{"id":17183,"date":"2026-01-21T08:04:43","date_gmt":"2026-01-21T08:04:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17183"},"modified":"2026-01-21T08:04:43","modified_gmt":"2026-01-21T08:04:43","slug":"8q21-11-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/8q21-11-deletion-syndrome\/","title":{"rendered":"8q21.11 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>8q21.11\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>8q21.11\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff088q21.11 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>8q21.11\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 8q21.11\uff09<\/li>\n\n\n\n<li>ZFHX4\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\uff08ZFHX4-related neurodevelopmental disorder\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u773c\u77bc\u4e0b\u5782\u3001\u77e5\u7684\u969c\u5bb3\u306a\u3069\uff09\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>ZFHX4<\/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\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>ZFHX4\u6b20\u5931\u75c7\u5019\u7fa4\uff08ZFHX4 deletion syndrome\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>8\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921.11\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e8\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c21.11\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\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>8q21.11\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u6c7a\u5b9a\u7684\u306a\u539f\u56e0\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aZFHX4\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ZFHX4 (Zinc Finger Homeobox 4):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u8133\u306e\u795e\u7d4c\u7d30\u80de\u3084\u7b4b\u8089\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3067\u3059\u3002\u7279\u306b\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u79fb\u52d5\u3057\u305f\u308a\uff08\u795e\u7d4c\u904a\u8d70\uff09\u3001\u5206\u5316\u3057\u305f\u308a\u3059\u308b\u904e\u7a0b\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\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\u8133\u306e\u767a\u9054\u3084\u9854\u9762\u306e\u7b4b\u8089\uff08\u7279\u306b\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u7b4b\u8089\uff09\u306e\u5f62\u6210\u306b\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3067\u3042\u308b**\u300c\u773c\u77bc\u4e0b\u5782\u300d<strong>\u3084<\/strong>\u300c\u77e5\u7684\u969c\u5bb3\u300d**\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3010\u305d\u306e\u4ed6\u306e\u95a2\u9023\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HEY1 (Hairy\/Enhancer-of-split Related with YRPW Motif 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u3084\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u306f\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u306a\u3069\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PEX2 (PXMP3):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5\uff08Zellweger\u75c7\u5019\u7fa4\u306a\u3069\uff09\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3059\u304c\u3001\u901a\u5e38\u306f\u52a3\u6027\u907a\u4f1d\uff08\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u30c0\u30e1\u306b\u306a\u3063\u3066\u767a\u75c7\uff09\u3059\u308b\u305f\u3081\u3001\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u7247\u65b9\u3060\u3051\u6b20\u5931\uff09\u306e\u5834\u5408\u306f\u4fdd\u56e0\u8005\u3068\u306a\u308b\u3060\u3051\u3067\u3001\u91cd\u7be4\u306a\u4ee3\u8b1d\u7570\u5e38\u306f\u51fa\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\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>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308a\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\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\uff08\u773c\u77bc\u4e0b\u5782\u306a\u3069\uff09\u304c\u3042\u308b\u305f\u3081\u3001\u4eca\u5f8c\u8a3a\u65ad\u6570\u306f\u5897\u3048\u3066\u3044\u304f\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\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>8q21.11 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u7279\u306b\u773c\u77bc\u4e0b\u5782\uff09\u300d\u300c\u77e5\u7684\u969c\u5bb3\u300d\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d**\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u751f\u307e\u308c\u3064\u304d\u76ee\u304c\u958b\u304d\u306b\u304f\u3044\u3068\u3044\u3046\u75c7\u72b6\u306f\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3059\u308b\u3001\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u77bc\u4e0b\u5782\uff08Ptosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u8c61\u5fb4\u7684\u306a\u7279\u5fb4<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7247\u5074\u307e\u305f\u306f\u4e21\u5074\u306e\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u304a\u308a\u3001\u76ee\u304c\u7d30\u304f\u898b\u3048\u305f\u308a\u3001\u7269\u3092\u898b\u308b\u6642\u306b\u984e\u3092\u4e0a\u3052\u305f\u308a\u3059\u308b\u4ed5\u8349\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>ZFHX4<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u3001\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u7b4b\u8089\uff08\u773c\u77bc\u6319\u7b4b\uff09\u3084\u795e\u7d4c\u306e\u767a\u9054\u4e0d\u5168\u304c\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e38\u3044\u9854\uff08Round face\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982c\u304c\u3075\u3063\u304f\u3089\u3068\u3057\u3066\u304a\u308a\u3001\u9854\u306e\u8f2a\u90ed\u304c\u4e38\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u9854\u8c8c\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77ed\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3001\u4e0a\u5507\u306e\u5c71\uff08\u30ad\u30e5\u30fc\u30d4\u30c3\u30c9\u5f13\uff09\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u308b\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u5e83\u3044\u9f3b\u6839\u90e8\u3001\u9f3b\u7ffc\uff08\u5c0f\u9f3b\uff09\u306e\u4f4e\u5f62\u6210\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u304c\u7a81\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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\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 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001<strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6<\/strong>\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7372\u5f97\u3084\u3001\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\u306a\u3069\uff09\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7406\u89e3\u529b\u306f\u6bd4\u8f03\u7684\u826f\u597d\u306a\u3053\u3068\u304c\u591a\u304f\u3001\u30cb\u30b3\u30cb\u30b3\u3068\u3057\u305f\u611b\u60f3\u306e\u826f\u3044\u6027\u683c\u3067\u3042\u308b\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3001\u304a\u5ea7\u308a\u3084\u6b69\u884c\u306e\u7372\u5f97\u306b\u6642\u9593\u3092\u8981\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u304c\u5f31\u304f\u3001\u6b69\u304d\u59cb\u3081\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u773c\u306e\u7570\u5e38\uff08Ocular anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u773c\u77bc\u4e0b\u5782\u4ee5\u5916\u306b\u3082\u3001\u773c\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u659c\u8996\uff08Strabismus\uff09\uff1a<\/strong> \u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u5c48\u6298\u7570\u5e38:<\/strong> \u9ad8\u5ea6\u8fd1\u8996\u3084\u9060\u8996\u3001\u4e71\u8996\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u773c\u7403\u75c7\u30fb\u5f37\u819c\u5316\u89d2\u819c:<\/strong> \u7a00\u306b\u3001\u773c\u7403\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u9ed2\u76ee\uff08\u89d2\u819c\uff09\u306e\u4e00\u90e8\u304c\u767d\u76ee\uff08\u5f37\u819c\uff09\u306e\u3088\u3046\u306b\u767d\u304f\u6fc1\u308b\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u306e\u884c\u52d5\uff08\u3053\u3060\u308f\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\uff09\u3001\u591a\u52d5\u3001\u6ce8\u610f\u6563\u6f2b\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8074\u899a\u904e\u654f\u3084\u3001\u7279\u5b9a\u306e\u97f3\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5165\u7720\u56f0\u96e3\u3084\u4e2d\u9014\u899a\u9192\u306a\u3069\u3001\u7761\u7720\u306e\u30ea\u30ba\u30e0\u304c\u6574\u3044\u306b\u304f\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u8074\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u97f3\u6027\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u6307\u304c\u66f2\u304c\u3063\u3066\u3044\u308b\uff08\u5c48\u6307\u75c7\uff09\u3001\u6307\u304c\u77ed\u3044\u3001\u7b2c3-4\u6307\u306e\u5408\u6307\u75c7\u306a\u3069\u3001\u8efd\u5fae\u306a\u9aa8\u683c\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u753b\u50cf\u6240\u898b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>MRI\u691c\u67fb\u3067\u3001\u8133\u6881\u306e\u4f4e\u5f62\u6210\u3084\u9ac4\u9798\u5316\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u7570\u7684\u306a\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u8efd\u5fae\u306a\u5fc3\u75be\u60a3\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08<em>HEY1<\/em>\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u304c\u7591\u308f\u308c\u3066\u3044\u307e\u3059\uff09\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\u9577\u8155\uff088q21.11\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>8q21.11\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u307b\u307c\u5168\u4f8b<\/strong>\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\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\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u75c7\u72b6\u306e\u8efd\u3044\uff08\u30e2\u30b6\u30a4\u30af\u306a\u3069\uff09\u4fdd\u56e0\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u30bc\u30ed\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u5ff5\u306e\u305f\u3081\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. ZFHX4\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u8cea\u7684\u306a\u539f\u56e0\u306f\u3001<em>ZFHX4<\/em>\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u3084\u7b4b\u8089\u3092\u4f5c\u308b\u305f\u3081\u306e\u300c\u6307\u4ee4\u300d\u304c\u91cf\u7684\u306b\u4e0d\u8db3\u3059\u308b\u305f\u3081\u3001\u773c\u77bc\u4e0b\u5782\u3084\u77e5\u7684\u969c\u5bb3\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u73fe\u308c\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\u77bc\u4e0b\u5782\u300d\u300c\u4e38\u3044\u9854\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u8a73\u7d30\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\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>8q21.11\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>ZFHX4<\/em>\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>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09 \/ \u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>ZFHX4<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5c0f\u3055\u306a\u70b9\u5909\u7570\uff08Loss-of-function variants\uff09\u3067\u3082\u3001\u672c\u75c7\u5019\u7fa4\u3068\u5168\u304f\u540c\u3058\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u3067\u3082\u3001\u75c7\u72b6\u304c\u5f37\u304f\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3053\u308c\u3089\u306e\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u77bc\u4e0b\u5782\u306e\u7a0b\u5ea6\u3001\u659c\u8996\u3001\u8996\u529b\u3001\u773c\u5e95\u691c\u67fb\u306a\u3069\u3092\u884c\u3044\u3001\u8996\u899a\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u3092\u8a55\u4fa1\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\u75c7\u72b6\uff08\u7279\u306b\u773c\u77bc\u4e0b\u5782\u3068\u767a\u9054\uff09\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u79d1\u7684\u6cbb\u7642\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u77bc\u4e0b\u5782\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u77b3\u5b54\uff08\u9ed2\u76ee\uff09\u3092\u8986\u3063\u3066\u3057\u307e\u3046\u3068\u3001\u8996\u529b\u306e\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u3001\u5f31\u8996\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u305f\u3081\u3001\u8996\u91ce\u3092\u78ba\u4fdd\u3059\u308b\u305f\u3081\u306b\u3001\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u624b\u8853\uff08\u540a\u308a\u4e0a\u3052\u8853\u306a\u3069\uff09\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u8853\u306e\u6642\u671f\u306f\u3001\u4e0b\u5782\u306e\u7a0b\u5ea6\u3084\u8996\u529b\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u8003\u616e\u3057\u3066\u773c\u79d1\u533b\u3068\u76f8\u8ac7\u3057\u3066\u6c7a\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8996\u529b\u77ef\u6b63:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u8996\u3084\u4e71\u8996\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u773c\u93e1\u3092\u88c5\u7528\u3057\u3066\u8996\u529b\u306e\u767a\u9054\u3092\u4fc3\u3057\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\u65e9\u671f\u304b\u3089\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>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u6b69\u884c\u3084\u59ff\u52e2\u4fdd\u6301\u306e\u5b89\u5b9a\u3092\u76ee\u6307\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\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\uff08\u9f3b\u306b\u58f0\u304c\u629c\u3051\u308b\uff09\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u305d\u306e\u6539\u5584\u8a13\u7df4\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\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\u8996\u899a\u7684\u306a\u652f\u63f4\uff08\u7d75\u30ab\u30fc\u30c9\u306a\u3069\uff09\u3092\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3082\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>\u8074\u899a\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88dc\u8074\u5668\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u984e\u75c7\u3084\u6b6f\u4e26\u3073\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u5b9a\u671f\u7684\u306a\u6b6f\u79d1\u691c\u8a3a\u3068\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u975e\u5e38\u306b\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308a\u3001\u65e5\u672c\u8a9e\u306e\u60c5\u5831\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u5bb6\u65cf\u306f\u5b64\u72ec\u611f\u3092\u611f\u3058\u3084\u3059\u3044\u305f\u3081\u3001\u6d77\u5916\u306e\u77e5\u898b\u3082\u542b\u3081\u305f\u6b63\u78ba\u306a\u60c5\u5831\u63d0\u4f9b\u3092\u884c\u3044\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>\u300c\u773c\u77bc\u4e0b\u5782\u306f\u624b\u8853\u3067\u6539\u5584\u3067\u304d\u308b\u3053\u3068\u300d\u300c\u3086\u3063\u304f\u308a\u3060\u304c\u767a\u9054\u306f\u9032\u3093\u3067\u3044\u304f\u3053\u3068\u300d\u306a\u3069\u3001\u30dd\u30b8\u30c6\u30a3\u30d6\u306a\u898b\u901a\u3057\u3092\u5171\u6709\u3057\u3001\u4e0d\u5b89\u3092\u8efd\u6e1b\u3057\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>8q21.11 deletion syndrome\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u307e\u3076\u305f\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308bZFHX4\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u3066\uff08\u773c\u77bc\u4e0b\u5782\uff09\u3001\u7720\u305f\u305d\u3046\u306a\u53ef\u611b\u3089\u3057\u3044\u8868\u60c5\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u307e\u305f\u3001\u304a\u9854\u304c\u4e38\u304f\u3001\u30cb\u30b3\u30cb\u30b3\u3068\u3057\u305f\u611b\u5b0c\u306e\u3042\u308b\u6027\u683c\u3067\u3042\u308b\u3053\u3068\u3082\u3088\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u76ee\u306e\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u3063\u305f\u308a\u3001\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u3001\u5927\u304d\u306a\u5fc3\u914d\u4e8b\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u773c\u77bc\u4e0b\u5782\u306f\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u3059\u308c\u3070\u3001\u8996\u91ce\u304c\u5e83\u304c\u308a\u3001\u8996\u529b\u3082\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u76ee\u304c\u30d1\u30c3\u30c1\u30ea\u3068\u958b\u304f\u3053\u3068\u3067\u3001\u8868\u60c5\u3082\u3088\u308a\u8c4a\u304b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u7b4b\u529b\u304c\u5f31\u3044\u305f\u3081\u306b\u904b\u52d5\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u901a\u3058\u3066\u7740\u5b9f\u306b\u529b\u3092\u3064\u3051\u3066\u3044\u304d\u307e\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u304c\u3042\u3063\u3066\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5185\u81d3\u306e\u75c5\u6c17\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u547d\u306b\u95a2\u308f\u308b\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u3067\u7814\u7a76\u304c\u9032\u3093\u3067\u304a\u308a\u3001ZFHX4\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3082\u89e3\u660e\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u533b\u3001\u5f62\u6210\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\u500b\u6027\u7684\u306a\u77b3\u304c\u898b\u3064\u3081\u308b\u672a\u6765\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>Palomares, M., et al.<\/strong> (2011). <em>Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b8q21.11\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u65b0\u305f\u306a\u75be\u60a3\u5358\u4f4d\u3068\u3057\u3066\u521d\u3081\u3066\u5b9a\u7fa9\u3057\u3001ZFHX4\u907a\u4f1d\u5b50\u304c\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u63d0\u5531\u3057\u305f\u3001\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vulto-van Silfhout, A.T., et al.<\/strong> (2013). <em>ZFHX4 mutations in patients with intellectual disability and ptosis.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bZFHX4\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u304c\u30018q21.11\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u540c\u3058\u75c7\u72b6\uff08\u77e5\u7684\u969c\u5bb3\u3001\u773c\u77bc\u4e0b\u5782\uff09\u3092\u5448\u3059\u308b\u3053\u3068\u3092\u793a\u3057\u3001ZFHX4\u304c\u8868\u73fe\u578b\u306e\u4e3b\u8981\u306a\u30c9\u30e9\u30a4\u30d0\u30fc\u3067\u3042\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Beriault, D.R., et al.<\/strong> (2012). <em>A novel 8q21.11 microdeletion identifies ZFHX4 as a candidate gene for ptosis and intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u773c\u77bc\u4e0b\u5782\u3068\u77e5\u7684\u969c\u5bb3\u3092\u6301\u3064\u60a3\u8005\u306b\u304a\u3044\u30668q21.11\u5fae\u7d30\u6b20\u5931\u3092\u540c\u5b9a\u3057\u3001ZFHX4\u306e\u6a5f\u80fd\uff08\u795e\u7d4c\u30fb\u7b4b\u767a\u9054\uff09\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u95a2\u9023\u3092\u8003\u5bdf\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>8q21 deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u773c\u77bc\u4e0b\u5782\u306e\u30b1\u30a2\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\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vergult, S., et al.<\/strong> (2024). <em>Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.<\/em> medRxiv.\n<ul class=\"wp-block-list\">\n<li>(\u203bZFHX4\u95a2\u9023\u969c\u5bb3\uff08\u6b20\u5931\u304a\u3088\u3073\u5909\u7570\uff09\u306e\u5927\u898f\u6a21\u306a\u30b3\u30db\u30fc\u30c8\u89e3\u6790\u3092\u884c\u3044\u3001\u8a73\u7d30\u306a\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u9854\u8c8c\u3001\u884c\u52d5\u7279\u6027\u306a\u3069\uff09\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u6700\u65b0\u306e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae \/ Orphanet<\/strong>: <em>8q21.11 microdeletion syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u304a\u3051\u308b\u75be\u60a3\u5b9a\u7fa9\u3068\u75ab\u5b66\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 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