{"id":16696,"date":"2026-01-19T08:53:12","date_gmt":"2026-01-19T08:53:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16696"},"modified":"2026-01-22T09:00:04","modified_gmt":"2026-01-22T09:00:04","slug":"16p13-11-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p13-11-duplication-syndrome\/","title":{"rendered":"16p13.11 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>16p13.11\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>16p13.11\u5fae\u7d30\u91cd\u8907\uff0816p13.11 microduplication\uff09<\/li>\n\n\n\n<li>16p13.11\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff0816p13.11 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u795e\u7d4c\u8a8d\u77e5\u969c\u5bb3\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u5ea72\uff08Neurocognitive disorder susceptibility locus 2\uff09\u203bOMIM\u7b49\u3067\u306e\u5206\u985e<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc16p13.11\uff08Partial trisomy 16p13.11\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>16\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.11\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c13.11\u300d\u3068\u547c\u3070\u308c\u308b\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\u300116p13.11\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u5931\u308f\u308c\u308b\u9818\u57df\u3068\u5168\u304f\u540c\u3058\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\u7d040.8\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u301c1.65Mb\u3001\u3042\u308b\u3044\u306f\u7d043.4Mb\u306e\u7bc4\u56f2\u3067\u91cd\u8907\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8:<\/strong> \u3053\u306e\u9818\u57df\u306e\u4e21\u7aef\u306b\u306f\u300c\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3001\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305fDNA\u914d\u5217\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u30df\u30b9\uff08\u7d44\u63db\u3048\u30a8\u30e9\u30fc\uff09\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u300c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u300d\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u91cd\u8907\u3059\u308b\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u3084\u7b4b\u8089\u306e\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u904e\u5270\u306b\u306a\u308b\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff1aTriplosensitivity\uff09\u3053\u3068\u3067\u5f71\u97ff\u304c\u51fa\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NDE1:<\/strong> \u8133\u306e\u5927\u8133\u76ae\u8cea\u5f62\u6210\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3002\u6b20\u5931\u3067\u306f\u5c0f\u982d\u75c7\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\u3067\u306f\u8133\u306e\u767a\u9054\u30d7\u30ed\u30bb\u30b9\u306e\u5fae\u7d30\u306a\u5909\u5316\u306b\u95a2\u4e0e\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MYH11:<\/strong> \u5e73\u6ed1\u7b4b\u306e\u53ce\u7e2e\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3002\u8840\u7ba1\uff08\u5927\u52d5\u8108\uff09\u3084\u8178\u7ba1\u306e\u52d5\u304d\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>ABCC1 \/ ABCC6:<\/strong> \u85ac\u7269\u4ee3\u8b1d\u3084\u7269\u8cea\u8f38\u9001\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u4e00\u822c\u96c6\u56e3\u3067\u3082\u6bd4\u8f03\u7684\u591a\u304f\u898b\u3089\u308c\u308b\u300c\u30b3\u30e2\u30f3\u30d0\u30ea\u30a2\u30f3\u30c8\u300d\u306b\u8fd1\u3044\u6027\u8cea\u3092\u6301\u3064<\/strong><\/p>\n\n\n\n<p>16p13.11\u91cd\u8907\u306f\u3001\u660e\u3089\u304b\u306a\u969c\u5bb3\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u3060\u3051\u3067\u306a\u304f\u3001\u5065\u5eb7\u306a\u4e00\u822c\u306e\u65b9\u304b\u3089\u3082\u6bd4\u8f03\u7684\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u4e00\u6614\u524d\u307e\u3067\u306f\u300c\u75c5\u7684\u610f\u7fa9\u306e\u306a\u3044\u826f\u6027\u306e\u5909\u5316\uff08Benign variant\uff09\u300d\u3068\u898b\u306a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u8fd1\u5e74\u306e\u5927\u898f\u6a21\u306a\u7d71\u8a08\u89e3\u6790\u306b\u3088\u308a\u3001\u767a\u9054\u969c\u5bb3\u3084\u7cbe\u795e\u75be\u60a3\u3092\u6301\u3064\u96c6\u56e3\u3067\u306f\u3001\u5065\u5e38\u8005\u96c6\u56e3\u3088\u308a\u3082\u6709\u610f\u306b\u691c\u51fa\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u5224\u660e\u3057\u3001\u73fe\u5728\u3067\u306f\u300c\u75be\u60a3\u611f\u53d7\u6027\u56e0\u5b50\uff08\u30ea\u30b9\u30af\u30d5\u30a1\u30af\u30bf\u30fc\uff09\u300d\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e00\u822c\u96c6\u56e3\u3067\u306e\u983b\u5ea6:<\/strong> \u5831\u544a\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7d041,300\u4eba\u301c2,600\u4eba\u306b1\u4eba\u7a0b\u5ea6\uff08\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0a\uff09\u306e\u983b\u5ea6\u3067\u898b\u3064\u304b\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u306f\u975e\u5e38\u306b\u9ad8\u3044\u983b\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u96c6\u56e3\u3067\u306e\u6fc3\u7e2e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3001\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u60a3\u8005\u7fa4\u3067\u306f\u3001\u4e00\u822c\u96c6\u56e3\u306b\u6bd4\u3079\u3066\u7d041.5\u500d\u301c3\u500d\u7a0b\u5ea6\u306e\u983b\u5ea6\u3067\u898b\u3064\u304b\u308b\u3068\u306e\u7814\u7a76\u7d50\u679c\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>16p13.11 duplication syndrome\u306e\u81e8\u5e8a\u50cf\u3092\u7406\u89e3\u3059\u308b\u30ad\u30fc\u30ef\u30fc\u30c9\u306f\u3001\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u300c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u75c7\u72b6\u304c\u51fa\u308b\u3068\u306f\u9650\u3089\u306a\u3044\u300d\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u5b9f\u969b\u3001\u8a3a\u65ad\u3055\u308c\u305f\u304a\u5b50\u3055\u3093\u306e\u89aa\u3092\u691c\u67fb\u3059\u308b\u3068\u3001\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u5168\u304f\u5065\u5eb7\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u73fe\u308c\u308b\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u304c\u6975\u3081\u3066\u5927\u304d\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u884c\u52d5\u7279\u6027\uff08\u4e3b\u306a\u7279\u5fb4\uff09<\/strong><\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u91cd\u3044\u969c\u5bb3\u3088\u308a\u3082\u3001\u767a\u9054\u3084\u884c\u52d5\u306e\u7279\u6027\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\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> \u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3001\u8208\u5473\u306e\u504f\u308a\u3001\u611f\u899a\u904e\u654f\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u300216p13.11\u91cd\u8907\u306f\u3001ASD\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u306e\u4e00\u3064\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09:<\/strong> \u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3001\u4e0d\u6ce8\u610f\u3001\u885d\u52d5\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09 \/ \u77e5\u7684\u6a5f\u80fd:<\/strong> \u5168\u4f53\u7684\u306a\u77e5\u80fd\u6307\u6570\uff08IQ\uff09\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\uff08Normal IQ\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5e73\u5747\u3088\u308a\u3084\u3084\u4f4e\u3044\uff08\u5883\u754c\u57df\uff09\u5834\u5408\u3084\u3001\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u300c\u8aad\u307f\u66f8\u304d\u304c\u82e6\u624b\u300d\u300c\u7b97\u6570\u304c\u82e6\u624b\u300d\u3068\u3044\u3063\u305f\u5b66\u7fd2\u969c\u5bb3\u306e\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054:<\/strong> \u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u5c11\u3057\u9045\u3044\u3001\u8907\u96d1\u306a\u6587\u7ae0\u306e\u7406\u89e3\u304c\u82e6\u624b\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u8ffd\u3044\u3064\u304f\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\uff08\u9752\u5e74\u671f\u301c\u6210\u4eba\u671f\uff09<\/strong><\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u7279\u306b\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u306e\u304c\u3001\u6210\u4eba\u671f\u4ee5\u964d\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u3068\u306e\u95a2\u9023\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d71\u5408\u5931\u8abf\u75c7\uff08Schizophrenia\uff09:<\/strong> 16p13.11\u91cd\u8907\u306f\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306e\u767a\u75c7\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u56e0\u5b50\u306e\u4e00\u3064\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3082\u3061\u308d\u3093\u3001\u91cd\u8907\u3092\u6301\u3064\u4eba\u304c\u5168\u54e1\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e00\u822c\u96c6\u56e3\u3088\u308a\u306f\u30ea\u30b9\u30af\u304c\u9ad8\u3044\uff08\u6570\u500d\u7a0b\u5ea6\uff09\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u5fc3\u306e\u30b1\u30a2\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u7cbe\u795e\u75c7\u72b6:<\/strong> \u53cc\u6975\u6027\u969c\u5bb3\uff08\u8e81\u3046\u3064\u75c5\uff09\u3084\u4e0d\u5b89\u969c\u5bb3\u306a\u3069\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u5fc3\u8840\u7ba1\u7cfb\u30ea\u30b9\u30af<\/strong><\/p>\n\n\n\n<p>16p13.11\u300c\u6b20\u5931\u300d\u75c7\u5019\u7fa4\u3067\u306f\u3001\u5c0f\u982d\u75c7\u3084\u3066\u3093\u304b\u3093\u3001\u8eab\u4f53\u5947\u5f62\u304c\u6bd4\u8f03\u7684\u306f\u3063\u304d\u308a\u51fa\u3084\u3059\u3044\u306e\u306b\u5bfe\u3057\u3001\u300c\u91cd\u8907\u300d\u75c7\u5019\u7fa4\u3067\u306f\u3001\u5916\u898b\u4e0a\u306e\u7279\u5fb4\u306f\u307b\u3068\u3093\u3069\u306a\u3044\u304b\u3001\u3042\u3063\u3066\u3082\u975e\u5e38\u306b\u8efd\u5fae\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong> \u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u56f2:<\/strong> \u5c0f\u982d\u75c7\u307e\u305f\u306f\u5927\u982d\u75c7\u306e\u4e21\u65b9\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9855\u8457\u306a\u7570\u5e38\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u8840\u7ba1\u7cfb\uff08\u5927\u52d5\u8108\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f<em>MYH11<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308a\u80f8\u90e8\u5927\u52d5\u8108\u7624\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\u306e\u5834\u5408\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306f\u307e\u3060\u8b70\u8ad6\u304c\u7d9a\u3044\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f\u3001\u91cd\u8907\u3067\u3042\u3063\u3066\u3082<strong>\u5927\u52d5\u8108\u62e1\u5f35\u3084\u89e3\u96e2\u306e\u30ea\u30b9\u30af<\/strong>\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\uff08<em>MYH11<\/em>\u306e\u904e\u5270\u767a\u73fe\u3084\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308b\uff09\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u6642\u70b9\u3067\u306f\u78ba\u5b9a\u7684\u306a\u30b3\u30f3\u30bb\u30f3\u30b5\u30b9\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5ff5\u306e\u305f\u3081\u6210\u4eba\u671f\u306b\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306a\u3069\u3067\u5927\u52d5\u8108\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u7a00\u306b\u3001\u5fc3\u81d3\u306e\u5148\u5929\u7570\u5e38\uff08\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\uff09\u3084\u9aa8\u683c\u7570\u5e38\uff08\u5074\u5f2f\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5076\u7136\u306e\u5408\u4f75\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u542b\u3081\u3066\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0816p13.11\uff09\u306b\u304a\u3051\u308bDNA\u914d\u5217\u306e\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u5897\u52a0\uff09\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u306e\u3053\u306e\u9818\u57df\u306b\u306f\u3001DNA\u306e\u5869\u57fa\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300cLCR\uff08\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff09\u300d\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u901a\u5e38\u3067\u3042\u308c\u3070\u67d3\u8272\u4f53\u306f\u6b63\u3057\u3044\u4f4d\u7f6e\u3067\u30da\u30a2\u3092\u7d44\u307f\u307e\u3059\u304c\u3001LCR\u304c\u3042\u308b\u305f\u3081\u306b\u300c\u4f3c\u3066\u3044\u308b\u3051\u308c\u3069\u9055\u3046\u5834\u6240\u300d\u3067\u30da\u30a2\u3092\u7d44\u3093\u3067\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u72b6\u614b\u3067\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u304c\u8d77\u3053\u308b\u3068\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u90e8\u5206\u7684\u306b\u6b20\u640d\uff08\u6b20\u5931\uff09\u3057\u3001\u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u90e8\u5206\u7684\u306b\u904e\u5270\uff08\u91cd\u8907\uff09\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u672c\u75c7\u5019\u7fa4\u306e\u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u300c\u611f\u53d7\u6027\u56e0\u5b50\u300d\u3068\u3044\u3046\u8003\u3048\u65b9<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3001\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u306e\u306b\u300c\u75c7\u72b6\u304c\u51fa\u308b\u4eba\u300d\u3068\u300c\u51fa\u306a\u3044\u4eba\uff08\u89aa\u306a\u3069\uff09\u300d\u304c\u3044\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u306f\u300c\u591a\u56e0\u5b50\u907a\u4f1d\uff08Multiple Hit Hypothesis\uff09\u300d\u3068\u3044\u3046\u8003\u3048\u65b9\u304c\u9069\u7528\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>16p13.11\u91cd\u8907<\/strong>\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u5bfe\u3057\u3066\u300c\u5c11\u3057\u3060\u3051\u5f31\u70b9\u3092\u4f5c\u308b\uff08\u611f\u53d7\u6027\u3092\u9ad8\u3081\u308b\uff09\u300d\u8981\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u5358\u72ec\u3067\u306f\u767a\u75c7\u306b\u81f3\u308a\u307e\u305b\u3093\u304c\u3001\u305d\u3053\u306b\u300c\u74b0\u5883\u8981\u56e0\u300d<strong>\uff08\u598a\u5a20\u4e2d\u306e\u30b9\u30c8\u30ec\u30b9\u3001\u51fa\u7523\u6642\u306e\u72b6\u6cc1\u306a\u3069\uff09\u3084\u3001<\/strong>\u300c\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u7684\u8981\u56e0\u300d\uff08\u5225\u306e\u67d3\u8272\u4f53\u306b\u3042\u308b\u5c0f\u3055\u306a\u5909\u7570\u306a\u3069\uff09\u304c\u7a4d\u307f\u91cd\u306a\u3063\u305f\u3068\u304d\u3001\u521d\u3081\u3066\u8a31\u5bb9\u91cf\u3092\u8d85\u3048\u3066\u300c\u767a\u9054\u969c\u5bb3\u300d\u3084\u300c\u7cbe\u795e\u75be\u60a3\u300d\u3068\u3057\u3066\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3064\u307e\u308a\u3001\u75c7\u72b6\u304c\u3042\u308b\u304a\u5b50\u3055\u3093\u306f\u3001\u3053\u306e\u91cd\u8907\u306b\u52a0\u3048\u3066\u300c\u4f55\u3089\u304b\u306e\u30d7\u30e9\u30b9\u30a2\u30eb\u30d5\u30a1\u306e\u8981\u56e0\u300d\u3092\u6301\u3063\u3066\u3044\u305f\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u5f62\u5f0f<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\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<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5bb6\u65cf\u6027\u306e\u5272\u5408\u304c\u9ad8\u3044:<\/strong> 16p13.11\u91cd\u8907\u306f\u3001De novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3088\u308a\u3082\u3001<strong>\u89aa\uff08\u591a\u304f\u306f\u7121\u75c7\u72b6\uff09\u304b\u3089\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b\u30b1\u30fc\u30b9\uff08\u5bb6\u65cf\u6027\uff09\u306e\u5272\u5408\u304c\u975e\u5e38\u306b\u9ad8\u3044<\/strong>\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3053\u306e\u91cd\u8907\u306f\u300c\u4f53\u8cea\u7684\u306a\u7279\u5fb4\u300d\u306b\u8fd1\u3044\u305f\u3081\u3001\u5fc5\u305a\u3057\u3082\u300c\u6cbb\u7642\u300d\u304c\u5fc5\u8981\u306a\u75c5\u6c17\u3068\u3044\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4f55\u3089\u304b\u306e\u56f0\u308a\u611f\u304c\u3042\u308b\u5834\u5408\u306b\u306e\u307f\u3001\u305d\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306b\u767a\u9054\u306e\u9045\u308c\u3084\u504f\u308a\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u305d\u308c\u305e\u308c\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2:<\/strong> \u904a\u3073\u3092\u901a\u3058\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\uff08ASD\u3078\u306e\u5bfe\u5fdc\uff09\u3084\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\uff08OT\uff09\u306a\u3069\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong> \u77e5\u7684\u306a\u9045\u308c\u304c\u306a\u304f\u3066\u3082\u3001\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3084ADHD\u7279\u6027\u306b\u3088\u3063\u3066\u5b66\u6821\u751f\u6d3b\u306b\u56f0\u96e3\u3092\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306e\u5229\u7528\u3084\u3001\u500b\u5225\u306e\u5b66\u7fd2\u8a08\u753b\u3001\u96c6\u4e2d\u3057\u3084\u3059\u3044\u74b0\u5883\u3065\u304f\u308a\u306a\u3069\u306e\u914d\u616e\u304c\u3001\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u5b88\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f97\u610f\u3092\u4f38\u3070\u3059:<\/strong> 16p13.11\u91cd\u8907\u3092\u6301\u3064\u4eba\u306e\u4e2d\u306b\u306f\u3001\u7279\u5b9a\u306e\u5206\u91ce\u306b\u512a\u308c\u305f\u624d\u80fd\u3092\u6301\u3064\u4eba\u3082\u3044\u307e\u3059\u3002\u82e6\u624b\u306a\u3053\u3068\u306e\u514b\u670d\u3060\u3051\u3067\u306a\u304f\u3001\u5f97\u610f\u306a\u3053\u3068\u306b\u6ce8\u76ee\u3057\u305f\u6559\u80b2\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u533b\u5b66\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\uff08\u601d\u6625\u671f\u4ee5\u964d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u306e\u76f8\u8ac7:<\/strong> \u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u3001\u6c17\u5206\u306e\u6ce2\u304c\u6fc0\u3057\u3044\u3001\u4e0d\u5b89\u304c\u5f37\u3044\u3001\u5e7b\u8074\u304c\u805e\u3053\u3048\u308b\u306a\u3069\u306e\u5909\u5316\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u3001\u65e9\u3081\u306b\u7cbe\u795e\u79d1\u5c02\u9580\u533b\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b9\u30c8\u30ec\u30b9\u7ba1\u7406:<\/strong> \u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u306f\u3001\u904e\u5ea6\u306a\u30b9\u30c8\u30ec\u30b9\u304c\u5f15\u304d\u91d1\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b89\u5fc3\u3057\u3066\u904e\u3054\u305b\u308b\u5bb6\u5ead\u74b0\u5883\u3084\u3001\u30b9\u30c8\u30ec\u30b9\u5bfe\u51e6\u6cd5\u3092\u8eab\u306b\u3064\u3051\u308b\u3053\u3068\u304c\u4e88\u9632\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u5faa\u74b0\u5668\u30c1\u30a7\u30c3\u30af:<\/strong> \u5fc5\u9808\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001<em>MYH11<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u91cd\u8907\u3067\u3042\u308b\u3053\u3068\u3092\u8003\u616e\u3057\u3001\u6210\u4eba\u671f\u306b\u4e00\u5ea6\u3001\u5fc3\u30a8\u30b3\u30fc\u3084MRI\u3067\u5927\u52d5\u8108\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\uff08\u7279\u306b\u5bb6\u7cfb\u5185\u306b\u5927\u52d5\u8108\u75be\u60a3\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u91cd\u8981\u6027<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u8a3a\u65ad\u3055\u308c\u305f\u5f8c\u306e\u300c\u89e3\u91c8\u300d\u304c\u975e\u5e38\u306b\u96e3\u3057\u3044\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u89aa\u306e\u305b\u3044\u300d\u3067\u306f\u306a\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u691c\u67fb\u306e\u7d50\u679c\u3001\u89aa\u5fa1\u3055\u3093\u306b\u3082\u540c\u3058\u91cd\u8907\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u89aa\u306e\u305b\u3044\u3067\u969c\u5bb3\u304c\u51fa\u305f\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u89aa\u5fa1\u3055\u3093\u304c\u7121\u75c7\u72b6\u3067\u5065\u5eb7\u306b\u904e\u3054\u305b\u3066\u3044\u308b\u4e8b\u5b9f\u306f\u3001\u3080\u3057\u308d\u300c\u3053\u306e\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5927\u4e08\u592b\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u300d\u3068\u3044\u3046\u5e0c\u671b\u306e\u8a3c\u62e0\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af\u3068\u4e88\u5f8c\u4e88\u6e2c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u3078\u306e\u907a\u4f1d\u78ba\u7387\u306f50%\u3067\u3059\u304c\u3001\u907a\u4f1d\u3057\u305f\u3068\u3057\u3066\u3082\u300c\u75c7\u72b6\u304c\u51fa\u306a\u3044\u300d\u300c\u8efd\u5ea6\u3067\u3042\u308b\u300d\u53ef\u80fd\u6027\u304c\u5341\u5206\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u51fa\u751f\u524d\u8a3a\u65ad\uff08\u7f8a\u6c34\u691c\u67fb\u7b49\uff09\u3067\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u3066\u3082\u3001\u751f\u307e\u308c\u3066\u304f\u308b\u5b50\u306e\u75c7\u72b6\uff08\u767a\u9054\u306e\u7a0b\u5ea6\uff09\u3092\u4e88\u6e2c\u3059\u308b\u3053\u3068\u306f<strong>\u4e0d\u53ef\u80fd<\/strong>\u3067\u3059\u3002\u3053\u306e\u4e0d\u78ba\u5b9f\u6027\u3068\u3069\u3046\u5411\u304d\u5408\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\u3068\u3058\u3063\u304f\u308a\u8a71\u3057\u5408\u3046\u6642\u9593\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>16p13.11 duplication syndrome\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306e\u60c5\u5831\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u91cd\u8907\u3092\u6301\u3064\u4eba\u306f\u3001\u793e\u4f1a\u3067\u666e\u901a\u306b\u751f\u6d3b\u3057\u3066\u3044\u308b\u5065\u5eb7\u306a\u4eba\u304b\u3089\u3001\u767a\u9054\u3084\u5fc3\u306e\u554f\u984c\u3092\u62b1\u3048\u308b\u4eba\u307e\u3067\u975e\u5e38\u306b\u5e45\u5e83\u304f\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u304c\u3064\u304f\u3068\u4e0d\u5b89\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u91cd\u8907\u306f\u300c\u75c5\u6c17\u306e\u6c7a\u5b9a\u6253\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u5c11\u3057\u30c7\u30ea\u30b1\u30fc\u30c8\u306a\u500b\u6027\u3092\u4f5c\u308b\u7a2e\u300d\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8981\u306a\u306e\u306f\u3001\u67d3\u8272\u4f53\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u76ee\u306e\u524d\u306b\u3044\u308b\u3054\u672c\u4eba\u306e\u300c\u56f0\u308a\u611f\u300d\u3067\u3059\u3002\u767a\u9054\u306e\u51f8\u51f9\u3084\u5fc3\u306e\u5909\u5316\u306b\u5bc4\u308a\u6dfb\u3044\u3001\u9069\u5207\u306a\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u4eba\u3089\u3057\u3044\u8c4a\u304b\u306a\u4eba\u751f\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\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>ClinGen Dosage Sensitivity Curation<\/strong>: <em>16p13.11 region<\/em>. (Evaluates evidence for triplosensitivity of genes like NDE1 and MYH11).<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>16p13 deletions and duplications<\/em> (2023). (Comprehensive guide for families).<\/li>\n\n\n\n<li><strong>Ullmann R, et al.<\/strong> (2007). <em>Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and\/or mental retardation.<\/em> Human Mutation.\n<ul class=\"wp-block-list\">\n<li>(\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u304c\u81ea\u9589\u75c7\u30ea\u30b9\u30af\u306b\u95a2\u4e0e\u3059\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u5148\u99c6\u7684\u7814\u7a76)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hannes FD, et al.<\/strong> (2009). <em>Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR\/MCA while the duplication may be a rare benign variant.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u521d\u671f\u306e\u7814\u7a76\u3067\u306f\u826f\u6027\u5909\u7570\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u7d4c\u7def\u304c\u308f\u304b\u308b\u6587\u732e\u3002\u73fe\u5728\u306f\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u518d\u8a55\u4fa1\u3055\u308c\u3066\u3044\u307e\u3059)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Nagamani SC, et al.<\/strong> (2011). <em>Clinical spectrum associated with recurrent genomic rearrangements in chromosome 16p13.11.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u81e8\u5e8a\u75c7\u72b6\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3001\u7279\u306b\u5927\u52d5\u8108\u75c5\u5909\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ingason A, et al.<\/strong> (2011). <em>Copy number variations of chromosome 16p13.1 region associated with schizophrenia.<\/em> Molecular Psychiatry.\n<ul class=\"wp-block-list\">\n<li>(\u7d71\u5408\u5931\u8abf\u75c7\u3068\u306e\u95a2\u9023\u6027\u3092\u5927\u898f\u6a21\u306b\u89e3\u6790\u3057\u305f\u7814\u7a76)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kuwano A, et al.<\/strong> (2016). <em>MYH11 mutation in a patient with 16p13.11 microdeletion syndrome.<\/em> (References the gene function relevant to duplication context as well).<\/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-16696","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\/16696","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16696\/revisions"}],"predecessor-version":[{"id":17613,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16696\/revisions\/17613"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16696"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}