{"id":16671,"date":"2026-01-19T08:04:24","date_gmt":"2026-01-19T08:04:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16671"},"modified":"2026-01-20T06:04:18","modified_gmt":"2026-01-20T06:04:18","slug":"16p11-2-deletion-proximal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p11-2-deletion-proximal-syndrome\/","title":{"rendered":"16p11.2 deletion (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\u6b20\u5931\u75c7\u5019\u7fa4\uff0816p11.2 deletion syndrome\uff09<\/li>\n\n\n\n<li>16p11.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0816p11.2 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>16p11.2\u53cd\u5fa9\u9818\u57df\u6b20\u5931\uff08BP4-BP5\uff09\uff0816p11.2 recurrent deletion, BP4-BP5\uff09<\/li>\n\n\n\n<li>Susceptibility to Autism 1 (AUTS14) \u203b\u81ea\u9589\u75c7\u611f\u53d7\u6027\u9818\u57df\u3068\u3057\u3066\u306e\u540d\u79f0<\/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>\u3053\u306e\u75be\u60a3\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u7d04600\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306eDNA\u914d\u5217\u304c\u6b20\u843d\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u3001\u5c02\u9580\u7684\u306b\u306fBP4\uff08Breakpoint 4\uff09\u3068BP5\uff08Breakpoint 5\uff09\u3068\u547c\u3070\u308c\u308b\u3001\u67d3\u8272\u4f53\u306e\u300c\u5207\u308c\u76ee\u300d\u306b\u306a\u308a\u3084\u3059\u3044\u53cd\u5fa9\u914d\u5217\uff08Low Copy Repeats: LCRs\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\u6570\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\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\uff08<em>KCTD13<\/em>\u3001<em>MAPK3<\/em>\u3001<em>ALDOA<\/em>\u3001<em>PRRT2<\/em>\u3001<em>TBX6<\/em>\u306a\u3069\uff09\u306f\u3001\u8133\u306e\u767a\u9054\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u3001\u7d30\u80de\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u6a5f\u80fd\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u306e\u67d3\u8272\u4f53\u304b\u3089\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u3001\u591a\u69d8\u306a\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<strong>\u203b\u6ce8\u610f\uff1a<\/strong> 16p11.2\u9818\u57df\u306b\u306f\u300c\u9060\u4f4d\uff08Distal\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u5225\u306e\u6b20\u5931\u9818\u57df\uff08BP2-BP3\u306a\u3069\uff09\u3082\u5b58\u5728\u3057\u307e\u3059\u304c\u3001\u672c\u8a18\u4e8b\u3067\u306f\u6700\u3082\u4ee3\u8868\u7684\u306a\u300c\u8fd1\u4f4d\uff08Proximal \/ BP4-BP5\uff09\u300d\u6b20\u5931\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u4e00\u822c\u7684\u306b\u300c16p11.2\u6b20\u5931\u300d\u3068\u8a00\u308f\u308c\u305f\u5834\u5408\u3001\u3053\u306eBP4-BP5\u9818\u57df\u3092\u6307\u3059\u3053\u3068\u304c\u5927\u534a\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>\u7d042,000\u4eba\u301c3,000\u4eba\u306b1\u4eba\uff08\u51fa\u751f\u5150\uff09<\/strong><\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09\u3067\u306f\u691c\u51fa\u304c\u96e3\u3057\u3044\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8a3a\u65ad\u6570\u304c\u5927\u5e45\u306b\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u96c6\u56e3\u3067\u306e\u983b\u5ea6\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u4eba\u306e\u7d041%\uff08\u7d04100\u4eba\u306b1\u4eba\uff09\u306b\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u3092\u6301\u3064\u4eba\u306e\u7d040.5\u301c1%\u306b\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9ad8\u5ea6\u80a5\u6e80\u306e\u5c0f\u5150\u306e\u7d040.5%\u306b\u898b\u3064\u304b\u308b\u3068\u3055\u308c\u3066\u3044\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\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u306f\u3001\u300c\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\uff08\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff09\u300d<strong>\u3068<\/strong>\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u307b\u3068\u3093\u3069\u51fa\u306a\u3044\uff09\u300d\u306b\u3042\u308a\u307e\u3059\u3002\u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u6301\u3064\u65b9\u3082\u3044\u308c\u3070\u3001\u901a\u5e38\u5b66\u7d1a\u306b\u901a\u3044\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u306f\u4ee5\u4e0b\u306e4\u3064\u306e\u30ab\u30c6\u30b4\u30ea\u30fc\u306b\u5206\u985e\u3055\u308c\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\u306a\u7279\u5fb4\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u89aa\u5fa1\u3055\u3093\u304c\u6700\u521d\u306b\u6c17\u3065\u304f\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c:<\/strong> \u304a\u5ea7\u308a\u3084\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u7279\u306b\u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002\u300c\u5c0f\u5150\u671f\u767a\u8a9e\u5931\u884c\uff08\u8a00\u3044\u305f\u3044\u97f3\u3092\u3046\u307e\u304f\u4f5c\u308c\u306a\u3044\u72b6\u614b\uff09\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u8a00\u8449\u304c\u51fa\u59cb\u3081\u308b\u306e\u304c2\u6b73\u301c3\u6b73\u4ee5\u964d\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u6a5f\u80fd:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u5e45\u5e83\u304f\u3001\u5e73\u5747\u7684\u306a\u77e5\u80fd\uff08IQ 85\u4ee5\u4e0a\uff09\u3092\u6301\u3064\u65b9\u3082\u3044\u308c\u3070\u3001\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\u3092\u6301\u3064\u65b9\u3082\u3044\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u77e5\u80fd\u6307\u6570\u306f\u89aa\u65cf\u306e\u5e73\u5747\u3088\u308a\u308215\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\u304c\u3001\u5fc5\u305a\u3057\u3082\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u3044\u3001\u529b\u304c\u5f31\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\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\u533b\u5b66\u7684\u7279\u5fb4<\/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> \u60a3\u8005\u3055\u3093\u306e\u7d0415\u301c20%\u304cASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u8a3a\u65ad\u306b\u81f3\u3089\u306a\u304f\u3066\u3082\u3001\u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3084\u3001\u3053\u3060\u308f\u308a\u3092\u6301\u3064\u5834\u5408\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\u529b\u306e\u6301\u7d9a\u56f0\u96e3\u3084\u591a\u52d5\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5\u7279\u6027:<\/strong> \u7761\u7720\u969c\u5bb3\u3001\u4e0d\u5b89\u969c\u5bb3\u3001\u653b\u6483\u7684\u884c\u52d5\u306a\u3069\u304c\u4e00\u90e8\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u4ee3\u8b1d\u7570\u5e38\uff08\u80a5\u6e80\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u5927\u304d\u306a\u7279\u5fb4\u3068\u3057\u3066\u300c\u80a5\u6e80\u300d\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u91cd\u5897\u52a0:<\/strong> \u51fa\u751f\u6642\u306e\u4f53\u91cd\u306f\u5e73\u5747\u7684\u3001\u3042\u308b\u3044\u306f\u3084\u3084\u5c0f\u3055\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5e7c\u5150\u671f\uff08\u7279\u306b3\u6b73\u301c7\u6b73\u9803\uff09\u304b\u3089\u6025\u901f\u306b\u4f53\u91cd\u304c\u5897\u52a0\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u6210\u4eba\u671f\u306b\u306f\u7d0475%\u304c\u904e\u4f53\u91cd\u307e\u305f\u306f\u80a5\u6e80\u306b\u306a\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u982d\u75c7:<\/strong> \u6bd4\u8f03\u7684\u982d\u56f2\u304c\u5927\u304d\u3044\uff08\u5927\u982d\u75c7\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u540c\u9818\u57df\u306e\u91cd\u8907\uff08\u30c7\u30e5\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u75c7\u5019\u7fa4\u304c\u5c0f\u982d\u75c7\u3092\u5448\u3059\u308b\u306e\u3068\u5bfe\u7167\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u690e\u7570\u5e38:<\/strong> \u810a\u67f1\u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff09\u3084\u3001\u810a\u690e\u306e\u5f62\u6210\u7570\u5e38\uff08\u534a\u690e\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u9818\u57df\u5185\u306e<em>TBX6<\/em>\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u304c\u7591\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u5b66\u7684\u5408\u4f75\u75c7\uff08\u3066\u3093\u304b\u3093\u7b49\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c:<\/strong> \u7d0420\u301c25%\u306e\u60a3\u8005\u3055\u3093\u306b\u3001\u751f\u6daf\u306e\u3044\u305a\u308c\u304b\u306e\u6642\u70b9\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u767a\u4f5c\u6027\u904b\u52d5\u8a98\u767a\u6027\u821e\u8e0f\u30a2\u30c6\u30c8\u30fc\u30bc\uff08PKD\uff09:<\/strong> \u6025\u306b\u52d5\u3044\u305f\u3068\u304d\u306b\u624b\u8db3\u304c\u52dd\u624b\u306b\u52d5\u3044\u3066\u3057\u307e\u3046\u904b\u52d5\u969c\u5bb3\u3067\u3001\u9818\u57df\u5185\u306e<em>PRRT2<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u3057\u3066\u8d77\u3053\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\uff09\u306b\u304a\u3051\u308b\u3001\u7d04600kb\u306e\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b\uff1f<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305fDNA\u914d\u5217\u306e\u7e70\u308a\u8fd4\u3057\uff08\u5206\u7bc0\u91cd\u8907\uff1aSegmental Duplications\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u751f\u6b96\u7d30\u80de\uff08\u7cbe\u5b50\u3084\u5375\u5b50\uff09\u304c\u4f5c\u3089\u308c\u308b\u969b\u306e\u6e1b\u6570\u5206\u88c2\u3067\u306f\u3001\u67d3\u8272\u4f53\u540c\u58eb\u304c\u30da\u30a2\u306b\u306a\u3063\u3066\u60c5\u5831\u3092\u4ea4\u63db\uff08\u7d44\u63db\u3048\uff09\u3057\u307e\u3059\u304c\u3001\u3053\u306e\u9818\u57df\u306f\u4f3c\u305f\u914d\u5217\u304c\u591a\u3044\u305f\u3081\u3001\u30da\u30a2\u3092\u7d44\u3080\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u300c\u305a\u308c\u300d\u306b\u3088\u3063\u3066\u3001\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09\u3068\u3044\u3046\u73fe\u8c61\u304c\u8d77\u304d\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u91cd\u8907\u3057\u3001\u3082\u3046\u7247\u65b9\u3067\u306f\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u9818\u57df\u306b\u306f\u7d0425\u301c29\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u901a\u5e38\u3001\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\u6b20\u5931\u306b\u3088\u308a1\u3064\uff08\u30cf\u30d7\u30ed\uff09\u3057\u304b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3092<strong>\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>KCTD13:<\/strong> \u982d\u306e\u5927\u304d\u3055\u3084\u98df\u6b32\u5236\u5fa1\uff08\u80a5\u6e80\uff09\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MAPK3:<\/strong> \u7d30\u80de\u306e\u5897\u6b96\u3084\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u4e0e\u3057\u3001\u6210\u9577\u3084\u767a\u9054\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>PRRT2:<\/strong> \u30b7\u30ca\u30d7\u30b9\u306e\u6a5f\u80fd\u306b\u95a2\u308f\u308a\u3001\u3066\u3093\u304b\u3093\u3084\u904b\u52d5\u969c\u5bb3\uff08PKD\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>TBX6:<\/strong> \u9aa8\u683c\uff08\u810a\u690e\uff09\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\uff09\u5909\u7570:<\/strong> \u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong> \u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u91cd\u8981\u306a\u306e\u306f\u3001\u300c\u89aa\u306f\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u8efd\u3044\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u6c17\u3065\u3044\u3066\u3044\u306a\u3044\u300d<strong>\u5834\u5408\u304c\u3042\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u308c\u306f<\/strong>\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u3068\u547c\u3070\u308c\u3001\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5fc5\u305a\u3057\u3082\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\uff08\u4fdd\u56e0\u8005\u8a3a\u65ad\uff09\u3082\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\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\u5728\u3001\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u9818\u57df\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u5c06\u6765\u7684\u306a\u30ea\u30b9\u30af\u3092\u7ba1\u7406\u3059\u308b\u4e88\u9632\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u65e9\u671f\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u5f8c\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u304b\u3089\u306e\u4ecb\u5165\u304c\u4e88\u5f8c\u3092\u6539\u5584\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\u8a9e\u9045\u6ede\u3084\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u8a9e\u5931\u884c\uff09\u306b\u5bfe\u3057\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3082\u4f75\u7528\u3057\u306a\u304c\u3089\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u80b2\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\/ \u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u5fae\u7d30\u904b\u52d5\uff08\u624b\u5148\u306e\u52d5\u304d\uff09\u3001\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u6821\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084\u884c\u52d5\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u9069\u5207\u306a\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u4f53\u91cd\u30fb\u6804\u990a\u7ba1\u7406\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<p>\u80a5\u6e80\u306f\u5065\u5eb7\u30ea\u30b9\u30af\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u5e7c\u5c11\u671f\u304b\u3089\u306e\u7ba1\u7406\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u4e8b\u7642\u6cd5:<\/strong> \u6804\u990a\u58eb\u306b\u3088\u308b\u6307\u5c0e\u306e\u3082\u3068\u3001\u30ab\u30ed\u30ea\u30fc\u6442\u53d6\u91cf\u3092\u7ba1\u7406\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u7fd2\u6163:<\/strong> \u904b\u52d5\u3078\u306e\u82e6\u624b\u610f\u8b58\u3092\u6301\u305f\u305b\u306a\u3044\u3088\u3046\u3001\u697d\u3057\u307f\u306a\u304c\u3089\u4f53\u3092\u52d5\u304b\u3059\u7fd2\u6163\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong> \u5b9a\u671f\u7684\u306bBMI\uff08\u4f53\u683c\u6307\u6570\uff09\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u6025\u6fc0\u306a\u4f53\u91cd\u5897\u52a0\u304c\u306a\u3044\u304b\u76e3\u8996\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \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\u85ac\u7269\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u969c\u5bb3:<\/strong> <em>PRRT2<\/em>\u95a2\u9023\u306e\u904b\u52d5\u969c\u5bb3\uff08PKD\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u306a\u3069\u306e\u85ac\u5264\u304c\u8457\u52b9\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5b9a\u671f\u7684\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u691c\u67fb\uff09<\/strong><\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u898b\u3089\u308c\u306a\u304f\u3066\u3082\u3001\u4ee5\u4e0b\u306e\u9805\u76ee\u306b\u3064\u3044\u3066\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u810a\u67f1\u691c\u67fb:<\/strong> \u5074\u5f2f\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u8074\u529b\u691c\u67fb:<\/strong> \u8996\u529b\u3084\u8074\u529b\u306e\u554f\u984c\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u8a55\u4fa1:<\/strong> \u5e74\u9f62\u306b\u5fdc\u3058\u305f\u767a\u9054\u691c\u67fb\u3084\u5fc3\u7406\u691c\u67fb\u3092\u884c\u3044\u3001\u652f\u63f4\u8a08\u753b\u3092\u898b\u76f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \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>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0:<\/strong> \u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5bb6\u65cf\u5185\u3067\u306e\u907a\u4f1d\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u5c02\u9580\u5bb6\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u89aa\u306e\u4f1a\u30fb\u60a3\u8005\u4f1a:<\/strong> \u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u3068\u306e\u60c5\u5831\u4ea4\u63db\u306f\u3001\u5fc3\u7406\u7684\u306a\u652f\u3048\u3068\u306a\u308a\u307e\u3059\uff08\u4f8b\uff1aSimons Searchlight \u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u306a\u3069\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c\u3068\u751f\u6d3b<\/strong><\/h2>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u5065\u5eb7\u306b\u6210\u4eba\u671f\u3092\u8fce\u3048\u307e\u3059\u3002\u5e73\u5747\u5bff\u547d\u306b\u5927\u304d\u306a\u5f71\u97ff\u306f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u969c\u5bb3\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u8efd\u5ea6\u306e\u5834\u5408\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u5c31\u52b4\u3084\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u304c\u53ef\u80fd\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3084\u3001\u80a5\u6e80\u306b\u4f34\u3046\u5065\u5eb7\u554f\u984c\uff08\u7cd6\u5c3f\u75c5\u3084\u5fc3\u8840\u7ba1\u75be\u60a3\u306a\u3069\uff09\u306b\u306f\u7d99\u7d9a\u7684\u306a\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u300c\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u9023\u7d9a\u4f53\uff09\u300d\u3068\u3057\u3066\u306e\u6027\u8cea\u304c\u5f37\u3044\u305f\u3081\u3001\u300c16p11.2\u6b20\u5931\u3060\u304b\u3089\u3053\u3046\u306a\u308b\u300d\u3068\u4e00\u6982\u306b\u6c7a\u3081\u3064\u3051\u305a\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u500b\u6027\u3068\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u304d\u3081\u7d30\u3084\u304b\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u7d99\u7d9a\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GeneReviews\u00ae [Internet]: 16p11.2 Recurrent Deletion. Initial Posting: February 21, 2008; Last Update: December 10, 2020.<br>Author: Rainey L, Shinawi M, Grimbert P, et al.<\/li>\n\n\n\n<li><strong>Simons Searchlight<\/strong>: 16p11.2 deletion syndrome Information Guide.<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: 16p11.2 Microdeletions (BP4-BP5).<\/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>Maillard AM, et al.<\/strong> (2015). The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. <em>Molecular Psychiatry<\/em>.<\/li>\n\n\n\n<li><strong>Zufferey F, et al.<\/strong> (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. <em>Journal of Medical Genetics<\/em>.<\/li>\n\n\n\n<li><strong>Shinawi M, et al.<\/strong> (2010). Recurrent reciprocal 16p11.2 rearrangements associated with variable clinical features of mental retardation, autism, dysmorphism, epilepsy, and thoracic aortic aneurysms. <em>Journal of Medical 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-16671","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\/16671","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\/16671\/revisions"}],"predecessor-version":[{"id":16844,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16671\/revisions\/16844"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16671"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}