{"id":16680,"date":"2026-01-19T08:18:16","date_gmt":"2026-01-19T08:18:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16680"},"modified":"2026-01-20T06:02:25","modified_gmt":"2026-01-20T06:02:25","slug":"16p11-2-duplication-proximal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p11-2-duplication-proximal-syndrome\/","title":{"rendered":"16p11.2 duplication (proximal) 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\u91cd\u8907\u75c7\u5019\u7fa4\uff0816p11.2 duplication syndrome\uff09<\/li>\n\n\n\n<li>16p11.2\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff0816p11.2 microduplication syndrome\uff09<\/li>\n\n\n\n<li>16p11.2\u53cd\u5fa9\u9818\u57df\u91cd\u8907\uff08BP4-BP5\uff09\uff0816p11.2 recurrent duplication, BP4-BP5\uff09<\/li>\n\n\n\n<li>Dup16p11.2<\/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\uff08Proximal\uff1a\u8fd1\u4f4d\u90e8\uff09<\/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\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u7d04600\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306eDNA\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>\u5177\u4f53\u7684\u306b\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306eBP4\uff08Breakpoint 4\uff09\u304b\u3089BP5\uff08Breakpoint 5\uff09\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u53cd\u5fa9\u914d\u5217\uff08LCRs\uff09\u306b\u631f\u307e\u308c\u305f\u533a\u9593\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b2\u30ce\u30e0\u5ea7\u6a19\uff08GRCh37\/hg19\uff09\uff1a<\/strong> chr16: 29,600,000 \u2013 30,200,000 \u4ed8\u8fd1<\/li>\n\n\n\n<li><strong>\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\uff1a<\/strong> \u7d0425\u301c29\u500b\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u30b3\u30fc\u30c9\u907a\u4f1d\u5b50<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u300116p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u5931\u308f\u308c\u308b\u9818\u57df\u3068\u5168\u304f\u540c\u3058\u5834\u6240\u3067\u3059\u3002\u3064\u307e\u308a\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u907a\u4f1d\u5b50\u304c\u300c1\u30b3\u30d4\u30fc\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u300d\u306b\u306a\u308b\u306e\u306b\u5bfe\u3057\u3001\u672c\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u907a\u4f1d\u5b50\u304c\u300c3\u30b3\u30d4\u30fc\uff08\u904e\u5270\uff09\u300d\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u69d8\u3005\u306a\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u3001\u7d30\u80de\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u3082\u306e\u304c\u591a\u6570\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>KCTD13:<\/strong> \u982d\u56f2\uff08\u8133\u306e\u30b5\u30a4\u30ba\uff09\u3084\u4f53\u91cd\u8abf\u7bc0\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>MAPK3 \/ MVP \/ ALDOA \/ TBX6:<\/strong> \u7d30\u80de\u5897\u6b96\u3084\u9aa8\u683c\u5f62\u6210\u3001\u795e\u7d4c\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u203b\u6ce8\u610f\uff1a<\/strong> 16p11.2\u9818\u57df\u306b\u306f\u300c\u9060\u4f4d\uff08Distal \/ BP2-BP3\uff09\u300d\u306e\u91cd\u8907\u3082\u5b58\u5728\u3057\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u533b\u5b66\u6587\u732e\u3084\u81e8\u5e8a\u73fe\u5834\u3067\u5358\u306b\u300c16p11.2\u91cd\u8907\u300d\u3068\u8a00\u53ca\u3055\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u300c\u8fd1\u4f4d\uff08Proximal \/ BP4-BP5\uff09\u300d\u306e\u91cd\u8907\u3092\u6307\u3059\u3053\u3068\u304c\u5927\u534a\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u3082\u3053\u306eBP4-BP5\u9818\u57df\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d041,000\u4eba\u301c2,500\u4eba\u306b1\u4eba\uff08\u983b\u5ea6\u306f\u9ad8\u3044\u304c\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u4f8b\u304c\u591a\u3044\uff09<\/strong><\/p>\n\n\n\n<p>16p11.2\u91cd\u8907\u306f\u3001\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u3067\u691c\u51fa\u3055\u308c\u308b\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08CNV\uff09\u306e\u4e2d\u3067\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u3082\u306e\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u5f8c\u8ff0\u3059\u308b\u3088\u3046\u306b\u75c7\u72b6\u306b\u306f\u975e\u5e38\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u5168\u304f\u75c7\u72b6\u304c\u306a\u3044\uff08\u7121\u75c7\u5019\u6027\uff09\u307e\u307e\u751f\u6d3b\u3057\u3066\u3044\u308b\u6210\u4eba\u3082\u591a\u6570\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u983b\u5ea6\u306e\u628a\u63e1\u306f\u56f0\u96e3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e00\u822c\u96c6\u56e3\u3067\u306e\u63a8\u8a08:<\/strong> \u51fa\u751f\u5150\u306e\u7d041\/1,000\u301c1\/2,500\u7a0b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u96c6\u56e3\u3067\u306e\u691c\u51fa\u7387:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u60a3\u8005\u306e\u7d040.5\u301c1%<\/li>\n\n\n\n<li>\u7d71\u5408\u5931\u8abf\u75c7\u60a3\u8005\u306e\u7d040.5%<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u3001\u591a\u767a\u5947\u5f62\u3092\u6301\u3064\u5c0f\u5150\u306e\u691c\u67fb\u306b\u304a\u3044\u3066\u3082\u3057\u3070\u3057\u3070\u691c\u51fa\u3055\u308c\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>16p11.2\u91cd\u8907\u75c7\u5019\u7fa4\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>\u3053\u308c\u306f\u3001\u300c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5fc5\u305a\u3057\u3082\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u3044\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u300d\u3057\u3001\u300c\u767a\u75c7\u3057\u3066\u3082\u75c7\u72b6\u306e\u91cd\u3055\u3084\u7a2e\u985e\u306f\u4eba\u306b\u3088\u3063\u3066\u5168\u304f\u7570\u306a\u308b\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u300d\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u767a\u9054\u969c\u5bb3\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u901a\u5e38\u5b66\u7d1a\u306b\u901a\u3044\u5927\u5b66\u3078\u9032\u5b66\u3059\u308b\u304a\u5b50\u3055\u3093\u3082\u304a\u308a\u3001\u307e\u305f\u89aa\u5fa1\u3055\u3093\u304c\u691c\u67fb\u3092\u53d7\u3051\u3066\u521d\u3081\u3066\u81ea\u8eab\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u3053\u3068\u304c\u5224\u660e\u3059\u308b\uff08\u89aa\u306f\u7121\u75c7\u72b6\u307e\u305f\u306f\u8efd\u5fae\uff09\u30b1\u30fc\u30b9\u3082\u975e\u5e38\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u304c\u3001\u3053\u308c\u3089\u5168\u3066\u304c\u5168\u54e1\u306b\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>1. 16p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u300c\u93e1\u50cf\u95a2\u4fc2\uff08Mirror Phenotype\uff09\u300d<\/strong><\/p>\n\n\n\n<p>\u540c\u3058\u9818\u57df\u306e\u300c\u6b20\u5931\u300d\u3068\u300c\u91cd\u8907\u300d\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u306b\u304a\u3044\u3066\u6b63\u53cd\u5bfe\uff08\u93e1\u5199\u3057\uff09\u306e\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u91cd:<\/strong> \u6b20\u5931\u304c\u300c\u80a5\u6e80\u300d\u306b\u306a\u308a\u3084\u3059\u3044\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u306f\u300c\u4f4e\u4f53\u91cd\uff08\u75e9\u8eab\u50be\u5411\uff09\u300d\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u4e73\u5e7c\u5150\u671f\u306e\u54fa\u4e73\u4e0d\u826f\u3084\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\n\n\n<li><strong>\u982d\u56f2:<\/strong> \u6b20\u5931\u304c\u300c\u5927\u982d\u75c7\uff08\u982d\u304c\u5927\u304d\u3044\uff09\u300d\u306b\u306a\u308a\u3084\u3059\u3044\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u306f\u300c\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u300d\u306e\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u6975\u7aef\u306a\u5c0f\u982d\u75c7\u306b\u306a\u308b\u3053\u3068\u306f\u7a00\u3067\u3001\u5e73\u5747\u3088\u308a\u3084\u3084\u5c0f\u3055\u3081\u7a0b\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u6b69\u304d\u59cb\u3081\u306a\u3069\uff09\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001\u8a00\u8449\u306e\u9045\u308c\uff08\u767a\u8a9e\u9045\u5ef6\uff09\u3084\u3001\u69cb\u97f3\uff08\u767a\u97f3\uff09\u306e\u4e0d\u660e\u77ad\u3055\u304c\u53d7\u8a3a\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u6a5f\u80fd:<\/strong> \u77e5\u80fd\u6307\u6570\uff08IQ\uff09\u306e\u5206\u5e03\u306f\u975e\u5e38\u306b\u5e45\u5e83\u3044\u3067\u3059\u3002\u5e73\u5747\u7684\u306a\u77e5\u80fd\u3092\u6301\u3064\u65b9\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u91cd\u8907\u3092\u6301\u305f\u306a\u3044\u5bb6\u65cf\u3068\u6bd4\u8f03\u3059\u308b\u3068\u3001IQ\u30b9\u30b3\u30a2\u304c\u5e73\u5747\u3057\u306610\u301c20\u30dd\u30a4\u30f3\u30c8\u7a0b\u5ea6\u4f4e\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u306f\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u308b\u3068\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09:<\/strong> \u77e5\u7684\u969c\u5bb3\u304c\u306a\u304f\u3066\u3082\u3001\u8aad\u307f\u66f8\u304d\u3084\u8a08\u7b97\u306a\u3069\u306e\u7279\u5b9a\u306e\u5b66\u7fd2\u30b9\u30ad\u30eb\u306b\u56f0\u96e3\u3055\u3092\u62b1\u3048\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u7279\u6027\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>16p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001\u6700\u3082\u6ce8\u610f\u6df1\u304f\u89b3\u5bdf\u304c\u5fc5\u8981\u306a\u306e\u304c\u3053\u306e\u7cbe\u795e\u30fb\u884c\u52d5\u9762\u306e\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> \u60a3\u8005\u3055\u3093\u306e\u7d0420\u301c25%\u306bASD\u306e\u8a3a\u65ad\u304c\u3064\u304f\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u96e3\u3057\u3055\u3084\u3001\u3053\u3060\u308f\u308a\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09:<\/strong> \u6ce8\u610f\u6563\u6f2b\u3001\u591a\u52d5\u3001\u885d\u52d5\u6027\u306a\u3069\u306e\u7279\u5fb4\u304c\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7d71\u5408\u5931\u8abf\u75c7\uff08Schizophrenia\uff09\u306e\u30ea\u30b9\u30af:<br>\u3053\u308c\u304c\u672c\u75be\u60a3\u306e\u533b\u5b66\u7684\u306b\u6700\u3082\u91cd\u8981\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u300216p11.2\u91cd\u8907\u3092\u6301\u3064\u4eba\u306f\u3001\u6301\u305f\u306a\u3044\u4eba\u306b\u6bd4\u3079\u3066\u3001\u5c06\u6765\u7684\u306b\u7d71\u5408\u5931\u8abf\u75c7\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\uff08\u4e00\u822c\u4eba\u53e3\u306e\u30ea\u30b9\u30af\u7d041%\u306b\u5bfe\u3057\u3001\u6570\u500d\u301c10\u500d\u7a0b\u5ea6\u306e\u30ea\u30b9\u30af\u4e0a\u6607\u3068\u3044\u3046\u7814\u7a76\u3082\u3042\u308a\u307e\u3059\uff09\u3002<br>\u3082\u3061\u308d\u3093\u3001\u91cd\u8907\u3092\u6301\u3064\u4eba\u5168\u54e1\u304c\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u306e\u7cbe\u795e\u7684\u306a\u5909\u5316\u306b\u306f\u7559\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u7cbe\u795e\u75c7\u72b6:<\/strong> \u4e0d\u5b89\u969c\u5bb3\u3001\u53cc\u6975\u6027\u969c\u5bb3\u3001\u3046\u3064\u50be\u5411\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u5408\u4f75\u75c7\u30fb\u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u5947\u5f62\u3084\u5408\u4f75\u75c7\u306f\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u75be\u60a3\u306b\u6bd4\u3079\u308b\u3068\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c:<\/strong> \u7d0410\u301c20%\u7a0b\u5ea6\u306e\u60a3\u8005\u3055\u3093\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u304c\u3001\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u7d30\u306a\u5f62\u614b\u7570\u5e38:<\/strong> \u9854\u3064\u304d\u306e\u7279\u5fb4\uff08\u5e73\u5766\u306a\u9854\u8c8c\u3001\u6df1\u3044\u773c\u7aa9\u306a\u3069\uff09\u3084\u3001\u624b\u6307\u306e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u5b9a\u306e\u300c\u9854\u8c8c\u300d\u3060\u3051\u3067\u8a3a\u65ad\u3067\u304d\u308b\u307b\u3069\u7279\u5fb4\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u814e\u81d3\u30fb\u5c3f\u8def\u7cfb\u306e\u7570\u5e38:<\/strong> \u7a00\u306b\u6c34\u814e\u75c7\u306a\u3069\u306e\u814e\u5947\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0816p11.2 BP4-BP5\uff09\u306b\u304a\u3051\u308b\u3001\u7d04600kb\u306e\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\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>\u30d2\u30c8\u306e\u7d30\u80de\u5185\u3067\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u300c\u6e1b\u6570\u5206\u88c2\u300d\u306e\u904e\u7a0b\u306b\u304a\u3044\u3066\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u30a8\u30e9\u30fc\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>16p11.2\u9818\u57df\u306b\u306f\u3001LCR\uff08\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff09\u3068\u547c\u3070\u308c\u308b\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u30d6\u30ed\u30c3\u30af\u304c\u8907\u6570\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u30da\u30a2\u3092\u4f5c\u3063\u3066\u3057\u307e\u3044\u3001\u305d\u306e\u72b6\u614b\u3067\u7d44\u63db\u3048\u304c\u8d77\u3053\u308b\u3068\u3001\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u306b\u306f\u300c\u6b20\u5931\uff08Deletion\uff09\u300d\u304c\u3001\u3082\u3046\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u306b\u306f\u300c\u91cd\u8907\uff08Duplication\uff09\u300d\u304c\u751f\u3058\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><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u5e38\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u306f2\u3064\u306e\u30b3\u30d4\u30fc\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u3053\u308c\u304c3\u3064\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u6570\u304c\u5897\u3048\u308b\u3068\u3001\u305d\u3053\u304b\u3089\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u3082\u904e\u5270\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u904e\u5270\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u3001\u8133\u306e\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u3084\u30b7\u30ca\u30d7\u30b9\u306e\u6a5f\u80fd\u3001\u7d30\u80de\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u5fae\u5999\u306a\u30d0\u30e9\u30f3\u30b9\u3092\u4e71\u3059\u3053\u3068\u3067\u3001\u69d8\u3005\u306a\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001KCTD13\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u306f\u3001\u795e\u7d4c\u7d30\u80de\u306e\u751f\u6210\u3084\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u7d30\u80de\u6b7b\uff09\u306e\u5236\u5fa1\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u8133\u306e\u30b5\u30a4\u30ba\uff08\u5c0f\u982d\u75c7\uff09\u3084\u4f53\u91cd\u5236\u5fa1\uff08\u75e9\u305b\uff09\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u3044\u3046\u7814\u7a76\u7d50\u679c\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5f62\u5f0f\u3068\u5bb6\u65cf\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09\u306e\u5272\u5408\u304c\u9ad8\u3044:<\/strong> 16p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\u304cDe novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u6bd4\u8f03\u7684\u591a\u3044\uff08\u7d0460\u301c70%\u3068\u3082\u5831\u544a\u3055\u308c\u308b\uff09\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u30de\u30a4\u30eb\u30c9\u3067\u3001\u89aa\u81ea\u8eab\u304c\u8a3a\u65ad\u3055\u308c\u305a\u306b\u7d50\u5a5a\u30fb\u51fa\u7523\u3092\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u305f\u3081\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\uff09:<\/strong> \u3082\u3061\u308d\u3093\u3001\u4e21\u89aa\u306f\u6301\u3063\u3066\u304a\u3089\u305a\u3001\u305d\u306e\u5b50\u3067\u521d\u3081\u3066\u767a\u751f\u3057\u305f\u7a81\u7136\u5909\u7570\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u512a\u6027\u907a\u4f1d\u5f62\u5f0f:<\/strong> \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<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u3001\u4f59\u5206\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\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u500b\u3005\u306e\u60a3\u8005\u3055\u3093\u306b\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u3092\u7de9\u548c\u3057\u3001\u6301\u3063\u3066\u3044\u308b\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u4f38\u3070\u3059\u305f\u3081\u306e\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u300c\u7642\u80b2\u7684\u30fb\u6559\u80b2\u7684\u652f\u63f4\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65e9\u671f\u7642\u80b2\u3068\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u6642\u70b9\u3067\u3001\u767a\u9054\u306e\u8a55\u4fa1\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u652f\u63f4\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u767a\u97f3\u306e\u554f\u984c\u306b\u5bfe\u3057\u3066\u4ecb\u5165\u3057\u307e\u3059\u3002\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u306f\u3001\u304b\u3093\u3057\u3083\u304f\u3084\u884c\u52d5\u554f\u984c\u306e\u8efd\u6e1b\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\/ \u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u5fae\u7d30\u904b\u52d5\uff08\u624b\u5148\uff09\u3084\u7c97\u5927\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\u304c\u3042\u308b\u5834\u5408\u3001\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u3082OT\u304c\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong> \u5b66\u6821\u751f\u6d3b\u306b\u304a\u3044\u3066\u306f\u3001\u77e5\u7684\u306a\u9045\u308c\u304c\u306a\u304f\u3066\u3082\u300c\u8aad\u307f\u66f8\u304d\u304c\u82e6\u624b\u300d\u300c\u96c6\u4e2d\u529b\u304c\u7d9a\u304b\u306a\u3044\u300d\u3068\u3044\u3063\u305f\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u901a\u7d1a\u6307\u5c0e\u3084\u500b\u5225\u306e\u6307\u5c0e\u8a08\u753b\uff08IEP\uff09\u3092\u6d3b\u7528\u3057\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u5b66\u7fd2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u30fb\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8\uff08\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306b\u5fdc\u3058\u305f\u5bfe\u5fdc\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u5150\u671f:<\/strong> ASD\u3084ADHD\u306e\u7279\u6027\u306b\u5bfe\u3057\u3066\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u306e\u7642\u80b2\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u3084\u3001\u30da\u30a2\u30ec\u30f3\u30c8\u30fb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u306b\u3088\u308b\u74b0\u5883\u8abf\u6574\u304c\u6709\u52b9\u3067\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u85ac\u7269\u7642\u6cd5\u3082\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u601d\u6625\u671f\u4ee5\u964d\uff08\u91cd\u8981\uff09:<\/strong> \u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3092\u8003\u616e\u3057\u3001<strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u6025\u6fc0\u306a\u5f15\u304d\u3053\u3082\u308a\u3001\u5e7b\u8074\u3001\u5984\u60f3\u7684\u306a\u8a00\u52d5\u3001\u6975\u7aef\u306a\u4e0d\u5b89\u306a\u3069\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u306f\u3001\u65e9\u671f\u306b\u7cbe\u795e\u79d1\u5c02\u9580\u533b\u3078\u76f8\u8ac7\u3067\u304d\u308b\u4f53\u5236\u3092\u4f5c\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u4ecb\u5165\u306b\u3088\u308a\u3001\u4e88\u5f8c\u3092\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30fb\u6804\u990a\u7ba1\u7406:<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u304c\u3042\u308b\u5834\u5408\u3001\u6804\u990a\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u7ba1\u7406:<\/strong> \u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u5065\u8a3a:<\/strong> \u8996\u529b\u30fb\u8074\u529b\u691c\u67fb\u3084\u3001\u5074\u5f2f\u75c7\u306a\u3069\u306e\u30c1\u30a7\u30c3\u30af\u3092\u901a\u5e38\u306e\u5065\u8a3a\u306e\u4e2d\u3067\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5bb6\u65cf\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u5b50\u691c\u67fb:<\/strong> \u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u4fdd\u56e0\u8005\u8a3a\u65ad\uff09\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1\u3060\u3051\u3067\u306a\u304f\u3001\u4ed6\u306e\u304d\u3087\u3046\u3060\u3044\u3084\u89aa\u81ea\u8eab\u306e\u5065\u5eb7\u7ba1\u7406\uff08\u6f5c\u5728\u7684\u306a\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af\u3084\u7279\u6027\u306e\u7406\u89e3\uff09\u306b\u3082\u5f79\u7acb\u3064\u305f\u3081\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\u300d\u306e\u8aac\u660e:<\/strong> \u89aa\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u300d\u3068\u7f6a\u60aa\u611f\u3092\u611f\u3058\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5065\u5eb7\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u4eba\u306f\u5927\u52e2\u3044\u307e\u3059\u3002\u5c02\u9580\u5bb6\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\u304b\u3089\u3001\u6b63\u3057\u3044\u60c5\u5831\u3068\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u60a3\u8005\u4f1a\u30fb\u30d4\u30a2\u30b5\u30dd\u30fc\u30c8:<\/strong> Simons Searchlight\u3084Unique\u306a\u3069\u306e\u60a3\u8005\u56e3\u4f53\u3084\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u306b\u53c2\u52a0\u3057\u3001\u60c5\u5831\u4ea4\u63db\u3092\u884c\u3046\u3053\u3068\u306f\u5bb6\u65cf\u306e\u5927\u304d\u306a\u652f\u3048\u306b\u306a\u308a\u307e\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 duplication (proximal) 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\u3053\u306e\u4f53\u8cea\u3092\u6301\u3064\u4eba\u306f\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u5b66\u7fd2\u306e\u82e6\u624b\u3055\u3001ASD\u306a\u3069\u306e\u767a\u9054\u7279\u6027\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u65b9\u3067\u969b\u7acb\u3063\u305f\u624d\u80fd\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3001\u5168\u304f\u75c7\u72b6\u304c\u306a\u304f\u793e\u4f1a\u3067\u6d3b\u8e8d\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u91cd\u8907\u304c\u3042\u308b\uff1d\u91cd\u3044\u969c\u5bb3\u300d\u3068\u76f4\u7d50\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u75c7\u72b6\u306e\u5e45\u304c\u975e\u5e38\u306b\u5e83\u3044\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u5c06\u6765\u7684\u306a\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u4e0d\u8abf\u306e\u30ea\u30b9\u30af\u304c\u5c11\u3057\u9ad8\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u305d\u306e\u5b50\u306e\u7279\u6027\u3092\u7406\u89e3\u3057\u3001\u767a\u9054\u652f\u63f4\u3092\u884c\u3046\u3068\u3068\u3082\u306b\u3001\u601d\u6625\u671f\u4ee5\u964d\u3082\u7d99\u7d9a\u7684\u306b\u5fc3\u8eab\u306e\u5065\u5eb7\u3092\u898b\u5b88\u3063\u3066\u3044\u304f\u3001\u606f\u306e\u9577\u3044\u30b5\u30dd\u30fc\u30c6\u30a3\u30d6\u306a\u74b0\u5883\u3065\u304f\u308a\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: 16p11.2 Recurrent Deletion \/ Duplication. Initial Posting: February 21, 2008; Last Update: December 10, 2020. <em>Author: Rainey L, et al.<\/em><\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: 16p11.2 Microduplications (BP4-BP5). <em>Comprehensive guide for families.<\/em><\/li>\n\n\n\n<li><strong>Simons Searchlight<\/strong>: 16p11.2 duplication syndrome Information Guide.<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: 16p11.2 recurrent region (proximal, BP4-BP5).<\/li>\n\n\n\n<li><strong>Niarchou M, et al.<\/strong> (2019). Psychiatric disorders in children with 16p11.2 deletion and duplication. <em>Translational Psychiatry<\/em>.<\/li>\n\n\n\n<li><strong>D&#8217;Angelo, et al.<\/strong> (2016). The 16p11.2 deletion and duplication: Understanding the genetic causes of autism and schizophrenia. <em>Trends in Neurosciences<\/em>.<\/li>\n\n\n\n<li><strong>Jacquemont S, et al.<\/strong> (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. <em>Nature<\/em>.<\/li>\n\n\n\n<li><strong>McCarthy SE, et al.<\/strong> (2009). Microduplications of 16p11.2 are associated with schizophrenia. <em>Nature Genetics<\/em>.<\/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-16680","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\/16680","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\/16680\/revisions"}],"predecessor-version":[{"id":16841,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16680\/revisions\/16841"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16680"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}