{"id":16687,"date":"2026-01-19T08:33:31","date_gmt":"2026-01-19T08:33:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16687"},"modified":"2026-01-20T05:57:45","modified_gmt":"2026-01-20T05:57:45","slug":"16p11-2-p12-2-microduplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p11-2-p12-2-microduplication-syndrome\/","title":{"rendered":"16p11.2-p12.2 microduplication 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>16p11.2-p12.2\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>16p11.2-p12.2\u5927\u898f\u6a21\u91cd\u8907\uff08Large interstitial duplication 16p11.2-p12.2\uff09<\/li>\n\n\n\n<li>16p11.2-p12.2\u96a3\u63a5\u907a\u4f1d\u5b50\u91cd\u8907\u75c7\u5019\u7fa4\uff0816p11.2-p12.2 contiguous gene duplication syndrome\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc16p11.2-p12.2\uff08Partial trisomy 16p11.2-p12.2\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\uff0911.2\u9818\u57df\u304b\u308912.2\u9818\u57df\u306b\u304b\u3051\u3066<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\uff09\u306b\u3042\u308b\u300c11.2\u300d\u304b\u3089\u300c12.2\u300d\u306b\u81f3\u308b\u307e\u3067\u306e\u3001\u6bd4\u8f03\u7684\u5e83\u7bc4\u56f2\u306aDNA\u914d\u5217\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u9818\u57df\u306e\u91cd\u8981\u6027\u3068\u5e83\u304c\u308a\u3011<\/p>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u306f\u3001\u907a\u4f1d\u5b66\u7684\u5909\u7570\u304c\u751f\u3058\u3084\u3059\u3044\u300c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u300d\u3068\u547c\u3070\u308c\u308b\u9818\u57df\u304c\u8907\u6570\u5b58\u5728\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u81ea\u9589\u75c7\u611f\u53d7\u6027\u9818\u57df\u3068\u3057\u3066\u6709\u540d\u306a\u300c16p11.2\uff08\u8fd1\u4f4d\u90e8\uff09\u300d\u3084\u3001\u5225\u306e\u75be\u60a3\u5358\u4f4d\u3067\u3042\u308b\u300c16p12.2\u300d\u306a\u3069\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c16p11.2-p12.2 microduplication\u300d\u306f\u3001\u3053\u308c\u3089\u306e\u9818\u57df\u3092\u5305\u542b\u3059\u308b\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u9593\u306e\u9818\u57df\u3092\u542b\u3080\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u5358\u4f4d\u306e\u5927\u898f\u6a21\u306a\u91cd\u8907\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u8907\u30b5\u30a4\u30ba:<\/strong> \u7d047Mb\u301c9Mb\u306b\u53ca\u3076\u3053\u3068\u304c\u591a\u304f\u3001\u4e00\u822c\u7684\u306a\u300c\u5fae\u7d30\u91cd\u8907\uff08microduplication\uff09\u300d\u3068\u3044\u3046\u540d\u79f0\u304c\u3064\u3044\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u5b9f\u969b\u306b\u306f\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u3082\u78ba\u8a8d\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308b\u307b\u3069\u5927\u304d\u306a\u9818\u57df\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c:<\/strong> \u901a\u5e38\u3001\u30d2\u30c8\u306e\u907a\u4f1d\u5b50\u306f2\u672c\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3067\u3059\u304c\u3001\u3053\u306e\u91cd\u8907\u306b\u3088\u308a\u8a72\u5f53\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c3\u672c\uff08\u30c8\u30ea\u30bd\u30df\u30fc\u72b6\u614b\uff09\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u8133\u306e\u767a\u9054\u3001\u9aa8\u683c\u5f62\u6210\u3001\u7d30\u80de\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u308f\u308b\u591a\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u904e\u5270\u306b\u50cd\u304f\u3053\u3068\u3067\u69d8\u3005\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u203b\u7528\u8a9e\u306e\u6ce8\u610f:<\/strong> \u8a3a\u65ad\u540d\u306b\u300c16p11.2\u91cd\u8907\u300d\u3068\u3060\u3051\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u901a\u5e38\u306f\u5c0f\u3055\u306a\u300c\u8fd1\u4f4d\u90e8\u91cd\u8907\uff08\u7d04600kb\uff09\u300d\u3092\u6307\u3057\u307e\u3059\u3002\u672c\u9805\u3067\u89e3\u8aac\u3059\u308b\u306e\u306f\u3001\u305d\u308c\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u5e83\u7bc4\u56f2\u306ap11.2\u304b\u3089p12.2\u306b\u307e\u305f\u304c\u308b\u91cd\u8907\u306b\u3064\u3044\u3066\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>\u6975\u3081\u3066\u7a00\uff08Extremely Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u300c\u6b20\u5931\uff08deletion\uff09\u300d\u75c7\u5019\u7fa4\u306f2007\u5e74\u306b\u5831\u544a\u3055\u308c\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u8a8d\u77e5\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u9006\u3067\u3042\u308b\u300c\u91cd\u8907\uff08duplication\uff09\u300d\u306e\u5831\u544a\u4f8b\u306f\u3055\u3089\u306b\u5c11\u306a\u304f\u3001\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u75c7\u4f8b\u6570\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u983b\u5ea6\u306f1\u4e07\u4eba\u306b1\u4eba\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u5c11\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u5f8c\u8ff0\u3059\u308b\u3088\u3046\u306b\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u3066\u75c7\u72b6\u304c\u8efd\u5ea6\u3067\u3042\u308b\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u300c\u96a0\u308c\u305f\u4fdd\u56e0\u8005\uff08\u7121\u75c7\u72b6\u307e\u305f\u306f\u8efd\u5fae\u306a\u75c7\u72b6\u3092\u6301\u3064\u4eba\uff09\u300d\u304c\u4e00\u5b9a\u6570\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u767a\u898b\u6570\u306f\u5f90\u3005\u306b\u5897\u52a0\u3057\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>16p11.2-p12.2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u300c\u6975\u3081\u3066\u5f37\u3044\u500b\u4eba\u5dee\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u300d\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u9818\u57df\u306e\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u793a\u3059\u4eba\u3082\u3044\u308c\u3070\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\u3067\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u4eba\u3001\u3042\u308b\u3044\u306f\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u304c\u307b\u3068\u3093\u3069\u76ee\u7acb\u305f\u306a\u3044\u4eba\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306b\u3001\u540c\u3058\u9818\u57df\u306e\u300c\u6b20\u5931\u300d\u306b\u6bd4\u3079\u308b\u3068\u3001\u300c\u91cd\u8907\u300d\u306e\u65b9\u304c\u75c7\u72b6\u306f\u30de\u30a4\u30eb\u30c9\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308b\u3068\u907a\u4f1d\u5b66\u3067\u306f\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u9818\u57df\u306b\u95a2\u3057\u3066\u306f\u7bc4\u56f2\u304c\u5e83\u3044\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u795e\u7d4c\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u4e00\u822c\u7684\u306b\u89b3\u5bdf\u3055\u308c\u308b\u7279\u5fb4\u3067\u3059\u304c\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong> \u4e73\u5e7c\u5150\u671f\u306e\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6b63\u5e38\u7bc4\u56f2\u306e\u77e5\u80fd\u6307\u6570\uff08IQ\uff09\u3092\u6301\u3061\u306a\u304c\u3089\u3001\u7279\u5b9a\u306e\u5b66\u7fd2\u9818\u57df\u306b\u56f0\u96e3\u3092\u62b1\u3048\u308b\uff08\u5b66\u7fd2\u969c\u5bb3\uff09\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u3053\u3068\u304c\u591a\u304f\u3001\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u304c\u4e0d\u660e\u77ad\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u3044\u3001\u62b1\u304d\u306b\u304f\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/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<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\u96e3\u3057\u3055\u3001\u8996\u7dda\u3092\u5408\u308f\u305b\u306b\u304f\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3068\u3044\u3063\u305fASD\u306e\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3068\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\u885d\u52d5\u6027\u3001\u6ce8\u610f\u529b\u306e\u6301\u7d9a\u56f0\u96e3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u7cbe\u795e\u75c7\u72b6:<\/strong> \u4e0d\u5b89\u969c\u5bb3\u3001\u653b\u6483\u7684\u884c\u52d5\u3001\u6613\u523a\u6fc0\u6027\uff08\u30a4\u30e9\u30a4\u30e9\u3057\u3084\u3059\u3044\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u884c\u52d5\u7279\u6027\u306f\u3001\u74b0\u5883\u8981\u56e0\u3084\u7642\u80b2\u7684\u4ecb\u5165\u306b\u3088\u3063\u3066\u5909\u5316\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\uff08\u9854\u8c8c\u30fb\u5f62\u614b\uff09<\/strong><\/p>\n\n\n\n<p>\u7279\u7570\u7684\u306a\uff08\u3053\u306e\u75c5\u6c17\u3060\u3051\u3067\u898b\u3089\u308c\u308b\u3088\u3046\u306a\uff09\u9854\u8c8c\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5fae\u7d30\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u7570\u5f62\u6027\uff08dysmorphism\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u304c\u3001\u89aa\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c\u306e\u7279\u5fb4:<\/strong> \u5e73\u5766\u306a\u9854\u7acb\u3061\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u3001\u8033\u306e\u4f4d\u7f6e\u3084\u5f62\u306e\u7570\u5e38\u3001\u5c0f\u3055\u306a\u984e\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u56f2:<\/strong> 16p11.2\uff08\u8fd1\u4f4d\uff09\u91cd\u8907\u304c\u5c0f\u982d\u75c7\u306e\u50be\u5411\u304c\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001\u5e83\u7bc4\u56f2\u91cd\u8907\u3067\u306f\u5c0f\u982d\u75c7\u304b\u3089\u5927\u982d\u75c7\u307e\u3067\u69d8\u3005\u3067\u3042\u308a\u3001\u4e00\u5b9a\u306e\u50be\u5411\u306f\u5b9a\u307e\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u624b\u6307\u306e\u7570\u5e38:<\/strong> \u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306e\u77ed\u7e2e\u3084\u6e7e\u66f2\uff08\u5074\u5f2f\u6307\uff09\u3001\u624b\u638c\u306e\u3057\u308f\u306e\u7570\u5e38\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5e83\u7bc4\u56f2\u306a\u907a\u4f1d\u5b50\u91cd\u8907\u306b\u3088\u308a\u3001\u81d3\u5668\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3084\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u5408\u4f75\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u30ea\u30b9\u30af\u304c\u4e00\u822c\u96c6\u56e3\u3088\u308a\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong> \u810a\u67f1\u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u306e\u7de9\u3055\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u4f4e\u8eab\u9577\u30fb\u6210\u9577\u969c\u5bb3:<\/strong> \u80ce\u5150\u671f\u306e\u767a\u80b2\u4e0d\u5168\u3084\u3001\u51fa\u751f\u5f8c\u306e\u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9006\u306b\u4f53\u683c\u304c\u826f\u3044\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/p>\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\uff0816p\uff09\u306b\u304a\u3051\u308b\u5e83\u7bc4\u56f2\u306a\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u5897\u52a0\uff09\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u306a\u305c16\u756a\u67d3\u8272\u4f53\u3067\u8d77\u3053\u308b\u306e\u304b\uff1f<\/strong><\/p>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306f\u3001\u30d2\u30c8\u306e\u30b2\u30ce\u30e0\u306e\u4e2d\u3067\u3082\u7279\u306b\u69cb\u9020\u304c\u8907\u96d1\u306a\u9818\u57df\u3067\u3059\u3002\u3053\u3053\u306b\u306f\u300c\u5206\u7bc0\u91cd\u8907\uff08Segmental Duplications\uff09\u300d\u307e\u305f\u306f\u300c\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCR: Low Copy Repeats\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3001DNA\u306e\u5869\u57fa\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u30d6\u30ed\u30c3\u30af\u304c\u591a\u6570\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306eLCR\u306f\u3001\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u67d3\u8272\u4f53\u304c\u8907\u88fd\u3055\u308c\u308b\u969b\u3001\u3042\u308b\u3044\u306f\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u3001\u300c\u8aa4\u3063\u305f\u76ee\u5370\u300d\u3068\u3057\u3066\u6a5f\u80fd\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0\uff1a\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u67d3\u8272\u4f53\u306f\u6b63\u3057\u3044\u76f8\u624b\u3068\u30da\u30a2\u3092\u7d44\u307f\u307e\u3059\u304c\u300116p\u9818\u57df\u3067\u306f\u96e2\u308c\u305f\u5834\u6240\u306b\u3042\u308b\u4f3c\u305f\u914d\u5217\uff08LCR\uff09\u540c\u58eb\u304c\u8aa4\u3063\u3066\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\uff08\u60c5\u5831\u306e\u4ea4\u63db\uff09\u304c\u8d77\u3053\u308b\u3068\u3001\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9593\u306e\u9818\u57df\u304c\u629c\u3051\u843d\u3061\uff08\u6b20\u5931\uff09\u3001\u3082\u3046\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9593\u306e\u9818\u57df\u304c\u500d\u52a0\uff08\u91cd\u8907\uff09\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3092NAHR\uff08Non-Allelic Homologous Recombination\uff09\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>16p11.2-p12.2\u91cd\u8907\u306f\u3001p11.2\u306b\u3042\u308bLCR\u3068p12.2\u306b\u3042\u308bLCR\u306e\u9593\u3067\u3053\u306e\u30a8\u30e9\u30fc\u304c\u8d77\u3053\u308b\u3053\u3068\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong> \u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3001\u305d\u306e\u5b50\u3067\u521d\u3081\u3066\u767a\u751f\u3057\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong> \u89aa\u306e\u7247\u65b9\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u75c7\u72b6\u304c\u8efd\u3044\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u5b50\u4f9b\u304c\u8a3a\u65ad\u3055\u308c\u3066\u521d\u3081\u3066\u89aa\u3082\u691c\u67fb\u3092\u53d7\u3051\u3001\u5b9f\u306f\u89aa\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\uff08\u3057\u304b\u3057\u7121\u75c7\u72b6\u3084\u8efd\u5ea6\u306e\u75c7\u72b6\u3067\u751f\u6d3b\u3057\u3066\u3044\u305f\uff09\u3053\u3068\u304c\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u3066\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\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%\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u3092\u7de9\u548c\u3057\u3001\u304a\u5b50\u69d8\u306e\u767a\u9054\u3068\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u6700\u5927\u9650\u306b\u9ad8\u3081\u308b\u305f\u3081\u306e\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u300c\u7642\u80b2\u7684\u652f\u63f4\u300d\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5305\u62ec\u7684\u306a\u767a\u9054\u652f\u63f4\uff08\u65e9\u671f\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u6642\u70b9\u3001\u3042\u308b\u3044\u306f\u767a\u9054\u306e\u9045\u308c\u304c\u6c17\u306b\u306a\u3063\u305f\u6642\u70b9\u304b\u3089\u65e9\u671f\u4ecb\u5165\u3092\u884c\u3046\u3053\u3068\u304c\u4e88\u5f8c\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u904a\u3073\u3092\u53d6\u308a\u5165\u308c\u306a\u304c\u3089\u4f53\u306e\u52d5\u304b\u3057\u65b9\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u306e\u6539\u5584\u3084\u3001\u611f\u899a\u904e\u654f\u30fb\u920d\u9ebb\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff08\u611f\u899a\u7d71\u5408\u7642\u6cd5\uff09\u3001\u7740\u66ff\u3048\u3084\u98df\u4e8b\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3057\u307e\u3059\u3002\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u3067\u3082\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08AAC\uff09\u3092\u7528\u3044\u308b\u3053\u3068\u3067\u3001\u610f\u601d\u4f1d\u9054\u306e\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u8efd\u6e1b\u3057\u3001\u793e\u4f1a\u6027\u3092\u80b2\u3066\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b:<\/strong> \u77e5\u7684\u80fd\u529b\u3084\u884c\u52d5\u7279\u6027\u306b\u5408\u308f\u305b\u3066\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u6700\u9069\u306a\u5b66\u7fd2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0:<\/strong> ASD\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u3001\u96c6\u56e3\u751f\u6d3b\u3067\u306e\u30eb\u30fc\u30eb\u3084\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3092\u5177\u4f53\u7684\u306b\u5b66\u3076\u6a5f\u4f1a\u3092\u8a2d\u3051\u307e\u3059\u3002<\/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\u7684\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9:<\/strong> \u5fc3\u75be\u60a3\u3084\u9aa8\u683c\u7570\u5e38\u3001\u8074\u529b\u30fb\u8996\u529b\u306e\u554f\u984c\u304c\u306a\u3044\u304b\u3001\u8a3a\u65ad\u6642\u306b\u5168\u8eab\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u305d\u306e\u5f8c\u3082\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u7ba1\u7406:<\/strong> \u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30a2\u30d7\u30ed\u30fc\u30c1:<\/strong> \u591a\u52d5\u3084\u885d\u52d5\u6027\u3001\u4e0d\u5b89\u306a\u3069\u304c\u5f37\u304f\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u306f\u3001\u74b0\u5883\u8abf\u6574\u306b\u52a0\u3048\u3066\u85ac\u7269\u7642\u6cd5\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u60c5\u5831\u306e\u63d0\u4f9b:<\/strong> \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306b\u3088\u308a\u3001\u91cd\u8907\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\u3092\u77e5\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u7bc4\u56f2\u306b\u3088\u3063\u3066\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u4e88\u5f8c\u306e\u4e88\u6e2c\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u691c\u67fb\u306e\u691c\u8a0e:<\/strong> \u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u77e5\u308a\u305f\u3044\u5834\u5408\u3001\u3042\u308b\u3044\u306f\u304d\u3087\u3046\u3060\u3044\u3084\u89aa\u81ea\u8eab\u306e\u7279\u6027\u7406\u89e3\u306e\u305f\u3081\u306b\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u3092\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u89aa\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong> \u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u3084\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3092\u611f\u3058\u308b\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u91cd\u8981\u3067\u3059\u3002\u540c\u3058\u3088\u3046\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u3068\u306e\u9023\u643a\u3082\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>16p11.2-p12.2 microduplication syndrome\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306e\u60c5\u5831\u304c\u591a\u304f\u306a\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\u767a\u9054\u306e\u30da\u30fc\u30b9\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u3063\u305f\u308a\u3001\u8a00\u8449\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u82e6\u624b\u3055\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u4e00\u4eba\u3072\u3068\u308a\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u91cd\u8907\u304c\u3042\u308b\uff1d\u91cd\u3044\u969c\u5bb3\u300d\u3068\u306f\u9650\u3089\u305a\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u9069\u5207\u306a\u7642\u80b2\u30fb\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u30b9\u30ad\u30eb\u3092\u7372\u5f97\u3057\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u8c4a\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305a\u306f\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u82e6\u624b\u306a\u3053\u3068\u300d\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u3064\u3064\u3001\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3092\u4f38\u3070\u3057\u3066\u3044\u304f\u8996\u70b9\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>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>16p11.2 deletions and duplications<\/em> (General overview covering proximal and extended regions).<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>16p12 deletions and duplications<\/em> (References contiguous gene events).<\/li>\n\n\n\n<li><strong>Barber JC, et al.<\/strong> (2013). <em>16p11.2-p12.2 duplication syndrome; a genomic condition with a wide clinical spectrum.<\/em> (Specific case reports and review of the duplication phenotype).\n<ul class=\"wp-block-list\">\n<li>\u203b\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u306b\u7279\u5316\u3057\u305f\u6570\u5c11\u306a\u3044\u91cd\u8981\u306a\u6587\u732e\u3067\u3059\u3002\u81e8\u5e8a\u75c7\u72b6\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>16p11.2 region<\/em> \/ <em>16p12.2 region<\/em> \/ <em>16p11.2-p12.2<\/em>.\n<ul class=\"wp-block-list\">\n<li>(Evaluates the evidence for haploinsufficiency and triplosensitivity of genes in this region).<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 16p11.2-p12.2 duplications.<\/em><\/li>\n\n\n\n<li><strong>Finelli P, et al.<\/strong> (2004). <em>Molecular and cytogenetic characterization of a de novo interstitial duplication of 16p11.2-p12.1.<\/em> American Journal of Medical Genetics.<\/li>\n\n\n\n<li><strong>Ballif BC, et al.<\/strong> (2007). <em>Identification of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.<\/em> (Primary reference for the deletion, but discusses the mechanism relevant to duplication).<\/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-16687","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\/16687","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\/16687\/revisions"}],"predecessor-version":[{"id":16839,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16687\/revisions\/16839"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16687"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}