{"id":16751,"date":"2026-01-20T01:43:47","date_gmt":"2026-01-20T01:43:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16751"},"modified":"2026-01-20T01:43:47","modified_gmt":"2026-01-20T01:43:47","slug":"17q21-31-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q21-31-duplication-syndrome\/","title":{"rendered":"17q21.31 duplication 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>17q21.31\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17q21.31\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff0817q21.31 microduplication syndrome\uff09<\/li>\n\n\n\n<li>\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\u306e\u76f8\u53cd\u91cd\u8907\uff08Reciprocal duplication of Koolen-de Vries syndrome\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc17q21.31\uff08Partial trisomy 17q21.31\uff09<\/li>\n\n\n\n<li>17q21.31\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff0817q21.31 copy number variant, duplication\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>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\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\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>\u3053\u306e\u9818\u57df\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306b\u975e\u5e38\u306b\u8208\u5473\u6df1\u3044\u5834\u6240\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b5\u30a4\u30ba:<\/strong> \u5178\u578b\u7684\u306b\u306f\u7d04500\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u301c600kb\u306e\u9818\u57df\u304c\u91cd\u8907\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u300c\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\uff08KdVS\uff09\u300d\u3067\u6b20\u5931\u3059\u308b\u306e\u3068\u5168\u304f\u540c\u3058\u7bc4\u56f2\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50:<\/strong> \u3053\u306e\u9818\u57df\u306b\u306f\u3001<em>KANSL1<\/em>\u3001<em>CRHR1<\/em>\u3001<em>MAPT<\/em>\uff08\u5fae\u5c0f\u7ba1\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\u30bf\u30a6\uff09\u3001<em>SPPL2C<\/em>\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>KANSL1:<\/strong> \u6b20\u5931\uff08KdVS\uff09\u3067\u306f\u3053\u306e\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3\u304c\u4e3b\u539f\u56e0\u3067\u3059\u304c\u3001\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09\u3067\u306f\u3053\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u304c\u3001\u795e\u7d4c\u767a\u9054\u306b\u4f55\u3089\u304b\u306e\u5f71\u97ff\uff08\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u3084\u53ef\u5851\u6027\u306e\u5909\u5316\uff09\u3092\u4e0e\u3048\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MAPT:<\/strong> \u30bf\u30a6\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3001\u795e\u7d4c\u5909\u6027\u75be\u60a3\uff08\u8a8d\u77e5\u75c7\u306a\u3069\uff09\u3068\u306e\u95a2\u9023\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5c0f\u5150\u671f\u306e\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u5f79\u5272\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\u3011<\/p>\n\n\n\n<p>\u540c\u3058\u9818\u57df\u306e\u7570\u5e38\u3067\u3059\u304c\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u5bfe\u7167\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\uff08KdVS\uff09:<\/strong> \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u7403\u6839\u72b6\u306e\u9f3b\uff09\u3084\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u3001\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306a\u3069\u3001\u6bd4\u8f03\u7684\u306f\u3063\u304d\u308a\u3057\u305f\u81e8\u5e8a\u50cf\u3092\u6301\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09:<\/strong> \u75c7\u72b6\u304c\u8efd\u5fae\u3067\u3042\u3063\u305f\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u304b\u3063\u305f\u308a\u3059\u308b\u305f\u3081\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u975e\u5e38\u306b\u56f0\u96e3\u3067\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\u3060\u304c\u3001\u6f5c\u5728\u7684\u306a\u60a3\u8005\u6570\u306f\u591a\u3044\u53ef\u80fd\u6027<\/strong><\/p>\n\n\n\n<p>17q21.31\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u7570\u5e38\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff08DECIPHER\u306a\u3069\uff09\u3078\u306e\u767b\u9332\u6570\u306f\u3001\u6b20\u5931\u75c7\u5019\u7fa4\uff08KdVS\uff09\u306b\u6bd4\u3079\u308b\u3068\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u300c\u7a00\u3060\u304b\u3089\u300d\u3068\u3044\u3046\u7406\u7531\u3060\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u75c7\u72b6\u304c\u8efd\u5ea6\u3067\u76ee\u7acb\u305f\u306a\u3044\u30b1\u30fc\u30b9\u3084\u3001\u5168\u304f\u7121\u75c7\u72b6\uff08\u8868\u73fe\u578b\u6b63\u5e38\uff09\u306e\u30b1\u30fc\u30b9\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u691c\u67fb\u3092\u53d7\u3051\u305a\u306b\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u306e\u72b6\u614b\u306b\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306e\u60a3\u8005\u3055\u3093\u306e\u4e2d\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u983b\u5ea6\u304c\u5897\u3048\u3066\u3044\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>17q21.31 duplication syndrome\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001**\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u300d\u3068\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08Variable Expressivity\uff09\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u300c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u51fa\u306a\u3044\u4eba\u304c\u3044\u308b\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u300d\u3057\u3001\u300c\u75c7\u72b6\u304c\u51fa\u308b\u5834\u5408\u3067\u3082\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u4eba\u306b\u3088\u3063\u3066\u5168\u304f\u9055\u3046\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u89aa\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u306e\u306b\u7121\u75c7\u72b6\u3067\u3001\u5b50\u4f9b\u306b\u306f\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u3001\u3068\u3044\u3063\u305f\u30b1\u30fc\u30b9\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\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>\u6700\u3082\u4e00\u822c\u7684\u306a\u53d7\u8a3a\u7406\u7531\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff08Psychomotor retardation\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u822c\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\u306a\u3069\uff09\u306e\u9045\u308c\u306f\u3001\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u4e73\u5e7c\u5150\u671f\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\u306b\u3064\u306a\u304c\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>\u8a00\u8449\u304c\u51fa\u59cb\u3081\u308b\u306e\u304c\u9045\u3044\u3001\u6587\u7ae0\u3067\u306e\u4f1a\u8a71\u304c\u82e6\u624b\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u6b20\u5931\u75c7\u5019\u7fa4\uff08KdVS\uff09\u3067\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u91cd\u5ea6\u306e\u300c\u53e3\u8154\u9854\u9762\u5931\u884c\uff08\u53e3\u304c\u3046\u307e\u304f\u52d5\u304b\u305b\u306a\u3044\uff09\u300d\u306f\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u3042\u307e\u308a\u4e00\u822c\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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\u304c\u3001\u5883\u754c\u57df\u77e5\u80fd\u3084\u3001\u5e73\u5747\u7684\u306a\u77e5\u80fd\u6307\u6570\uff08Normal IQ\uff09\u3092\u6301\u3061\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3068\u3057\u3066\u3001\u8aad\u307f\u66f8\u304d\u3084\u8a08\u7b97\u306b\u7279\u7570\u7684\u306a\u82e6\u624b\u3055\u3092\u6301\u3064\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<p>\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001\u3054\u5bb6\u65cf\u3084\u5b66\u6821\u306e\u5148\u751f\u304c\u6c17\u3065\u304d\u3084\u3059\u3044\u7279\u5fb4\u3067\u3059\u3002<\/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\u96e3\u3057\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u611f\u899a\u904e\u654f\u306a\u3069\u306eASD\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u50be\u5411\uff08\u591a\u52d5\u3001\u4e0d\u6ce8\u610f\uff09\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u969c\u5bb3\u3001\u5bfe\u4eba\u95a2\u4fc2\u306e\u82e6\u624b\u3055\uff08Shyness\uff09\u3001\u3042\u308b\u3044\u306f\u9006\u306b\u591a\u5f01\u306b\u306a\u308b\u306a\u3069\u3001\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u306f\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u82e6\u624b\u3067\u3001\u304b\u3093\u3057\u3083\u304f\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\uff08\u6613\u523a\u6fc0\u6027\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\uff08KdVS\uff09\u306e\u3088\u3046\u306a\u300c\u4e00\u76ee\u3067\u308f\u304b\u308b\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u300d\u306f\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u76ee\u7acb\u305f\u306a\u3044\uff08\u975e\u7279\u7570\u7684\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a73\u7d30\u306b\u89b3\u5bdf\u3059\u308b\u3068\u3001\u524d\u982d\u90e8\u304c\u5e83\u3044\u3001\u7709\u6bdb\u304c\u6fc3\u3044\u3001\u8033\u306e\u5f62\u304c\u5c11\u3057\u7279\u5fb4\u7684\u3001\u5c0f\u984e\u75c7\u306a\u3069\u306e\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u56f2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u5831\u544a\u3068\u3001\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u5831\u544a\u306e\u4e21\u65b9\u304c\u3042\u308a\u3001\u4e00\u5b9a\u306e\u50be\u5411\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3059\u304c\u3001\u4f4e\u8eab\u9577\u3084\u3001\u4e73\u5e7c\u5150\u671f\u306e\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\uff08Failure to thrive\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. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u306e\u5927\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c:<\/strong> \u624b\u6307\u306e\u7570\u5e38\uff08\u6307\u304c\u7d30\u3044\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\uff09\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\u3001\u8db3\u306e\u5909\u5f62\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u7a00\u306b\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u8efd\u5fae\u306a\u5fc3\u75be\u60a3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u5fc5\u9808\u306e\u75c7\u72b6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\u3068\u300cH2\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\u300d<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u3067\u91cd\u8907\u304c\u8d77\u3053\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3001\u5bfe\u306b\u306a\u308b\u300c17q21.31\u6b20\u5931\u75c7\u5019\u7fa4\uff08KdVS\uff09\u300d\u3068\u5168\u304f\u540c\u3058\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u3053\u304c\u975e\u5e38\u306b\u5c02\u9580\u7684\u304b\u3064\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u300c\u53cd\u8ee2\uff08Inversion\uff09\u300d:<br>\u30d2\u30c8\u306e17q21.31\u9818\u57df\u306b\u306f\u3001**\u300cH1\u300d\u3068\u300cH2\u300d**\u3068\u3044\u30462\u7a2e\u985e\u306e\u67d3\u8272\u4f53\u30d1\u30bf\u30fc\u30f3\uff08\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\uff09\u304c\u3042\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>H1:<\/strong> \u4e00\u822c\u7684\u306a\u914d\u5217\u3002<\/li>\n\n\n\n<li><strong>H2:<\/strong> \u30e8\u30fc\u30ed\u30c3\u30d1\u7cfb\u306e\u4eba\u3005\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u914d\u5217\u3067\u3001\u3053\u306e\u9818\u57df\u304c\u304f\u308b\u3063\u3068\u3072\u3063\u304f\u308a\u8fd4\u3063\u3066\u3044\u307e\u3059\uff08\u53cd\u8ee2\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u91cd\u8907\u306e\u30ea\u30b9\u30af:<br>\u89aa\u304c\u3053\u306e\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\u975e\u5e38\u306b\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\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u30da\u30a2\u3092\u7d44\u307f\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\uff08\u60c5\u5831\u306e\u4ea4\u63db\uff09\u304c\u8d77\u3053\u308b\u3068\u3001\u30a8\u30e9\u30fc\u304c\u767a\u751f\u3057\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u308b \u2192 <strong>\u6b20\u5931\uff08\u30af\u30fc\u30ec\u30f3\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4\uff09<\/strong><\/li>\n\n\n\n<li>\u3082\u3046\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u500d\u306b\u306a\u308b \u2192 <strong>\u91cd\u8907\uff0817q21.31\u91cd\u8907\u75c7\u5019\u7fa4\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3053\u306e\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u89aa\u304c\u6301\u3064\u300cH2\u578b\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u7279\u5fb4\uff08\u591a\u578b\uff09\u304c\u304d\u3063\u304b\u3051\u3068\u306a\u3063\u3066\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>KANSL1\u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>KANSL1<\/em>\u907a\u4f1d\u5b50\u306f\u3001DNA\u306e\u30b9\u30a4\u30c3\u30c1\u3092ON\u306b\u3059\u308b\uff08\u30af\u30ed\u30de\u30c1\u30f3\u69cb\u9020\u3092\u7de9\u3081\u308b\uff09\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7d30\u80de\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u5236\u5fa1\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u306b\u5fae\u5999\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MAPT (Tau) \u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30bf\u30a6\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u904e\u5270\u306f\u3001\u9577\u671f\u7684\u306b\u306f\u795e\u7d4c\u7d30\u80de\u306b\u30b9\u30c8\u30ec\u30b9\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5c0f\u5150\u671f\u306e\u767a\u9054\u969c\u5bb3\u3068\u306e\u76f4\u63a5\u7684\u306a\u95a2\u9023\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u307e\u3060\u7814\u7a76\u6bb5\u968e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/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><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09\u306e\u983b\u5ea6\u304c\u9ad8\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\uff08KdVS\uff09\u306e\u591a\u304f\u304cDe novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306f**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u6bd4\u8f03\u7684\u591a\u3044**\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u304c\u3001\u75c7\u72b6\u304c\u306a\u304b\u3063\u305f\u308a\uff08\u7121\u75c7\u5019\u6027\u4fdd\u56e0\u8005\uff09\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u7a0b\u5ea6\u3067\u6e08\u3093\u3067\u3044\u305f\u308a\u3059\u308b\u5834\u5408\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u907a\u4f1d\u3057\u3066\u3082\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u4e88\u6e2c\u3067\u304d\u307e\u305b\u3093\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>\u5916\u898b\u4e0a\u306e\u7279\u5fb4\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u307b\u307c\u4e0d\u53ef\u80fd\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>\u73fe\u5728\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300217q21.31\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u304c\u300c3\u300d\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u691c\u51fa\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u7684\u306a\u7591\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3001\u8efd\u5ea6\u306e\u7570\u5f62\u9854\u8c8c\u304c\u3042\u308b\u5834\u5408\u306b\u3001\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\uff08CMA\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff09\u3092\u884c\u3063\u305f\u7d50\u679c\u3001\u5076\u767a\u7684\u306b\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\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\u5177\u4f53\u7684\u306a\u56f0\u308a\u3054\u3068\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\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\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\uff09<\/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\u306b\u6c17\u3065\u3044\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>\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\u8a9e\u5f59\u3092\u5897\u3084\u3057\u305f\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u610f\u6b32\u3092\u9ad8\u3081\u305f\u308a\u3059\u308b\u652f\u63f4\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>\u4e0d\u5668\u7528\u3055\u3084\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u3001\u751f\u6d3b\u52d5\u4f5c\u306e\u7df4\u7fd2\u3084\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u53d6\u308a\u5165\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u96c6\u56e3\u751f\u6d3b\u3067\u306e\u30eb\u30fc\u30eb\u3084\u3001\u76f8\u624b\u306e\u6c17\u6301\u3061\u3092\u63a8\u6e2c\u3059\u308b\u7df4\u7fd2\u306a\u3069\u3092\u884c\u3044\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\u306e\u652f\u63f4\u8a08\u753b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u6709\u7121\u3084\u7a0b\u5ea6\u3001\u5b66\u7fd2\u969c\u5bb3\u306e\u7279\u6027\uff08\u8aad\u307f\u66f8\u304d\u304c\u82e6\u624b\u306a\u3069\uff09\u306b\u5408\u308f\u305b\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u5229\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u306e\u5b66\u7d1a\u306b\u5728\u7c4d\u3059\u308b\u5834\u5408\u3067\u3082\u3001\u8996\u899a\u7684\u306a\u88dc\u52a9\u6559\u6750\u3092\u4f7f\u3046\u3001\u5ea7\u5e2d\u3092\u914d\u616e\u3059\u308b\u306a\u3069\u306e\u300c\u5408\u7406\u7684\u914d\u616e\u300d\u304c\u5b66\u7fd2\u306e\u52a9\u3051\u306b\u306a\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\u4f53\u8a08\u6e2c\uff08\u6210\u9577\u306e\u78ba\u8a8d\uff09\u3001\u8996\u529b\u30fb\u8074\u529b\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u96d1\u97f3\u306a\u3069\u304c\u3042\u308c\u3070\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306e\u5408\u4f75\u306f\u7a00\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u9069\u5207\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u304c\u5f37\u3044\u3001\u885d\u52d5\u6027\u304c\u9ad8\u3044\u306a\u3069\u306e\u884c\u52d5\u554f\u984c\u304c\u3042\u308a\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u306f\u3001\u74b0\u5883\u8abf\u6574\u3084\u85ac\u7269\u7642\u6cd5\u3092\u691c\u8a0e\u3057\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\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u89aa\u306e\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\u300d\u306e\u8aac\u660e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306b\u3082\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u300c\u89aa\u306e\u305b\u3044\u3067\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u300c\u89aa\u304c\u7121\u75c7\u72b6\u3067\u751f\u6d3b\u3067\u304d\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u4e8b\u5b9f\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u306b\u3068\u3063\u3066\u3082\u300c\u91cd\u7be4\u306a\u969c\u5bb3\u306b\u81f3\u3089\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u300d\u3068\u3044\u3046\u5e0c\u671b\u7684\u306a\u8981\u7d20\u3092\u542b\u3093\u3067\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u5fc5\u8981\u6027\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\u3068\u5341\u5206\u306b\u8a71\u3057\u5408\u3046\u3053\u3068\u304c\u5927\u5207\u3067\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 duplication syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u91cd\u8907\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3001\u4eba\u4ed8\u304d\u5408\u3044\u304c\u5c11\u3057\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5927\u304d\u306a\u8eab\u4f53\u306e\u75c5\u6c17\u3092\u62b1\u3048\u308b\u3053\u3068\u306f\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u5927\u306e\u7279\u5fb4\u306f\u300c\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u300d\u3053\u3068\u3067\u3059\u3002\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u7279\u5225\u306a\u652f\u63f4\u306a\u3057\u3067\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u4eba\u3082\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u300c\u30ec\u30c3\u30c6\u30eb\u300d\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u5b50\u306e\u300c\u82e6\u624b\u3055\u306e\u7406\u7531\u300d\u3092\u77e5\u308b\u305f\u3081\u306e\u30d2\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u306a\u305c\u3067\u304d\u306a\u3044\u306e\uff1f\u300d\u3068\u53f1\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u300c\u67d3\u8272\u4f53\u306e\u7279\u6027\u3067\u3001\u4eca\u306f\u307e\u3060\u96e3\u3057\u3044\u3093\u3060\u306d\u300d\u3068\u7406\u89e3\u3057\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u30da\u30fc\u30b9\u3067\u7642\u80b2\u3084\u5b66\u7fd2\u652f\u63f4\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306f\u3001\u533b\u7642\u3084\u6559\u80b2\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3092\u4f38\u3070\u3057\u306a\u304c\u3089\u3001\u9577\u3044\u76ee\u3067\u6210\u9577\u3092\u898b\u5b88\u3063\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>Steinberg, S., et al.<\/strong> (2012). <em>A common inversion at chromosome 17q21.31 affects cognition and behaviour in the general population.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b17q21.31\u9818\u57df\u306e\u53cd\u8ee2\uff08H2\u30cf\u30d7\u30ed\u30bf\u30a4\u30d7\uff09\u3068\u91cd\u8907\u304c\u3001\u4e00\u822c\u96c6\u56e3\u306e\u8a8d\u77e5\u6a5f\u80fd\u3084\u884c\u52d5\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u306b\u3064\u3044\u3066\u89e3\u6790\u3057\u305f\u5927\u898f\u6a21\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Koolen, D.A., et al.<\/strong> (2008). <em>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.<\/em> (References reciprocal duplication).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u75c7\u5019\u7fa4\uff08KdVS\uff09\u306e\u7814\u7a76\u306e\u4e2d\u3067\u3001\u76f8\u53cd\u3059\u308b\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3055\u308c\u3066\u3044\u308b\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Grisart, B., et al.<\/strong> (2009). <em>17q21.31 duplication causes a recognizable syndrome with psychomotor retardation and characteristic facies.<\/em> European Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u7cbe\u795e\u904b\u52d5\u9045\u6ede\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u3092\u5831\u544a\u3057\u3001\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u78ba\u7acb\u3092\u8a66\u307f\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vulto-van Silfhout, A.T., et al.<\/strong> (2013). <em>Detailed clinical and molecular characterization of 17q21.31 microduplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e\u91cd\u8907\u75c7\u5019\u7fa4\u60a3\u8005\u306e\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u3001\u81e8\u5e8a\u50cf\u306e\u591a\u69d8\u6027\u3084\u4e0d\u5b8c\u5168\u6d78\u900f\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>KANSL1<\/em> (Triplosensitivity score: 1 &#8211; Little evidence for dosage pathogenicity).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u73fe\u6642\u70b9\u3067\u306f\u3001KANSL1\u5358\u72ec\u306e\u904e\u5270\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u3044\u3046\u8a3c\u62e0\u306f\u9650\u5b9a\u7684\u3067\u3042\u308a\u3001\u9818\u57df\u5168\u4f53\u306e\u91cd\u8907\u306b\u3088\u308b\u5f71\u97ff\u304c\u8003\u616e\u3055\u308c\u308b\u3079\u304d\u3068\u3044\u3046\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>17q21.31 duplications<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\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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