d\u773c\u90e8\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u304c\u7dd1\u5185\u969c\u306e\u30ea\u30b9\u30af\u3068\u306a\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u89e3\u660e\u3057\u305f\u57fa\u790e\u7684\u306a\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Aldred, M.A., et al.<\/strong> (2004). <em>Molecular analysis of 20 patients with isolated aniridia or aniridia-like phenotypes.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u773c\u306e\u5947\u5f62\u3092\u6301\u3064\u60a3\u8005\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u884c\u3044\u30016p25\u6b20\u5931\u3068PAX6\u5909\u7570\u306a\u3069\u306e\u95a2\u9023\u3092\u691c\u8a0e\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mirchi, A., et al.<\/strong> (2020). <em>The 6p25 deletion syndrome: a review of the literature and report of a new case.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6p25\uff08\u304a\u3088\u3073p24\u3092\u542b\u3080\uff09\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u7279\u306b\u773c\u3001\u8133\u3001\u5fc3\u81d3\u306e\u5408\u4f75\u75c7\u306b\u3064\u3044\u3066\u7db2\u7f85\u7684\u306b\u30ec\u30d3\u30e5\u30fc\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Chitayat, D., et al.<\/strong> (2007). <em>6p25 deletion syndrome: a distinctive phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6p\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u773c\u5947\u5f62\u3001\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u8b58\u5225\u53ef\u80fd\u306a\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068\u3092\u81e8\u5e8a\u7684\u306b\u5b9a\u7fa9\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>6p deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u7dd1\u5185\u969c\u3078\u306e\u6ce8\u610f\u70b9\u3001\u767a\u9054\u306e\u76ee\u5b89\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>GeneReviews\u00ae [Internet]<\/strong>: <em>Axenfeld-Rieger Syndrome<\/em>. (For overlap symptoms).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u75c7\u72b6\u3067\u3042\u308b\u30a2\u30af\u30bb\u30f3\u30d5\u30a7\u30eb\u30c8\u30fb\u30ea\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u306e\u7ba1\u7406\u6307\u91dd\u3001\u7279\u306b\u773c\u79d1\u7684\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u306b\u3064\u3044\u3066\u306e\u53c2\u7167\u5143\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-17107","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\/17107","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\/17107\/revisions"}],"predecessor-version":[{"id":17109,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17107\/revisions\/17109"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17107"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}