{"id":16915,"date":"2026-01-21T02:18:12","date_gmt":"2026-01-21T02:18:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16915"},"modified":"2026-01-21T02:19:16","modified_gmt":"2026-01-21T02:19:16","slug":"20p13-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/20p13-microdeletion-syndrome\/","title":{"rendered":"20p13 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>20p13\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>20p13\u6b20\u5931\u75c7\u5019\u7fa4\uff0820p13 deletion syndrome\uff09<\/li>\n\n\n\n<li>20p13\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 20p13\uff09<\/li>\n\n\n\n<li>20\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0820p terminal deletion syndrome\uff09<\/li>\n\n\n\n<li>20p\u30b5\u30d6\u30c6\u30ed\u30e1\u30a2\u6b20\u5931\uff0820p subtelomeric deletion\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aSOX12\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08SOX12-related neurodevelopmental disorder\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>20\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e20\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c13\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\u7279\u5fb4\u3011<\/p>\n\n\n\n<p>20\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e\u4e2d\u3067\u306f\u5c0f\u3055\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u304c\u3001\u305d\u306e\u5148\u7aef\u3067\u3042\u308b\u300c20p13\u300d\u9818\u57df\u306f\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u9ad8\u304f\u3001\u8133\u306e\u767a\u9054\u3084\u6a5f\u80fd\u7dad\u6301\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\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\u306e\u5fae\u7d30\u306a\u3082\u306e\u304b\u3089\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u53ca\u3076\u5927\u304d\u306a\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\uff1aSOX12\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75c7\u72b6\uff08\u7279\u306b\u767a\u9054\u9045\u6ede\uff09\u306e\u4e3b\u306a\u539f\u56e0\u3068\u3057\u3066\u3001\u8fd1\u5e74\u6700\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u306e\u304cSOX12\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SOX12 (SRY-Box Transcription Factor 12):<\/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>SOX\u30d5\u30a1\u30df\u30ea\u30fc\u3068\u547c\u3070\u308c\u308b\u907a\u4f1d\u5b50\u7fa4\u306e\u4e00\u3064\u3067\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>SOX12<\/em>\u306f\u3001\u80ce\u5150\u671f\u306e\u8133\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u304c\u751f\u307e\u308c\u305f\u308a\u3001\u79fb\u52d5\u3057\u305f\u308a\u3001\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u4f5c\u3063\u305f\u308a\u3059\u308b\u904e\u7a0b\uff08\u795e\u7d4c\u767a\u751f\uff09\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u52d5\u7269\u5b9f\u9a13\u306a\u3069\u306b\u3088\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3059\u308b\u3068\u8133\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u77e5\u7684\u969c\u5bb3\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NRSN2 (Neurensin 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u6d77\u99ac\u3084\u6241\u6843\u4f53\u306a\u3069\u3067\u50cd\u304f\u907a\u4f1d\u5b50\u3067\u3001\u8a18\u61b6\u3084\u5b66\u7fd2\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>SOX12<\/em>\u306e\u3059\u3050\u8fd1\u304f\u306b\u3042\u308a\u3001\u540c\u6642\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u77e5\u7684\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u5897\u5f37\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u6ce8\u610f\u70b9\uff1a\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044<\/p>\n\n\n\n<p>20\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u306f\u3001\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bJAG1\uff0820p12.2\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>20p13\u6b20\u5931\u304c\u5927\u304d\u304f\u5e83\u304c\u308a\u300120p12.2\u9818\u57df\u307e\u3067\u53ca\u3093\u3067\u3044\u308b\u5834\u5408\u306f\u3001\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08\u809d\u81d3\u3084\u5fc3\u81d3\u306e\u91cd\u7be4\u306a\u75c5\u6c17\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u72ed\u7fa9\u306e\u300c20p13\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u672b\u7aef\u6b20\u5931\uff09\u300d\u306f\u3001\u901a\u5e38JAG1\u907a\u4f1d\u5b50\u3092\u542b\u307e\u306a\u3044\u305f\u3081\u3001\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u306f\u533a\u5225\u3055\u308c\u307e\u3059\u3002<\/p>\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\u6c37\u5c71\u306e\u4e00\u89d2\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u305c\u306a\u3089\u3001\u672c\u75be\u60a3\u306e\u4e3b\u306a\u75c7\u72b6\u3067\u3042\u308b\u300c\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u8efd\u5ea6\u306e\u9854\u8c8c\u7570\u5e38\u300d\u306f\u3001\u4ed6\u306e\u591a\u304f\u306e\u75be\u60a3\u3067\u3082\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u67d3\u8272\u4f53\u691c\u67fb\uff08\u7279\u306b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff09\u3092\u884c\u308f\u306a\u3044\u9650\u308a\u3001\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u307e\u307e\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u300c\u672a\u8a3a\u65ad\u4f8b\u300d\u304c\u591a\u304f\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\uff08Rare Chromosome Disorder\uff09\u306e\u4e00\u3064\u306b\u5206\u985e\u3055\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>20p13 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001**\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d**\u306a\u3069\u304c\u4e3b\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u751f\u547d\u4e88\u5f8c\u306f\u826f\u597d\u306a\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u751f\u6d3b\u9762\u3067\u306e\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \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\u3001\u6642\u306b\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>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\uff08GDD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u30cf\u30a4\u30cf\u30a4\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u5f8c\u8ff0\u3059\u308b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u3001\u8133\u306e\u904b\u52d5\u5236\u5fa1\u6a5f\u80fd\u306e\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u304c\u95a2\u4fc2\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u306e\u30da\u30fc\u30b9\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u3084\u3001\u8907\u96d1\u306a\u8ab2\u984c\u306e\u51e6\u7406\u306b\u96e3\u3057\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u306b\u300c\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u300d\u304c\u9855\u8457\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u7406\u89e3\u3057\u3066\u3044\u3066\u3082\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u3001\u81ea\u5206\u3067\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3092\u7528\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5354\u8abf\u904b\u52d5\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\uff08\u5fae\u7d30\u904b\u52d5\uff09\u3084\u3001\u8d70\u308b\u30fb\u30b8\u30e3\u30f3\u30d7\u3059\u308b\u3068\u3044\u3063\u305f\u5168\u8eab\u904b\u52d5\uff08\u7c97\u5927\u904b\u52d5\uff09\u306e\u304e\u3053\u3061\u306a\u3055\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>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u306a\u3089\u5fc5\u305a\u3053\u306e\u9854\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\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u3044\u984d\u30fb\u5e83\u3044\u984d\uff08Prominent forehead\uff09:<\/strong> \u304a\u3067\u3053\u304c\u5e83\u304f\u3001\u524d\u306b\u51fa\u3066\u3044\u308b\u3088\u3046\u306a\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u306e\u7279\u5fb4:<\/strong> \u9f3b\u6839\u90e8\uff08\u76ee\u3068\u76ee\u306e\u9593\uff09\u304c\u5e83\u3044\u3001\u9f3b\u7b4b\u304c\u901a\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u76ee\u3068\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u5143\u306e\u7279\u5fb4:<\/strong> \u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3001\u984e\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u984e\u75c7\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u30fb\u7b4b\u9aa8\u683c\u7cfb\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3050\u306b\u3083\u3063\u3068\u3059\u308b\u611f\u3058\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u529b\u304c\u5f31\u3044\u3001\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\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>\u6307\u304c\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\uff08\u5185\u6e7e\u6307\uff09\u3001\u624b\u8db3\u304c\u5c0f\u3055\u3044\u306a\u3069\u306e\u8efd\u5fae\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\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>\u983b\u5ea6\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u591a\u304f\u306f\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/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\u3084\u3001\u3053\u3060\u308f\u308a\u3068\u3044\u3063\u305fASD\u306e\u7279\u6027\u3092\u6301\u3064\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3001\u6ce8\u610f\u529b\u306e\u6563\u6f2b\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u7684\u306b\u3001\u4eba\u61d0\u3063\u3053\u304f\u793e\u4ea4\u7684\u306a\u6027\u683c\u3067\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u4e00\u9762\u3082\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\uff08\u983b\u5ea6\u306f\u4f4e\u3044\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577:<\/strong> \u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9006\u306b\u904e\u6210\u9577\uff08\u80cc\u304c\u9ad8\u3044\uff09\u306e\u5831\u544a\u3082\u3042\u308a\u3001\u4e00\u5b9a\u3057\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u9060\u8996\u3001\u8fd1\u8996\u306a\u3069\u306e\u5c48\u6298\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong> \u6b6f\u4e26\u3073\u306e\u554f\u984c\u3084\u3001\u6b6f\u306e\u6b20\u640d\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\u77ed\u8155\u672b\u7aef\uff0820p13\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u30cf\u30d7\u30ed\u4e0d\u5168\u306e\u5f71\u97ff<\/strong><\/p>\n\n\n\n<p>20p13\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u751f\u7523\u91cf\u304c\u534a\u5206\u306b\u306a\u308a\u307e\u3059\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3002<\/p>\n\n\n\n<p>\u7279\u306bSOX12\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u4f5c\u3089\u308c\u308b\u91cd\u8981\u306a\u6642\u671f\u306b\u5fc5\u8981\u306a\u56e0\u5b50\u3067\u3042\u308b\u305f\u3081\u3001\u305d\u306e\u91cf\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7d30\u80de\u306e\u914d\u7f6e\u3084\u63a5\u7d9a\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u5354\u8abf\u904b\u52d5\u306e\u82e6\u624b\u3055\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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>20p13\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u90e8\u5206<\/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>\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>\u4e0d\u5747\u8861\u8ee2\u5ea7\uff08Familial Translocation\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff0820\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u304c\u4ed6\u306e\u67d3\u8272\u4f53\u3068\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u4f9b\u306b\u6b20\u5931\uff08\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u91cd\u8907\uff09\u304c\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u5bb6\u65cf\u5185\u3067\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u5916\u898b\u304c\u4e4f\u3057\u3044\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u3057\u3066\u691c\u67fb\u304c\u9032\u3081\u3089\u308c\u308b\u4e2d\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\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:<\/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>20p13\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>SOX12<\/em>\u306a\u3069\u306e\u91cd\u8981\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\uff08\u9855\u5fae\u93e1\u3067\u306e\u89b3\u5bdf\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u304c\u3001CMA\u3067\u306f\u78ba\u5b9f\u306b\u8a3a\u65ad\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5f8c\u3001\u305d\u308c\u304c\u7a81\u7136\u5909\u7570\u306a\u306e\u304b\u3001\u89aa\u306e\u8ee2\u5ea7\u7531\u6765\u306a\u306e\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u308b\u4e0a\u3067\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2\uff08Early Intervention\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u3042\u308b\u3044\u306f\u767a\u9054\u306e\u9045\u308c\u304c\u6c17\u306b\u306a\u3063\u305f\u6642\u70b9\u304b\u3089\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u7642\u80b2\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\uff08\u5ea7\u308b\u30fb\u6b69\u304f\uff09\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8ee2\u3073\u3084\u3059\u3044\u3001\u904b\u52d5\u304c\u82e6\u624b\u3068\u3044\u3063\u305f\u75c7\u72b6\u306b\u5bfe\u3057\u3001\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u990a\u3046\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\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\uff08\u5fae\u7d30\u904b\u52d5\uff09\u306e\u6539\u5584\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08\u7740\u66ff\u3048\u3001\u98df\u4e8b\u3001\u66f8\u5b57\u306a\u3069\uff09\u306e\u81ea\u7acb\u3092\u652f\u63f4\u3057\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<\/li>\n\n\n\n<li>\u8a00\u8449\u3067\u306e\u8868\u73fe\u304c\u96e3\u3057\u3044\u6642\u671f\u306f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u3092\u6d3b\u7528\u3057\u3001\u300c\u4f1d\u3048\u305f\u3044\u300d\u3068\u3044\u3046\u610f\u6b32\u3092\u80b2\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u74b0\u5883\u306e\u8abf\u6574<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u652f\u63f4\uff08\u898b\u3066\u308f\u304b\u308b\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u306a\u3069\uff09\u3084\u3001\u843d\u3061\u7740\u3051\u308b\u74b0\u5883\u4f5c\u308a\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\u306e\u8a08\u6e2c\u3092\u884c\u3044\u3001\u6210\u9577\u3092\u898b\u5b88\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u691c\u8a3a\uff08\u659c\u8996\u3084\u8996\u529b\uff09\u3001\u8074\u529b\u691c\u67fb\u3001\u6b6f\u79d1\u691c\u8a3a\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u3001\u554f\u984c\u304c\u3042\u308c\u3070\u65e9\u671f\u306b\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\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>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u5e0c\u5c11\u3067\u3042\u308a\u3001\u30cd\u30c3\u30c8\u4e0a\u306a\u3069\u306e\u60c5\u5831\u3082\u5c11\u306a\u3044\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u3001\u75be\u60a3\u306e\u7279\u6027\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u8aac\u660e\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u5bb6\u7cfb\u5168\u4f53\u306b\u95a2\u308f\u308b\u8a71\u3068\u306a\u308b\u305f\u3081\u3001\u614e\u91cd\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\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>20p13 microdeletion syndrome\u306f\u300120\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u90e8\u5206\u3001\u7279\u306b\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308bSOX12\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u300d\u300c\u904b\u52d5\u304c\u5c11\u3057\u82e6\u624b\u300d\u300c\u304a\u3063\u3068\u308a\u3057\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u91cd\u3044\u5185\u81d3\u306e\u75c5\u6c17\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u5143\u6c17\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3055\u308c\u305f\u5f53\u521d\u306f\u3001\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u6238\u60d1\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u8a3a\u65ad\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u82e6\u624b\u3055\u300d\u306e\u539f\u56e0\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u3059\u308b\u305f\u3081\u306e\u7b2c\u4e00\u6b69\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u9045\u308c\u3084\u904b\u52d5\u306e\u304e\u3053\u3061\u306a\u3055\u306b\u306f\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\u304c\u975e\u5e38\u306b\u52b9\u679c\u7684\u3067\u3059\u3002\u304a\u5b50\u3055\u3093\u306f\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u3001\u78ba\u5b9f\u306b\u3067\u304d\u308b\u3053\u3068\u3092\u5897\u3084\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u3001\u6559\u80b2\u3001\u798f\u7949\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u6e29\u304b\u304f\u898b\u5b88\u3063\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>Sebold, C., et al.<\/strong> (2010). <em>Tetrasomy 20p13 resulting from a de novo inverted duplication of the distal short arm of chromosome 20.<\/em> (Includes comparative analysis of 20p deletions and dosage effects).\n<ul class=\"wp-block-list\">\n<li>(\u203b20p13\u9818\u57df\u306e\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08\u91cd\u8907\u3068\u6b20\u5931\uff09\u306b\u3064\u3044\u3066\u6bd4\u8f03\u691c\u8a0e\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Melchiorre, L., et al.<\/strong> (2019). <em>SOX12: a candidate gene for the 20p13 microdeletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b20p13\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\u3092\u5831\u544a\u3057\u3001SOX12\u907a\u4f1d\u5b50\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u4e3b\u8981\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u63d0\u5531\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lau, C.C., et al.<\/strong> (2001). <em>20p13 chromosome microdeletion in a patient with global developmental delay and distinctive facial features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b20p13\u5fae\u7d30\u6b20\u5931\u306e\u521d\u671f\u306e\u75c7\u4f8b\u5831\u544a\u3002\u9854\u8c8c\u306e\u7279\u5fb4\u3084\u767a\u9054\u9045\u6ede\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u8a18\u8f09\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>20p deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u300120\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\uff08p13\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>SOX12<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bSOX12\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\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 20p13 deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u4e2d\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\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> 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