{"id":16694,"date":"2026-01-19T08:48:49","date_gmt":"2026-01-19T08:48:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16694"},"modified":"2026-01-22T09:00:21","modified_gmt":"2026-01-22T09:00:21","slug":"16p13-11-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p13-11-deletion-syndrome\/","title":{"rendered":"16p13.11 deletion 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\u6b20\u5931\u75c7\u5019\u7fa4\uff0816p13.11 deletion syndrome\uff09<\/li>\n\n\n\n<li>16p13.11\u5fae\u7d30\u6b20\u5931\uff0816p13.11 microdeletion\uff09<\/li>\n\n\n\n<li>16p13.11\u518d\u767a\u6027\u6b20\u5931\uff0816p13.11 recurrent deletion\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<\/li>\n\n\n\n<li>NDE1\u95a2\u9023\u6b20\u5931\u75c7\u5019\u7fa4\uff08NDE1-related deletion syndrome\uff09\u203b\u4e3b\u8981\u907a\u4f1d\u5b50\u540d\u306b\u57fa\u3065\u304f\u547c\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\uff0913.11\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c13.11\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\u3053\u3068\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306e\u7279\u5b9a\u306e\u53cd\u5fa9\u914d\u5217\uff08LCR: Low Copy Repeats\uff09\u306b\u631f\u307e\u308c\u305f\u9818\u57df\u3067\u767a\u751f\u3057\u3084\u3059\u304f\u3001\u5178\u578b\u7684\u306a\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u7d040.8\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u301c1.65Mb\u7a0b\u5ea6\u3001\u3042\u308b\u3044\u306f\u7d043Mb\u4ee5\u4e0a\u306b\u53ca\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u306b\u306f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u75be\u60a3\u306e\u75c7\u72b6\uff08\u8868\u73fe\u578b\uff09\u306b\u95a2\u9023\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u306e\u306f\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NDE1 (Nuclear Distribution Protein nudE homolog 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u5927\u8133\u76ae\u8cea\u304c\u5f62\u6210\u3055\u308c\u308b\u969b\u306e\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u3084\u5206\u88c2\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306f\u3001\u8133\u306e\u30b5\u30a4\u30ba\uff08\u5c0f\u982d\u75c7\uff09\u3084\u77e5\u80fd\u767a\u9054\u3001\u3066\u3093\u304b\u3093\u767a\u75c7\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MYH11 (Myosin Heavy Chain 11):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e73\u6ed1\u7b4b\uff08\u5185\u81d3\u3084\u8840\u7ba1\u306e\u58c1\u3092\u69cb\u6210\u3059\u308b\u7b4b\u8089\uff09\u306e\u53ce\u7e2e\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u80f8\u90e8\u5927\u52d5\u8108\u7624\uff08\u8840\u7ba1\u306e\u30b3\u30d6\uff09\u3084\u5927\u52d5\u8108\u89e3\u96e2\u306e\u30ea\u30b9\u30af\u4e0a\u6607\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u9577\u671f\u7684\u306a\u5065\u5eb7\u7ba1\u7406\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ABCC1 \/ ABCC6:<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u7d30\u80de\u5185\u306e\u7269\u8cea\u8f38\u9001\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<em>ABCC6<\/em>\u306e\u5909\u7570\u306f\u5f3e\u6027\u7dda\u7dad\u6027\u4eee\u6027\u9ec4\u8272\u816b\uff08PXE\uff09\u306e\u539f\u56e0\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306b1\u3064\u306e\u30b3\u30d4\u30fc\u304c\u6b20\u5931\u3057\u305f\u3060\u3051\uff08\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\uff09\u3067\u306f\u3001\u901a\u5e38PXE\u306e\u5178\u578b\u7684\u306a\u75c7\u72b6\u306f\u51fa\u306b\u304f\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4fdd\u56e0\u8005\u3068\u3057\u3066\u306e\u8003\u616e\u304c\u5fc5\u8981\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>\u4e00\u822c\u96c6\u56e3\u3067\u306f\u7a00\u3060\u304c\u3001\u81e8\u5e8a\u96c6\u56e3\uff08\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u9045\u6ede\uff09\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<p>16p13.11\u6b20\u5931\u306f\u3001\u3044\u308f\u3086\u308b\u300c\u611f\u53d7\u6027\u56e0\u5b50\uff08\u30ea\u30b9\u30af\u30d5\u30a1\u30af\u30bf\u30fc\uff09\u300d\u3068\u3057\u3066\u306e\u6027\u8cea\u304c\u5f37\u3044\u305f\u3081\u3001\u4e00\u822c\u96c6\u56e3\u306e\u4e2d\u306b\u3082\u7121\u75c7\u72b6\u307e\u305f\u306f\u8efd\u5fae\u306a\u75c7\u72b6\u3067\u751f\u6d3b\u3057\u3066\u3044\u308b\u4fdd\u56e0\u8005\u304c\u4e00\u5b9a\u6570\u5b58\u5728\u3057\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> \u63a8\u5b9a\u3067\u7d042,000\u4eba\u301c3,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6b63\u78ba\u306a\u5b9f\u6570\u306f\u4e0d\u660e\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>\u539f\u56e0\u4e0d\u660e\u306e<strong>\u5168\u822c\u3066\u3093\u304b\u3093<\/strong>\u3092\u6301\u3064\u60a3\u8005\u7fa4\u306b\u304a\u3044\u3066\u306f\u3001\u4e00\u822c\u96c6\u56e3\u306b\u6bd4\u3079\u3066\u6709\u610f\u306b\u9ad8\u3044\u983b\u5ea6\uff08\u7d0410\u500d\u4ee5\u4e0a\u306e\u30aa\u30c3\u30ba\u6bd4\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\uff09\u3067\u691c\u51fa\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7d71\u5408\u5931\u8abf\u75c7\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3001\u77e5\u7684\u969c\u5bb3\u3092\u6301\u3064\u60a3\u8005\u7fa4\u3067\u3082\u3001\u4e00\u822c\u96c6\u56e3\u3088\u308a\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u3053\u306e\u6b20\u5931\u304c\u300c\u8133\u6a5f\u80fd\u306e\u8106\u5f31\u6027\uff08\u5f31\u3055\uff09\u300d\u3092\u751f\u307f\u51fa\u3059\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\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>16p13.11 deletion syndrome\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\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3059\u306a\u308f\u3061\u3001\u300c\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u51fa\u306a\u3044\u4eba\u304c\u3044\u308b\u300d\u3001\u305d\u3057\u3066\u300c\u75c7\u72b6\u304c\u51fa\u308b\u5834\u5408\u3067\u3082\u3001\u305d\u306e\u91cd\u3055\u3084\u7a2e\u985e\u306f\u4eba\u306b\u3088\u3063\u3066\u5168\u304f\u7570\u306a\u308b\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u81e8\u5e8a\u50cf\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u7279\u5fb4\uff1a\u3066\u3093\u304b\u3093\uff08Epilepsy\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306b\u304a\u3044\u3066<strong>\u6700\u3082\u7279\u5fb4\u7684\u304b\u3064\u533b\u5b66\u7684\u306b\u91cd\u8981\u306a\u75c7\u72b6<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u7387:<\/strong> \u75c7\u72b6\u306e\u3042\u308b\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u3067\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30bf\u30a4\u30d7:<\/strong> \u69d8\u3005\u306a\u767a\u4f5c\u578b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u300c\u5168\u822c\u3066\u3093\u304b\u3093\u300d\uff08\u6b20\u795e\u767a\u4f5c\u3001\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c\u3001\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u306a\u3069\uff09\u3084\u3001\u90e8\u5206\u767a\u4f5c\uff08\u7126\u70b9\u767a\u4f5c\uff09\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002\u4e73\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u300c\u70b9\u982d\u3066\u3093\u304b\u3093\uff08\u30a6\u30a7\u30b9\u30c8\u75c7\u5019\u7fa4\uff09\u300d\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u904e:<\/strong> \u85ac\u7269\u7642\u6cd5\u3067\u826f\u597d\u306b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u96e3\u6cbb\u6027\u306e\u7d4c\u904e\u3092\u305f\u3069\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u4e0d\u660e\u306e\u3066\u3093\u304b\u3093\u3068\u3057\u3066\u6cbb\u7642\u3092\u53d7\u3051\u3066\u3044\u305f\u6210\u4eba\u60a3\u8005\u3055\u3093\u304c\u3001\u5f8c\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u3053\u306e\u6b20\u5931\u304c\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\u3067\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u3084\u5b66\u7fd2\u306e\u56f0\u96e3\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u304c\u3001\u77e5\u7684\u80fd\u529b\u304c\u6b63\u5e38\u7bc4\u56f2\uff08Normal IQ\uff09\u306e\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\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\u3084\u3053\u3060\u308f\u308a\u306a\u3069\u3001ASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u50be\u5411\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> \u4e0d\u6ce8\u610f\u3001\u591a\u52d5\u6027\u3001\u885d\u52d5\u6027\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> \u6210\u4eba\u671f\u4ee5\u964d\u3001\u7d71\u5408\u5931\u8abf\u75c7\u3084\u6c17\u5206\u969c\u5bb3\u3001\u653b\u6483\u7684\u884c\u52d5\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u4e00\u822c\u3088\u308a\u3082\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\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>\u300c\u3053\u306e\u75c5\u6c17\u7279\u6709\u300d\u3068\u3044\u3046\u307b\u3069\u6c7a\u5b9a\u7684\u306a\u9854\u3064\u304d\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5fae\u7d30\u306a\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong> \u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u3082\u5c0f\u3055\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u9818\u57df\u5185\u306e<em>NDE1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong> \u77ed\u3044\u9f3b\u3001\u8033\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u89aa\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u30fb\u56db\u80a2:<\/strong> \u624b\u6307\u306e\u7570\u5e38\uff08\u77ed\u6307\u75c7\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\uff09\u3001\u591a\u6307\u75c7\u3001\u5408\u6307\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u7570\u5e38\u306b\u67d4\u3089\u304b\u3044\uff09\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u306a\u3069\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5faa\u74b0\u5668\u7cfb\u306e\u30ea\u30b9\u30af\uff08\u91cd\u8981\uff1a\u5927\u52d5\u8108\u7624\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306b<strong>MYH11\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u7279\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u306e\u304c\u8840\u7ba1\u7cfb\u306e\u5408\u4f75\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80f8\u90e8\u5927\u52d5\u8108\u7624\u30fb\u89e3\u96e2\uff08TAAD\uff09:<\/strong> \u5927\u52d5\u8108\uff08\u5fc3\u81d3\u304b\u3089\u51fa\u308b\u4e00\u756a\u592a\u3044\u8840\u7ba1\uff09\u306e\u58c1\u304c\u5f31\u304f\u306a\u308a\u3001\u30b3\u30d6\u304c\u3067\u304d\u305f\u308a\uff08\u52d5\u8108\u7624\uff09\u3001\u88c2\u3051\u305f\u308a\uff08\u89e3\u96e2\uff09\u3059\u308b\u30ea\u30b9\u30af\u304c\u4e0a\u6607\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u306f\u5c0f\u5150\u671f\u306b\u3059\u3050\u306b\u767a\u75c7\u3059\u308b\u3068\u3044\u3046\u3088\u308a\u306f\u3001<strong>\u6210\u4eba\u671f\u4ee5\u964d\u306e\u9577\u671f\u7684\u306a\u30ea\u30b9\u30af<\/strong>\u3068\u3057\u3066\u8003\u616e\u3059\u3079\u304d\u70b9\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u65e9\u671f\u767a\u898b\u3067\u304d\u308c\u3070\u8840\u5727\u7ba1\u7406\u3084\u624b\u8853\u3067\u547d\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u305f\u3081\u3001\u6975\u3081\u3066\u91cd\u8981\u306a\u60c5\u5831\u3067\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\uff0816p13.11\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u306a\u305c\u767a\u75c7\u3059\u308b\u306e\u304b\u306b\u3064\u3044\u3066\u306f\u300c\u591a\u56e0\u5b50\u7684\u306a\u8981\u56e0\u300d\u304c\u7d61\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0\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\u77ed\u8155\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300cLCR\uff08\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff09\u300d\u304c\u591a\u6570\u5b58\u5728\u3057\u307e\u3059\u3002\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u7d50\u3073\u3064\u304d\u3001\u305d\u306e\u9593\u306e\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3046\u30a8\u30e9\u30fc\uff08NAHR\uff09\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u69cb\u9020\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u4ed6\u306e16p\u95a2\u9023\u75c7\u5019\u7fa4\uff0816p11.2\u6b20\u5931\u306a\u3069\uff09\u3068\u540c\u69d8\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u300c\u795e\u7d4c\u611f\u53d7\u6027\u56e0\u5b50\uff08Susceptibility Factor\uff09\u300d\u3068\u3057\u3066\u306e\u6027\u8cea<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u306f\u3001\u5358\u72ec\u3067\u5fc5\u305a\u3057\u3082\u91cd\u7be4\u306a\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b66\u3067\u306f\u3001\u3053\u308c\u3092\u300c\u30ea\u30b9\u30af\u56e0\u5b50\u300d\u3084\u300c\u611f\u53d7\u6027\u30ed\u30fc\u30ab\u30b9\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u3001\u300c\u4e88\u5099\u80fd\u529b\u300d\u3084\u300c\u56de\u5fa9\u529b\u300d\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u3053\u306b\u3001\u5225\u306e\u907a\u4f1d\u7684\u8981\u56e0\uff08<strong>\u30bb\u30ab\u30f3\u30c9\u30fb\u30d2\u30c3\u30c8<\/strong>\uff1a\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u5909\u7570\u306a\u3069\uff09\u3084\u3001\u74b0\u5883\u8981\u56e0\uff08\u598a\u5a20\u4e2d\u306e\u6bcd\u4f53\u306e\u72b6\u614b\u3084\u51fa\u7523\u6642\u306e\u30c8\u30e9\u30d6\u30eb\u306a\u3069\uff09\u304c\u52a0\u308f\u308b\u3053\u3068\u3067\u3001\u95be\u5024\uff08\u3044\u304d\u3061\uff09\u3092\u8d85\u3048\u3001\u3066\u3093\u304b\u3093\u3084\u77e5\u7684\u969c\u5bb3\u3068\u3057\u3066\u767a\u75c7\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08<strong>\u591a\u56e0\u5b50\u907a\u4f1d\u30fb2\u30d2\u30c3\u30c8\u4eee\u8aac<\/strong>\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u5f62\u5f0f<\/strong>\u3092\u3068\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong> \u4e21\u89aa\u306f\u6301\u3063\u3066\u304a\u3089\u305a\u3001\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3059\u308b\u30b1\u30fc\u30b9\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong> \u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3002\u672c\u75be\u60a3\u3067\u306f\u3001<strong>\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u300c\u7121\u75c7\u72b6\u300d\u3042\u308b\u3044\u306f\u300c\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\u300d\u3067\u3042\u308b\u5834\u5408\u304c\u975e\u5e38\u306b\u591a\u3044<\/strong>\u306e\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\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u3078\u306e\u5bfe\u5fdc\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u3001\u5408\u4f75\u75c7\u306e\u4e88\u9632\u30fb\u65e9\u671f\u767a\u898b\u3001\u305d\u3057\u3066\u767a\u9054\u652f\u63f4\u306b\u3088\u308bQOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u306e\u5411\u4e0a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\uff08\u6700\u512a\u5148\u4e8b\u9805\u306e\u4e00\u3064\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u767a\u898b\u30fb\u6cbb\u7642:<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u3084\u3001\u30dc\u30fc\u30c3\u3068\u3059\u308b\u3088\u3046\u306a\u767a\u4f5c\uff08\u6b20\u795e\u767a\u4f5c\uff09\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u3001\u901f\u3084\u304b\u306b\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong> \u767a\u4f5c\u578b\u306b\u5408\u308f\u305b\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\uff08AEDs\uff09\u306b\u3088\u308b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002\u96e3\u6cbb\u6027\u306e\u5834\u5408\u3067\u3082\u3001\u8907\u6570\u306e\u85ac\u5264\u306e\u8abf\u6574\u3084\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u306a\u3069\u306e\u5c02\u9580\u7684\u306a\u6cbb\u7642\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u3092\u9069\u5207\u306b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u3053\u3068\u306f\u3001\u8133\u306e\u767a\u9054\u3092\u5b88\u308b\u4e0a\u3067\u3082\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u8a55\u4fa1:<\/strong> \u5b9a\u671f\u7684\u306b\u767a\u9054\u691c\u67fb\u3092\u884c\u3044\u3001\u5f97\u610f\u30fb\u4e0d\u5f97\u610f\u3092\u628a\u63e1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7642\u80b2:<\/strong> \u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3001\u904b\u52d5\u80fd\u529b\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u7372\u5f97\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u74b0\u5883:<\/strong> \u77e5\u7684\u969c\u5bb3\u3084ADHD\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306a\u3069\u3001\u500b\u3005\u306e\u7279\u6027\u306b\u5fdc\u3058\u305f\u6559\u80b2\u7684\u914d\u616e\u3092\u53d7\u3051\u3089\u308c\u308b\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5faa\u74b0\u5668\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08MYH11\u907a\u4f1d\u5b50\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306b<em>MYH11<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u753b\u50cf\u691c\u67fb:<\/strong> \u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066CT\/MRI\u691c\u67fb\u3092\u884c\u3044\u3001\u5927\u52d5\u8108\u57fa\u90e8\u3084\u4e0a\u884c\u5927\u52d5\u8108\u306e\u592a\u3055\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8840\u5727\u7ba1\u7406:<\/strong> \u9ad8\u8840\u5727\u306f\u5927\u52d5\u8108\u3078\u306e\u8ca0\u62c5\u3068\u306a\u308b\u305f\u3081\u3001\u9069\u5207\u306a\u8840\u5727\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong> \u5074\u5f2f\u75c7\u306a\u3069\u306e\u9aa8\u683c\u7570\u5e38\u304c\u3042\u308c\u3070\u7d4c\u904e\u89b3\u5bdf\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u7cbe\u795e\u79d1\u7684\u30b1\u30a2:<\/strong> \u601d\u6625\u671f\u4ee5\u964d\u3001\u884c\u52d5\u9762\u3084\u7cbe\u795e\u9762\u306e\u4e0d\u5b89\u5b9a\u3055\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u7cbe\u795e\u79d1\u533b\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u4e00\u822c\u7684\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3088\u308a\u3082\u8907\u96d1\u306a\u8aac\u660e\u3092\u8981\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u89aa\u3082\u6301\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u300d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b50\u4f9b\u304c\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u3084FISH\u6cd5\uff09\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3082\u3057\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u305f\u3068\u3057\u3066\u3082\u3001\u305d\u308c\u306f\u300c\u89aa\u306e\u305b\u3044\u3067\u75c5\u6c17\u306b\u306a\u3063\u305f\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002 \u89aa\u81ea\u8eab\u306e\u4f53\u8cea\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u305f\u307e\u305f\u307e\u5b50\u4f9b\u306b\u53d7\u3051\u7d99\u304c\u308c\u3001\u4ed6\u306e\u8981\u56e0\u3068\u91cd\u306a\u3063\u3066\u75c7\u72b6\u304c\u51fa\u305f\u3068\u3044\u3046\u81ea\u7136\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u89aa\u81ea\u8eab\u306b\u3082\u300c\u96a0\u308c\u305f\u3066\u3093\u304b\u3093\u7d20\u56e0\u300d\u3084\u300c\u5927\u52d5\u8108\u7624\u30ea\u30b9\u30af\u300d\u304c\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u89aa\u81ea\u8eab\u306e\u5065\u5eb7\u7ba1\u7406\uff08\u8133\u6ce2\u691c\u67fb\u3084\u5fc3\u30a8\u30b3\u30fc\uff09\u306b\u3082\u7e4b\u304c\u308b\u91cd\u8981\u306a\u60c5\u5831\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\uff1a\u6b21\u5b50\u3078\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u907a\u4f1d\u3057\u3066\u3082\u540c\u3058\u3088\u3046\u306a\u75c7\u72b6\u304c\u51fa\u308b\u3068\u306f\u9650\u3089\u305a\u3001\u8efd\u75c7\u3084\u7121\u75c7\u72b6\u306e\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\uff08\u4e88\u6e2c\u56f0\u96e3\uff09\u3002<\/li>\n\n\n\n<li>De novo\u306e\u5834\u5408\uff1a\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff08\u975e\u5e38\u306b\u4f4e\u3044\uff09\u3067\u3059\u304c\u3001\u7a00\u306b\u89aa\u306e\u751f\u6b96\u7d30\u80de\u30e2\u30b6\u30a4\u30af\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u4e00\u90e8\u3060\u3051\u5909\u7570\u3092\u6301\u3064\u72b6\u614b\uff09\u306e\u53ef\u80fd\u6027\u3082\u8003\u616e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u524d\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u3067\u80ce\u5150\u306e\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u3053\u3068\u306f\u6280\u8853\u7684\u306b\u53ef\u80fd\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u300c\u6b20\u5931\u304c\u898b\u3064\u304b\u3063\u3066\u3082\u3001\u3069\u306e\u7a0b\u5ea6\u306e\u969c\u5bb3\u304c\u51fa\u308b\u304b\uff08\u3042\u308b\u3044\u306f\u51fa\u306a\u3044\u304b\uff09\u300d\u3092\u6b63\u78ba\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u3082\u4e0d\u53ef\u80fd\u3067\u3059\u3002\u3053\u306e\u4e0d\u78ba\u5b9f\u6027\u306b\u3064\u3044\u3066\u3001\u5341\u5206\u306a\u8a71\u3057\u5408\u3044\u3068\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>16p13.11 deletion syndrome\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u767a\u9054\u3084\u8840\u7ba1\u306e\u5f62\u6210\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u300c\u3066\u3093\u304b\u3093\u300d\u3068\u306e\u95a2\u9023\u304c\u6df1\u304f\u3001\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u5c06\u6765\u7684\u306a\u8840\u7ba1\u306e\u75c5\u6c17\uff08\u5927\u52d5\u8108\u7624\uff09\u306e\u30ea\u30b9\u30af\u3082\u8003\u616e\u3057\u3001\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u5065\u5eb7\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u4eba\u305d\u308c\u305e\u308c\u3067\u3001\u793e\u4f1a\u3067\u81ea\u7acb\u3057\u3066\u751f\u6d3b\u3057\u3066\u3044\u308b\u4eba\u3082\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u75c5\u6c17\u300d\u3068\u3044\u3046\u5074\u9762\u3060\u3051\u3067\u306a\u304f\u3001\u300c\u305d\u306e\u4eba\u306e\u500b\u6027\u30fb\u4f53\u8cea\u306e\u4e00\u3064\u300d\u3068\u3057\u3066\u6349\u3048\u3001\u3066\u3093\u304b\u3093\u7ba1\u7406\u3084\u7642\u80b2\u3001\u5b9a\u671f\u691c\u8a3a\u3068\u3044\u3063\u305f\u5177\u4f53\u7684\u306a\u30a2\u30af\u30b7\u30e7\u30f3\u3092\u901a\u3058\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u30b5\u30dd\u30fc\u30c8\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<ol class=\"wp-block-list\">\n<li><strong>Ullmann R, et al.<\/strong> (2007). Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and\/or mental retardation. <em>Human Mutation<\/em>, 28(7), 674-682.\n<ul class=\"wp-block-list\">\n<li>(\u203b16p13.11\u9818\u57df\u306eCNV\u304c\u81ea\u9589\u75c7\u3084\u77e5\u7684\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Heinzen EL, et al.<\/strong> (2010). Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. <em>American Journal of Human Genetics<\/em>, 86(5), 707-718.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u3053\u306e\u6b20\u5931\u304c\u69d8\u3005\u306a\u30bf\u30a4\u30d7\u306e\u3066\u3093\u304b\u3093\uff08\u7279\u306b\u5168\u822c\u3066\u3093\u304b\u3093\uff09\u306e\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u5927\u898f\u6a21\u7814\u7a76\u3067\u8a3c\u660e\u3057\u305f\u8ad6\u6587)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hannes FD, et al.<\/strong> (2009). 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<\/em>.<\/li>\n\n\n\n<li><strong>Kuwano A, et al.<\/strong> (2016). <em>MYH11<\/em> mutation in a patient with 16p13.11 microdeletion syndrome.\n<ul class=\"wp-block-list\">\n<li>(\u203bMYH11\u907a\u4f1d\u5b50\u3068\u5927\u52d5\u8108\u75c5\u5909\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u306e\u5831\u544a\u4f8b)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: 16p13 deletions (2023).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u751f\u6d3b\u9762\u3067\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3084\u591a\u69d8\u306a\u75c7\u72b6\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u8a18\u8f09\u3042\u308a)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: 16p13.11 region (haploinsufficiency score for <em>NDE1<\/em>, <em>MYH11<\/em>).\n<ul class=\"wp-block-list\">\n<li>(\u5404\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u5f71\u97ff\u5ea6\u3092\u8a55\u4fa1\u3057\u305f\u5c02\u9580\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tropeano M, et al.<\/strong> (2013). Male-biased autosomal effect of 16p13.11 deletion in a family with intellectual disability.\n<ul class=\"wp-block-list\">\n<li>(\u6027\u5dee\u3084\u5bb6\u65cf\u5185\u96c6\u7a4d\u306b\u3064\u3044\u3066\u306e\u7814\u7a76)<\/li>\n<\/ul>\n<\/li>\n<\/ol>\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-16694","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\/16694","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\/16694\/revisions"}],"predecessor-version":[{"id":17614,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16694\/revisions\/17614"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16694"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}