{"id":16921,"date":"2026-01-21T02:26:05","date_gmt":"2026-01-21T02:26:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16921"},"modified":"2026-01-22T08:50:27","modified_gmt":"2026-01-22T08:50:27","slug":"20q13-33-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/20q13-33-microdeletion-syndrome\/","title":{"rendered":"20q13.33 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>20q13.33\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>20q13.33\u6b20\u5931\u75c7\u5019\u7fa4\uff0820q13.33 deletion syndrome\uff09<\/li>\n\n\n\n<li>20q13.33\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 20q13.33\uff09<\/li>\n\n\n\n<li>20\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0820q subtelomeric deletion syndrome\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aKCNQ2\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08KCNQ2-related developmental and epileptic encephalopathy\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u826f\u6027\u5bb6\u65cf\u6027\u65b0\u751f\u5150\u3066\u3093\u304b\u3093\uff08Benign Familial Neonatal Epilepsy; BFNE\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u3053\u308c\u3089\u306e\u75be\u60a3\u306f<em>KCNQ2<\/em>\u907a\u4f1d\u5b50\u306e\u300c\u5909\u7570\u300d\u3067\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306f\u305d\u306e\u300c\u6b20\u5931\u300d\u3067\u3042\u308b\u305f\u3081\u3001\u75c7\u72b6\u306b\u5171\u901a\u70b9\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>20\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0913.33\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e20\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c13.33\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>20\u756a\u67d3\u8272\u4f53\u306f\u6bd4\u8f03\u7684\u5c0f\u3055\u3044\u67d3\u8272\u4f53\u3067\u3059\u304c\u3001\u305d\u306e\u300c\u7aef\u3063\u3053\u300d\u3067\u3042\u308b20q13.33\u9818\u57df\u306f\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u9ad8\u304f\u3001\u8133\u306e\u6a5f\u80fd\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u304c\u96c6\u4e2d\u3057\u3066\u3044\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\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>\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3001\u7279\u306b\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u9045\u6ede\u306e\u5f62\u6210\u306b\u304a\u3044\u3066\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\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>KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u3042\u308b\u300c\u30ab\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\uff08Kv7.2\uff09\u300d\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u795e\u7d4c\u7d30\u80de\u304c\u8208\u596e\u3057\u305f\u5f8c\u3001\u8208\u596e\u3092\u93ae\u3081\u3066\u300c\u30d6\u30ec\u30fc\u30ad\u300d\u3092\u304b\u3051\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>KCNQ2<\/em>\u304c\u6b20\u5931\u3057\u3066\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304d\u306b\u304f\u304f\u306a\u308a\u3001\u795e\u7d4c\u304c\u904e\u5270\u306b\u8208\u596e\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c**\u300c\u3066\u3093\u304b\u3093\u767a\u4f5c\u300d**\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u53d7\u5bb9\u4f53\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u300c\u5e38\u67d3\u8272\u4f53\u512a\u6027\u591c\u9593\u524d\u982d\u8449\u3066\u3093\u304b\u3093\uff08ADNFLE\uff09\u300d\u306b\u95a2\u9023\u3059\u308b\u3053\u3068\u3067\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u672c\u75c7\u5019\u7fa4\u3067\u306f<em>KCNQ2<\/em>\u3068\u5171\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3066\u3093\u304b\u3093\u306e\u30ea\u30b9\u30af\u3092\u3055\u3089\u306b\u9ad8\u3081\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ARFGAP1 (ADP Ribosylation Factor GTPase Activating Protein 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\uff08\u5927\u8133\u76ae\u8cea\u306e\u5f62\u6210\uff09\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c**\u300c\u77e5\u7684\u969c\u5bb3\u300d<strong>\u3084<\/strong>\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d**\u306a\u3069\u306e\u767a\u9054\u9762\u306e\u554f\u984c\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\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>\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\u3067\u3059\u304c\u3001\u3053\u308c\u306f\u300c\u8a3a\u65ad\u3055\u308c\u305f\u6570\u300d\u306b\u904e\u304e\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>20q13.33\u6b20\u5931\u306f\u3001\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u307b\u3069\u5fae\u7d30\u306a\u5834\u5408\u304c\u591a\u304f\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u5358\u4f4d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u539f\u56e0\u4e0d\u660e\u306e\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u9045\u6ede\u3068\u3057\u3066\u6cbb\u7642\u3092\u53d7\u3051\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306e\u4e2d\u306b\u3001\u672a\u8a3a\u65ad\u306e\u307e\u307e\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u6f5c\u5728\u7684\u306a\u983b\u5ea6\u306f\u5831\u544a\u6570\u3088\u308a\u3082\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\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>20q13.33 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u3066\u3093\u304b\u3093\u300d\u300c\u795e\u7d4c\u767a\u9054\u9045\u6ede\u300d\u300c\u884c\u52d5\u7279\u6027\u300d\u300c\u8efd\u5ea6\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u300d**\u304c\u4e3b\u306a\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u4e73\u5e7c\u5150\u671f\u306e\u65e9\u671f\u304b\u3089\u767a\u75c7\u3059\u308b\u3066\u3093\u304b\u3093\u306f\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u304d\u3063\u304b\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\uff08Epilepsy\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306b\u898b\u3089\u308c\u308b\u3001\u6700\u3082\u533b\u5b66\u7684\u7ba1\u7406\u3092\u8981\u3059\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u3001\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u65e9\u671f\uff08\u751f\u5f8c\u6570\u65e5\u301c\u6570\u30f6\u6708\uff09\u3068\u3044\u3046\u975e\u5e38\u306b\u65e9\u3044\u6642\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u4f5c\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\uff08\u5168\u8eab\u306e\u3051\u3044\u308c\u3093\uff09\u3084\u3001\u90e8\u5206\u767a\u4f5c\uff08\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u3064\u304f\uff09\u3001\u7121\u547c\u5438\u767a\u4f5c\u306a\u3069\u3001\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>KCNQ2<\/em>\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u95a2\u9023\u3057\u305f\u3066\u3093\u304b\u3093\u306f\u3001\u901a\u5e38\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u50be\u5411\uff08\u826f\u6027\uff09\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5834\u5408\u306f\u3001\u96e3\u6cbb\u6027\u3068\u306a\u308b\u30b1\u30fc\u30b9\u3084\u3001\u767a\u4f5c\u304c\u6cbb\u307e\u3063\u305f\u5f8c\u3082\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u6b8b\u308b\u30b1\u30fc\u30b9\u306a\u3069\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6cbb\u7642\u53cd\u5fdc\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8981\u306a\u70b9\u3068\u3057\u3066\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u963b\u5bb3\u85ac\uff08\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u306a\u3069\uff09\u304c\u594f\u52b9\u3057\u3084\u3059\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\uff08\u5f8c\u8ff0\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\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>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u306e\u767a\u75c7\u6642\u671f\u3084\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u72b6\u6cc1\u306b\u3088\u3063\u3066\u3082\u4e88\u5f8c\u304c\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u7406\u89e3\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306b\u6bd4\u3079\u3066\u3001\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u5834\u5408\u306f\u3001\u767a\u8a9e\u304c\u306a\u304f\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\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>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u306e\u304c\u82e6\u624b\u306a\u72b6\u614b\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u6442\u98df\u969c\u5bb3\uff08\u3046\u307e\u304f\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u304c\u98f2\u3081\u306a\u3044\uff09\u306e\u539f\u56e0\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3001\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3068\u3044\u3063\u305fASD\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u53cd\u5fa9\u884c\u52d5\uff08\u5e38\u540c\u884c\u52d5\uff1a\u624b\u3092\u3072\u3089\u3072\u3089\u3055\u305b\u308b\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u7279\u6709\u300d\u3068\u3044\u3046\u307b\u3069\u5f37\u3044\u7279\u5fb4\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u70b9\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u624b\u8db3\u306e\u7570\u5e38\uff08\u6307\u304c\u7d30\u9577\u3044\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u3084\u53e3\u84cb\u9ad8\u30a2\u30fc\u30c1\uff08\u4e0a\u3042\u3054\u304c\u9ad8\u3044\uff09\u304c\u898b\u3089\u308c\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>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u9060\u8996\u3001\u8fd1\u8996\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong> \u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9006\u306b\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u306e\u5831\u544a\u3082\u3042\u308a\u4e00\u5b9a\u3057\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>20\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\uff0820q13.33\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001KCNQ2\u907a\u4f1d\u5b50\u7b49\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u306e\u6a5f\u80fd\u4e0d\u5168\uff08Channelopathy\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3042\u308b\u3068\u540c\u6642\u306b\u300c\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u75c5\uff08\u30c1\u30e3\u30cd\u30eb\u30aa\u30d1\u30c1\u30fc\uff09\u300d\u3068\u3057\u3066\u306e\u5074\u9762\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> \u901a\u5e382\u672c\u3042\u308b<em>KCNQ2<\/em>\u907a\u4f1d\u5b50\u304c1\u672c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u4f5c\u3089\u308c\u308b\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u91cf\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u306e\u904e\u5270\u8208\u596e:<\/strong> \u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306f\u795e\u7d4c\u306e\u8208\u596e\u3092\u93ae\u3081\u308b\u5f79\u5272\u304c\u3042\u308b\u305f\u3081\u3001\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u308f\u305a\u304b\u306a\u523a\u6fc0\u3067\u795e\u7d4c\u304c\u8208\u596e\u3057\u3063\u3071\u306a\u3057\u306b\u306a\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u300c\u95be\u5024\uff08\u3057\u304d\u3044\u5024\uff09\u300d\u304c\u4e0b\u304c\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>20q13.33\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u591a\u304f<\/strong>\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\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\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u89aa\u81ea\u8eab\u304c\u8efd\u5ea6\u306e\u75c7\u72b6\uff08\u307e\u305f\u306f\u7121\u75c7\u72b6\u306b\u8fd1\u3044\uff09\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u6b20\u5931\u304c\u907a\u4f1d\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u67d3\u8272\u4f53\u672b\u7aef\uff08\u30b5\u30d6\u30c6\u30ed\u30e1\u30a2\uff09\u306e\u6b20\u5931\u306f\u3001\u89aa\u306e\u8ee2\u5ea7\u306b\u7531\u6765\u3059\u308b\u983b\u5ea6\u304c\u4ed6\u306e\u90e8\u4f4d\u3088\u308a\u3084\u3084\u9ad8\u3044\u305f\u3081\u3001\u4e21\u89aa\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u65b0\u751f\u5150\u30fb\u4e73\u5150\u671f\u767a\u75c7\u306e\u3066\u3093\u304b\u3093\u300d\u3068\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u8efd\u5ea6\u306e\u9854\u8c8c\u7570\u5e38\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\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:<\/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>20q13.33\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>KCNQ2<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u3001\u672b\u7aef\u306e\u5fae\u7d30\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>KCNQ2<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\uff08\u6587\u5b57\u5316\u3051\uff09\u3067\u3082\u4f3c\u305f\u3088\u3046\u306a\u75c7\u72b6\uff08KCNQ2\u8133\u75c7\uff09\u304c\u51fa\u308b\u305f\u3081\u3001\u3066\u3093\u304b\u3093\u30d1\u30cd\u30eb\u691c\u67fb\u306a\u3069\u3067<em>KCNQ2<\/em>\u306e\u7570\u5e38\u304c\u898b\u3064\u304b\u308a\u3001\u8a73\u3057\u304f\u8abf\u3079\u305f\u3089\u907a\u4f1d\u5b50\u3054\u3068\u6b20\u5931\u3057\u3066\u3044\u305f\u3001\u3068\u3044\u3046\u7d4c\u7def\u3067\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001**\u300c\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff08\u7cbe\u5bc6\u533b\u7642\uff09\u300d**\u306e\u8003\u3048\u65b9\u306b\u57fa\u3065\u3044\u305f\u6cbb\u7642\u6226\u7565\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\u306e\u85ac\u7269\u7642\u6cd5\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u963b\u5bb3\u85ac:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>KCNQ2<\/em>\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u306b\u5bfe\u3057\u3066\u306f\u3001**\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\uff08CBZ\uff09<strong>\u3084<\/strong>\u30d5\u30a7\u30cb\u30c8\u30a4\u30f3\uff08PHT\uff09**\u3068\u3044\u3063\u305f\u300c\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u963b\u5bb3\u85ac\u300d\u304c\u7279\u306b\u3088\u304f\u52b9\u304f\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08\u30d6\u30ec\u30fc\u30ad\uff09\u304c\u8db3\u308a\u306a\u3044\u5206\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08\u30a2\u30af\u30bb\u30eb\uff09\u3092\u6291\u3048\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u306e\u8208\u596e\u30d0\u30e9\u30f3\u30b9\u3092\u6574\u3048\u308b\u3068\u3044\u3046\u7406\u5c48\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u65e9\u671f\u306b\u9069\u5207\u306a\u85ac\u5264\u3092\u9078\u629e\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u4f5c\u3092\u901f\u3084\u304b\u306b\u6291\u5236\u3057\u3001\u8133\u3078\u306e\u30c0\u30e1\u30fc\u30b8\u3092\u6700\u5c0f\u9650\u306b\u6291\u3048\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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\u3067\u304d\u308b\u3060\u3051\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u3042\u308b\u5834\u5408\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3084\u611f\u899a\u904e\u654f\u306b\u5bfe\u3057\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/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\u8996\u899a\u652f\u63f4\uff08\u7d75\u30ab\u30fc\u30c9\uff09\u306a\u3069\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6442\u98df\u30fb\u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u306b\u54fa\u4e73\u4e0d\u826f\u304c\u3042\u308b\u5834\u5408\u3001\u7d4c\u7ba1\u6804\u990a\u306a\u3069\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/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>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u691c\u67fb\u3067\u6b63\u5e38\u3067\u3042\u308c\u3070\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u304c\u3001\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u306f\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\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>20q13.33 microdeletion syndrome\u306f\u300120\u756a\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u30d6\u30ec\u30fc\u30ad\u5f79\u3067\u3042\u308b\u907a\u4f1d\u5b50\uff08KCNQ2\uff09\u306a\u3069\u304c\u4e0d\u8db3\u3057\u3066\u3057\u307e\u3046\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u5f8c\u307e\u3082\u306a\u304f\u300c\u3051\u3044\u308c\u3093\u767a\u4f5c\u300d\u304c\u8d77\u304d\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3053\u306e\u75c5\u6c17\u306b\u306f\u300c\u52b9\u304d\u3084\u3059\u3044\u304a\u85ac\uff08\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u306a\u3069\uff09\u300d\u304c\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u304c\u5206\u304b\u308b\u3053\u3068\u3067\u3001\u624b\u63a2\u308a\u3067\u306f\u306a\u304f\u3001\u6839\u62e0\u306b\u57fa\u3065\u3044\u305f\u6cbb\u7642\u3092\u9078\u3076\u3053\u3068\u304c\u3067\u304d\u308b\u306e\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3082\u5927\u304d\u306a\u5e0c\u671b\u3068\u306a\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u305f\u5f8c\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u306b\u5408\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u8a00\u8449\u306f\u3086\u3063\u304f\u308a\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3084\u500b\u6027\u3092\u6301\u3063\u305f\u304a\u5b50\u3055\u3093\u306b\u80b2\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u3066\u3093\u304b\u3093\u5c02\u9580\u533b\u3084\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\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>Kurahashi, H., et al.<\/strong> (2009). <em>Microdeletions of 20q13.33 involving the KCNQ2 and CHRNA4 genes in patients with epilepsy and intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b20q13.33\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306b\u304a\u3044\u3066\u3001KCNQ2\u304a\u3088\u3073CHRNA4\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3066\u3093\u304b\u3093\u3084\u77e5\u7684\u969c\u5bb3\u306e\u4e3b\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u5831\u544a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Traylor, R.N., et al.<\/strong> (2010). <em>Genotype-phenotype correlations in 20q13.33 deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001\u6b20\u5931\u7bc4\u56f2\u3068\u81e8\u5e8a\u75c7\u72b6\uff08\u3066\u3093\u304b\u3093\u3001\u767a\u9054\u9045\u6ede\u3001\u9854\u8c8c\u306a\u3069\uff09\u306e\u76f8\u95a2\u95a2\u4fc2\uff08Genotype-Phenotype Correlation\uff09\u3092\u8a73\u7d30\u306b\u691c\u8a0e\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kroenke, C.D., et al.<\/strong> (2013). <em>Arfgap1 is required for the normal development of the cerebral cortex.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bARFGAP1\u907a\u4f1d\u5b50\u304c\u8133\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u300120q13.33\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u77e5\u7684\u969c\u5bb3\u3078\u306e\u95a2\u4e0e\u3092\u793a\u5506\u3057\u305f\u57fa\u790e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>KCNQ2-Related Disorders<\/em>. Initial Posting: April 24, 2014; Last Update: April 23, 2020. <em>Authors: Miceli F, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bKCNQ2\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u75be\u60a3\u7fa4\u306e\u5305\u62ec\u7684\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u6b20\u5931\u4f8b\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u304c\u3042\u308a\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u963b\u5bb3\u85ac\u306e\u6709\u52b9\u6027\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3055\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>20q deletions<\/em> (2020).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u300120\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\uff08q13.33\u9818\u57df\u542b\u3080\uff09\u306e\u75c7\u72b6\u3084\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>KCNQ2<\/em>, <em>CHRNA4<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\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-16921","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\/16921","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16921\/revisions"}],"predecessor-version":[{"id":17609,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16921\/revisions\/17609"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16921"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}