{"id":16745,"date":"2026-01-20T01:33:43","date_gmt":"2026-01-20T01:33:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16745"},"modified":"2026-01-20T05:45:35","modified_gmt":"2026-01-20T05:45:35","slug":"17q21-31-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q21-31-deletion-syndrome\/","title":{"rendered":"17q21.31 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>\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\uff08Koolen-de Vries syndrome; KdVS\uff09\u203b\u73fe\u5728\u6700\u3082\u4e00\u822c\u7684\u306a\u81e8\u5e8a\u8a3a\u65ad\u540d<\/li>\n\n\n\n<li>17q21.31\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17q21.31\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0817q21.31 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>KANSL1\u95a2\u9023\u969c\u5bb3\uff08KANSL1-related disorder\uff09<\/li>\n\n\n\n<li>17q21.31\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 17q21.31\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u306e\u5909\u9077\u306b\u3064\u3044\u3066\uff1a<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f2006\u5e74\u306bKoolen\u535a\u58eb\u3001Sharp\u535a\u58eb\u3001de Vries\u535a\u58eb\u3089\u306b\u3088\u3063\u3066\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002\u5f53\u521d\u306f\u300c17q21.31\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u5f8c\u306b\u3053\u306e\u9818\u57df\u5185\u306eKANSL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3060\u3051\u3067\u3082\u540c\u3058\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u305f\u305f\u3081\u3001\u6b20\u5931\u578b\u3068\u5909\u7570\u578b\u3092\u5408\u308f\u305b\u3066**\u300c\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\uff08KdVS\uff09\u300d**\u3068\u3044\u3046\u540d\u79f0\u3067\u7d71\u4e00\u3057\u3066\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u67d3\u8272\u4f53\u6b20\u5931\u306b\u3088\u308b\u30bf\u30a4\u30d7\u3092\u4e2d\u5fc3\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\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>17\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921.31\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c21.31\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><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\u30b5\u30a4\u30ba:<\/strong> \u5178\u578b\u7684\u306b\u306f\u7d04500\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u301c600kb\u306e\u5fae\u7d30\u6b20\u5931\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50\uff08KANSL1\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u6b20\u5931\u9818\u57df\u306b\u306f\u3001\u5c11\u306a\u304f\u3068\u30824\u3064\u306e\u907a\u4f1d\u5b50\uff08<em>KANSL1<\/em>, <em>CRHR1<\/em>, <em>MAPT<\/em>, <em>SPPL2C<\/em>\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u4e2d\u3067\u3082\u3001\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\uff08\u77e5\u7684\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u6c7a\u5b9a\u7684\u306a\u539f\u56e0\u3068\u306a\u3063\u3066\u3044\u308b\u306e\u304c<strong>KANSL1\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>KANSL1<\/em>\u306f\u3001\u30af\u30ed\u30de\u30c1\u30f3\uff08DNA\u3068\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8907\u5408\u4f53\uff09\u306e\u69cb\u9020\u3092\u8abf\u6574\u3057\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092ON\/OFF\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u3084\u4f53\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u5236\u5fa1\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MAPT\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30bf\u30a6\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3001\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3068\u306e\u95a2\u9023\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u76f4\u63a5\u7684\u306a\u5bc4\u4e0e\u306b\u3064\u3044\u3066\u306f\u8b70\u8ad6\u304c\u7d9a\u3044\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>\u7d0416,000\u4eba\u306b1\u4eba\uff08\u63a8\u5b9a\uff09<\/strong><\/p>\n\n\n\n<p>\u4ee5\u524d\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u8a3a\u65ad\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u5b9f\u969b\u306b\u306f\u3082\u3063\u3068\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u8a08\u983b\u5ea6:<\/strong> \u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u51fa\u751f\u983b\u5ea6\u306f\u7d041\/16,000 \u301c 1\/55,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u306b\u6bd4\u3079\u308c\u3070\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u75c7\u72b6\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u898b\u904e\u3054\u3055\u308c\u3066\u3044\u308b\uff08\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306e\u307f\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\uff09\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u5b9f\u969b\u306e\u60a3\u8005\u6570\u306f\u5831\u544a\u6570\u3088\u308a\u3082\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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>17q21.31 deletion syndrome\uff08KdVS\uff09\u306e\u75c7\u72b6\u306f\u3001\u5168\u8eab\u306e\u591a\u81d3\u5668\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u7279\u306b**\u300c\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u300d\u300c\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u300d\u300c\u767a\u9054\u306e\u9045\u308c\u300d**\u306e3\u3064\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\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>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3059\u308b\u611b\u3089\u3057\u3044\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6d0b\u30ca\u30b7\u72b6\u306e\u9f3b\uff08Pear-shaped nose\uff09:<\/strong> \u9f3b\u5148\u304c\u4e38\u304f\u81a8\u3089\u3093\u3067\u304a\u308a\u3001\u533b\u5b66\u7684\u306b\u300c\u7403\u6839\u72b6\u9f3b\u300d\u3068\u3082\u8868\u73fe\u3055\u308c\u307e\u3059\u3002\u6700\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u306e\u5f62\u72b6:<\/strong> \u9577\u3044\u9854\uff08\u9762\u9577\uff09\u3001\u9ad8\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u773c\u77bc\u88c2\u659c\u4e0a\uff08\u3064\u308a\u76ee\uff09\u3001\u773c\u77bc\u4e0b\u5782\uff08\u307e\u3076\u305f\u304c\u4e0b\u304c\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u304c\u5927\u304d\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u3084\u5f62\u306e\u7279\u5fb4\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u5143:<\/strong> \u4e0b\u5507\u304c\u5916\u5074\u306b\u3081\u304f\u308c\u3066\u3044\u308b\uff08Eversion of the lower lip\uff09\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u9aea\u306e\u6bdb\u3084\u808c\u306e\u8272\u7d20\u304c\u8584\u3044\u3001\u307e\u305f\u306f\u9aea\u8cea\u304c\u7279\u5fb4\u7684\uff08\u7e2e\u308c\u6bdb\u306a\u3069\uff09\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/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\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u767a\u9054\u652f\u63f4\u304c\u5fc5\u8981\u3067\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\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u91cd\u5ea6\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>IQ\u30b9\u30b3\u30a2\u306f\u5e73\u5747\u3057\u306660\u301c70\u524d\u5f8c\uff08\u8efd\u5ea6\u301c\u5883\u754c\u57df\uff09\u306e\u65b9\u304b\u3089\u3001\u4e2d\u7b49\u5ea6\u306e\u65b9\u307e\u3067\u5e45\u5e83\u3044\u3067\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\u53e3\u8154\u9854\u9762\u5931\u884c\uff08Oral-facial apraxia\uff09\u300d**\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u53e3\u306e\u7b4b\u8089\u3092\u3046\u307e\u304f\u52d5\u304b\u305b\u306a\u3044\u305f\u3081\u306b\u3001\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u308c\u305f\u308a\u3001\u767a\u97f3\u304c\u4e0d\u660e\u77ad\u306b\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u7406\u89e3\u3059\u308b\u529b\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u304a\u308a\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u30b5\u30a4\u30f3\u8a00\u8a9e\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u5f97\u610f\u306a\u5834\u5408\u304c\u591a\u3044\u3067\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\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u969c\u5bb3\uff08\u5438\u3046\u529b\u304c\u5f31\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u6027\u683c\uff08Behavior\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\uff08Amiable personality\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u3001\u975e\u5e38\u306b\u793e\u4ea4\u7684\u3067\u3001\u7b11\u9854\u304c\u591a\u304f\u3001\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u3068\u3082\u5171\u901a\u3059\u308b\u7279\u5fb4\u3067\u3059\u304c\u3001KdVS\u306e\u304a\u5b50\u3055\u3093\u3082\u300cHappy demeanor\uff08\u5e78\u305b\u305d\u3046\u306a\u614b\u5ea6\uff09\u300d\u3068\u8868\u73fe\u3055\u308c\u308b\u3053\u3068\u304c\u591a\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>\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u3001\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u50be\u5411\u3001\u611f\u899a\u904e\u654f\u306a\u3069\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. \u3066\u3093\u304b\u3093\uff08Epilepsy\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e**\u7d0450%**\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u6642\u671f\u306f\u4e73\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u304c\u591a\u304f\u3001\u767a\u4f5c\u30bf\u30a4\u30d7\u306f\u90e8\u5206\u767a\u4f5c\u3084\u5168\u822c\u767a\u4f5c\u306a\u3069\u69d8\u3005\u3067\u3059\u3002\u591a\u304f\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u304c\u3001\u5b9a\u671f\u7684\u306a\u8133\u6ce2\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u75c7\u306a\u3069\u304c\u7d0430\u301c50%\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u3001\u814e\u76c2\u62e1\u5f35\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u306a\u3069\u304c\u7d0430%\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\uff09\u3001\u80a1\u95a2\u7bc0\u8131\u81fc\u3001\u5074\u5f2f\u75c7\u3001\u80f8\u90ed\u306e\u5909\u5f62\uff08\u6f0f\u6597\u80f8\u306a\u3069\uff09\u3001\u7d30\u9577\u3044\u6307\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u773c\u30fb\u8074\u899a:<\/strong> \u659c\u8996\u3001\u9060\u8996\u3001\u96e3\u8074\uff08\u4f1d\u97f3\u6027\u30fb\u611f\u97f3\u6027\uff09\u306a\u3069\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q21.31\uff09\u306b\u304a\u3051\u308b\u7d04500-600kb\u306e\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8cac\u4efb\u907a\u4f1d\u5b50\uff1aKANSL1<\/strong><\/p>\n\n\n\n<p>\u524d\u8ff0\u306e\u901a\u308a\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308bKANSL1\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u306a\u304f\u306a\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u304c\u3001\u75c7\u72b6\u306e\u4e3b\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>KANSL1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u300cNSL\u8907\u5408\u4f53\u300d\u3068\u3044\u3046\u30c1\u30fc\u30e0\u306e\u4e00\u54e1\u3068\u3057\u3066\u50cd\u304d\u3001\u30d2\u30b9\u30c8\u30f3\uff08DNA\u304c\u5dfb\u304d\u4ed8\u3044\u3066\u3044\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u306b\u300c\u30a2\u30bb\u30c1\u30eb\u5316\u300d\u3068\u3044\u3046\u76ee\u5370\u3092\u3064\u3051\u308b\u9175\u7d20\u306e\u50cd\u304d\u3092\u52a9\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u76ee\u5370\u304c\u3064\u304f\u3068\u3001DNA\u306e\u6298\u308a\u305f\u305f\u307f\u304c\u7de9\u3093\u3067\u907a\u4f1d\u5b50\u304c\u8aad\u307f\u53d6\u308c\u308b\u72b6\u614b\uff08\u30b9\u30a4\u30c3\u30c1ON\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001KANSL1\u304c\u8db3\u308a\u306a\u3044\u3068\u3001\u672c\u6765\u50cd\u304f\u3079\u304d\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u5165\u3089\u306a\u304f\u306a\u308a\u3001\u8133\u3084\u4f53\u306e\u767a\u9054\u306b\u9045\u308c\u304c\u751f\u3058\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f\uff1a\u89aa\u306e\u67d3\u8272\u4f53\u591a\u578b\uff08H2\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3053\u306e\u5834\u6240\u3067\u6b20\u5931\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u306e\u3067\u3057\u3087\u3046\u304b\uff1f \u3053\u3053\u306b\u306f\u975e\u5e38\u306b\u8208\u5473\u6df1\u3044\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>H1\u3068H2\u3068\u3044\u30462\u3064\u306e\u578b:<br>\u30d2\u30c8\u306e17q21.31\u9818\u57df\u306b\u306f\u3001**\u300cH1\u300d\u3068\u300cH2\u300d**\u3068\u3044\u30462\u7a2e\u985e\u306e\u67d3\u8272\u4f53\u306e\u4e26\u3073\u65b9\uff08\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>H1:<\/strong> \u4e16\u754c\u7684\u306b\u6700\u3082\u591a\u3044\u4e00\u822c\u7684\u306a\u4e26\u3073\u65b9\u3002<\/li>\n\n\n\n<li><strong>H2:<\/strong> \u30e8\u30fc\u30ed\u30c3\u30d1\u7cfb\u306e\u5bb6\u7cfb\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u4e26\u3073\u65b9\u3067\u3001\u3053\u306e\u9818\u57df\u304c**\u300c\u53cd\u8ee2\uff08Inversion\uff09\u300d**\u3057\u3066\u3044\u307e\u3059\uff08DNA\u306e\u5411\u304d\u304c\u9006\u306b\u306a\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>H2\u578b\u306f\u6b20\u5931\u306e\u30ea\u30b9\u30af\u56e0\u5b50:<br>\u89aa\u304c\u300cH2\u578b\u300d\u306e\u67d3\u8272\u4f53\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u305d\u306e\u9818\u57df\u306b\u306fDNA\u914d\u5217\u304c\u3088\u304f\u4f3c\u305f\u300c\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u300d\u304c\u8907\u96d1\u306b\u914d\u7f6e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u3053\u306e\u53cd\u5fa9\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u7d50\u3073\u3064\u304d\u3084\u3059\u304f\u3001\u7d50\u679c\u3068\u3057\u3066\u305d\u306e\u9593\u306e\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3046\uff08NAHR\uff1a\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<br>\u5b9f\u969b\u300117q21.31\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306e\u89aa\u306e\u307b\u3068\u3093\u3069\u304c\u3001\u3053\u306e\u300cH2\u578b\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<br>\u60a3\u8005\u3055\u3093\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\uff08\u89aa\u3082\u75c7\u72b6\u304c\u3042\u308b\uff09\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u89aa\u306e\u5f71\u97ff:<br>\u89aa\u304c\u300cH2\u578b\uff08\u53cd\u8ee2\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u89aa\u81ea\u8eab\u306f\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u5065\u5eb7\uff08\u7121\u75c7\u72b6\uff09\u3067\u3059\u3002\u3042\u304f\u307e\u3067\u300c\u6b20\u5931\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u571f\u58cc\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u3059\u3002<br>\u3057\u305f\u304c\u3063\u3066\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3088\u308a\u306f\u308f\u305a\u304b\u306b\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u57fa\u672c\u7684\u306b\u306f\u4f4e\u3044\u3067\u3059\u3002<\/p>\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\u9854\u8c8c\u304c\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u3067\u3042\u308c\u3070\u898b\u305f\u76ee\u3067\u7591\u3046\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u9808\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>17q21.31\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\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>\u6b20\u5931\u3060\u3051\u3067\u306a\u304f\u3001<em>KANSL1<\/em>\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\uff08\u6b20\u5931\u306f\u306a\u3044\u304c\u907a\u4f1d\u5b50\u304c\u58ca\u308c\u3066\u3044\u308b\u30bf\u30a4\u30d7\uff09\u3082\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3069\u3061\u3089\u3082\u300c\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u8a3a\u65ad\u3055\u308c\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>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u4f38\u3070\u3059\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u4e88\u5f8c\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3067\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u81ea\u7acb\u5ea6\u3092\u9ad8\u3081\u3066\u751f\u6d3b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u652f\u63f4<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002\u53e3\u8154\u9854\u9762\u5931\u884c\uff08\u53e3\u306e\u52d5\u304b\u3057\u306b\u304f\u3055\uff09\u304c\u3042\u308b\u305f\u3081\u3001\u901a\u5e38\u306e\u767a\u97f3\u7df4\u7fd2\u3060\u3051\u3067\u306a\u304f\u3001\u53e3\u8154\u30de\u30c3\u30b5\u30fc\u30b8\u3084\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3001\u7d75\u30ab\u30fc\u30c9\u3001AAC\uff08\u30bf\u30d6\u30ec\u30c3\u30c8\u7b49\u306e\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7406\u89e3\u529b\u306f\u9ad8\u3044\u305f\u3081\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u3067\u3001\u304b\u3093\u3057\u3083\u304f\u7b49\u306e\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\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\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u6b69\u884c\u3084\u904b\u52d5\u80fd\u529b\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3044\u305f\u3081\u3001\u8131\u81fc\u4e88\u9632\u306e\u6307\u5c0e\u3082\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\u5fae\u7d30\u904b\u52d5\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08\u7740\u66ff\u3048\u3001\u98df\u4e8b\uff09\u306e\u81ea\u7acb\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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>\u8a3a\u65ad\u6642\u306b\u5fc3\u30a8\u30b3\u30fc\u3001\u814e\u30a8\u30b3\u30fc\u3001\u773c\u79d1\u3001\u8074\u529b\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5074\u5f2f\u75c7\u306e\u30c1\u30a7\u30c3\u30af\u3084\u3001\u6b6f\u79d1\u691c\u8a3a\uff08\u6b6f\u4e26\u3073\u3084\u866b\u6b6f\u4e88\u9632\uff09\u3082\u91cd\u8981\u3067\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>\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u3084\u505c\u7559\u7cbe\u5de3\u3001\u91cd\u5ea6\u306e\u5074\u5f2f\u75c7\u306a\u3069\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5fc3\u7406\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u89aa\u306e\u4f1a\u30fb\u60a3\u8005\u4f1a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\u300d\u306e\u60a3\u8005\u4f1a\uff08\u6d77\u5916\u3067\u306f\u975e\u5e38\u306b\u6d3b\u767a\u3001\u65e5\u672c\u3067\u3082SNS\u7b49\u3067\u3064\u306a\u304c\u308a\u304c\u3042\u308a\u307e\u3059\uff09\u306b\u53c2\u52a0\u3057\u3001\u60c5\u5831\u4ea4\u63db\u3092\u884c\u3046\u3053\u3068\u306f\u5927\u304d\u306a\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u540c\u3058\u3088\u3046\u306a\u300c\u4eba\u61d0\u3063\u3053\u3044\u3051\u308c\u3069\u3001\u5c11\u3057\u4e0d\u5668\u7528\u300d\u306a\u7279\u5fb4\u3092\u6301\u3064\u5b50\u4f9b\u305f\u3061\u306e\u6210\u9577\u8a18\u9332\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u6301\u3064\u4e0a\u3067\u5f79\u7acb\u3061\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>17q21.31 deletion syndrome\uff08\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001KANSL1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3057\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u767a\u9054\u3084\u3001\u53e3\u306e\u7b4b\u8089\u306e\u4f7f\u3044\u306b\u304f\u3055\u306b\u3088\u308b\u8a00\u8449\u306e\u9045\u308c\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6700\u5927\u306e\u7279\u5fb4\u306f\u300c\u7b11\u9854\u304c\u591a\u304f\u3001\u793e\u4ea4\u7684\u3067\u4eba\u61d0\u3063\u3053\u3044\u300d\u305d\u306e\u611b\u3059\u3079\u304d\u6027\u683c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u8a71\u3059\u306e\u304c\u82e6\u624b\u3067\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u307e\u3059\u3002\u30b5\u30a4\u30f3\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3092\u4f7f\u3048\u3070\u3001\u8c4a\u304b\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u3084\u5fc3\u81d3\u306a\u3069\u306e\u533b\u5b66\u7684\u30b1\u30a2\u306f\u5fc5\u8981\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u7642\u80b2\u3068\u74b0\u5883\u8abf\u6574\u3092\u884c\u3048\u3070\u3001\u5b66\u6821\u751f\u6d3b\u3092\u697d\u3057\u307f\u3001\u5c06\u6765\u7684\u306b\u306f\u5c31\u52b4\u3084\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3067\u304d\u306a\u3044\u3053\u3068\u300d\u3088\u308a\u3082\u300c\u5f97\u610f\u306a\u3053\u3068\uff08\u4eba\u3068\u306e\u95a2\u308f\u308a\u3084\u7406\u89e3\u529b\uff09\u300d\u306b\u76ee\u3092\u5411\u3051\u3001\u533b\u7642\u3068\u7642\u80b2\u306e\u30c1\u30fc\u30e0\u3067\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u5fdc\u63f4\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\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>GeneReviews\u00ae [Internet]<\/strong>: <em>Koolen-de Vries Syndrome<\/em>. Initial Posting: January 26, 2010; Last Update: January 17, 2019. <em>Authors: Koolen DA, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u767a\u898b\u8005\u3067\u3042\u308bKoolen\u535a\u58eb\u3089\u306b\u3088\u308b\u3001\u6700\u3082\u4fe1\u983c\u6027\u304c\u9ad8\u304f\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Koolen, D.A., et al.<\/strong> (2006). <em>A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u5831\u544a\u3057\u3001H2\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\uff08\u53cd\u8ee2\uff09\u3068\u306e\u95a2\u9023\u3092\u89e3\u660e\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Koolen, D.A., et al.<\/strong> (2012). <em>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bKANSL1\u907a\u4f1d\u5b50\u304c\u672c\u75c7\u5019\u7fa4\u306e\u771f\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Koolen, D.A., et al.<\/strong> (2016). <em>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u578b\u3068\u5909\u7570\u578b\u306e\u60a3\u8005\u306e\u75c7\u72b6\u3092\u6bd4\u8f03\u3057\u3001\u81e8\u5e8a\u7684\u306b\u307b\u307c\u533a\u5225\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u3092\u793a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>Koolen-de Vries Syndrome (17q21.31 microdeletion syndrome)<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u751f\u6d3b\u9762\u3067\u306e\u5177\u4f53\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u304c\u5145\u5b9f\u3057\u3066\u3044\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>KANSL1<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(KANSL1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u75be\u60a3\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u306e\u79d1\u5b66\u7684\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-16745","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\/16745","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\/16745\/revisions"}],"predecessor-version":[{"id":16826,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16745\/revisions\/16826"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16745"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}