{"id":17180,"date":"2026-01-21T08:00:25","date_gmt":"2026-01-21T08:00:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17180"},"modified":"2026-01-21T08:01:09","modified_gmt":"2026-01-21T08:01:09","slug":"8q12-microduplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/8q12-microduplication-syndrome\/","title":{"rendered":"8q12 microduplication syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>8q12\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>8q12\u91cd\u8907\u75c7\u5019\u7fa4\uff088q12 duplication syndrome\uff09<\/li>\n\n\n\n<li>8q12\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 8q12\uff09<\/li>\n\n\n\n<li>CHD7\u91cd\u8907\u75c7\u5019\u7fa4\uff08CHD7 duplication syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u7279\u306b\u795e\u7d4c\u767a\u9054\u9762\uff09\u306b\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>CHD7<\/em>\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u5834\u5408\u306b\u4f7f\u308f\u308c\u308b\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u90e8\u5206\u76848q\u30c8\u30ea\u30bd\u30df\u30fc\uff08Partial trisomy 8q\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\uff08CHARGE syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b<em>CHD7<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\uff08\u5909\u7570\u3084\u6b20\u5931\uff09\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u3068\u306f\u907a\u4f1d\u5b66\u7684\u306b\u5bfe\uff08\u3064\u3044\uff09\u306b\u306a\u308b\u95a2\u4fc2\u3067\u3059\u304c\u3001\u81e8\u5e8a\u50cf\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>8\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0912\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e8\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c12\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff088q12.1\u301c8q12.3\uff09\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>8q12\u9818\u57df\u306e\u91cd\u8907\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306e\u5c0f\u3055\u306a\u3082\u306e\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u53ca\u3076\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u75c5\u614b\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u6700\u3082\u91cd\u8981\u306a\u306e\u304c\u3001CHD7\u907a\u4f1d\u5b50\u3068PLAG1\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CHD7 (Chromodomain Helicase DNA Binding Protein 7):<\/strong> 8q12.2\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u907a\u4f1d\u5b50\u306e\u300c\u6307\u63ee\u8005\u300d\u3068\u3082\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002DNA\u304c\u5dfb\u304d\u4ed8\u3044\u3066\u3044\u308b\u69cb\u9020\uff08\u30af\u30ed\u30de\u30c1\u30f3\uff09\u3092\u7de9\u3081\u305f\u308a\u7de0\u3081\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u80ce\u5150\u671f\u306e\u69d8\u3005\u306a\u81d3\u5668\u3084\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30f3\u30fb\u30aa\u30d5\u3059\u308b\u300c\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u56e0\u5b50\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u8db3\uff08\u6b20\u5931\u30fb\u5909\u7570\uff09:<\/strong> \u591a\u767a\u5947\u5f62\u3092\u4f34\u3046\u91cd\u7be4\u306a**\u300c\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u300d**\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\uff08\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u3001\u5fc3\u75be\u60a3\u3001\u5f8c\u9f3b\u5b54\u9589\u9396\u3001\u6210\u9577\u969c\u5bb3\u3001\u6027\u5668\u767a\u80b2\u4e0d\u5168\u3001\u8033\u306e\u5947\u5f62\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u904e\u5270\uff08\u91cd\u8907\u30fb\u672c\u75be\u60a3\uff09:<\/strong> \u8133\u306e\u767a\u9054\u30d7\u30ed\u30b0\u30e9\u30e0\u306b\u6df7\u4e71\u304c\u751f\u3058\u3001<strong>\u767a\u9054\u9045\u6ede<\/strong>\u3084<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u91cd\u7be4\u306a\u8eab\u4f53\u5947\u5f62\uff08\u30b3\u30ed\u30dc\u30fc\u30de\u306a\u3069\uff09\u306f\u4f34\u308f\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PLAG1 (Pleomorphic Adenoma Gene 1):<\/strong> 8q12.1\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u80ce\u5150\u671f\u306e\u6210\u9577\u3092\u4fc3\u9032\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u91cd\u8907\u306e\u5834\u5408\u3001<strong>\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u3084\u553e\u6db2\u817a\u816b\u760d<\/strong>\u306e\u30ea\u30b9\u30af\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002Silver-Russell\u75c7\u5019\u7fa4\uff08\u4f4e\u8eab\u9577\uff09\u3068\u9006\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u95a2\u4e0e\u3059\u308b\u3068\u3082\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\uff08\u51fa\u751f8,500\u301c10,000\u4eba\u306b1\u4eba\uff09\u306b\u6bd4\u3079\u308b\u3068\u30018q12\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5831\u544a\u6570\u306f\u5727\u5012\u7684\u306b\u5c11\u306a\u304f\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u75be\u60a3\u304c\u5b58\u5728\u3057\u306a\u3044\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7279\u5fb4\u304c\u975e\u7279\u7570\u7684:<\/strong> \u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u7279\u5fb4\u7684\u306a\u5927\u5947\u5f62\uff08\u30b3\u30ed\u30dc\u30fc\u30de\u3084\u5f8c\u9f3b\u5b54\u9589\u9396\uff09\u304c\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u5358\u306a\u308b\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u91cd\u8907\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u767a\u898b\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>8q12 microduplication syndrome\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u306e\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e3b\u306b**\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d**\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u3068\u5171\u901a\u3059\u308b\u70b9\u3082\u3042\u308c\u3070\u3001\u5168\u304f\u7570\u306a\u308b\u70b9\uff08\u4f8b\u3048\u3070\u8eab\u9577\uff09\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u62bd\u8c61\u7684\u306a\u601d\u8003\u3084\u5b66\u7fd2\u306b\u56f0\u96e3\u3055\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u7372\u5f97\u304c\u9045\u304f\u3001\u8868\u51fa\uff08\u8a71\u3059\u3053\u3068\uff09\u304c\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u767a\u8a9e\u304c\u6570\u8a9e\u306b\u3068\u3069\u307e\u308b\uff08Non-verbal\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3001\u4f53\u5e79\u304c\u5f31\u3044\u305f\u3081\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\uff08ADHD\u69d8\uff09\u3001\u653b\u6483\u6027\u3001\u81ea\u50b7\u884c\u70ba\u3001\u304b\u3093\u3057\u3083\u304f\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\u306a\u3069\u306e\u81ea\u9589\u7684\u7279\u6027\u3092\u4f75\u305b\u6301\u3064\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>CHD7<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7570\u5e38\u306f\u3001\u91cf\u304c\u5897\u3048\u3066\u3082\u6e1b\u3063\u3066\u3082\u3001\u8133\u306e\u795e\u7d4c\u56de\u8def\u5f62\u6210\u306b\u5f71\u97ff\u3057\u3001ASD\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u7570\u7684\u9854\u8c8c\u300d\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u307b\u3069\u7279\u5fb4\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u524d\u982d\u90e8\u7a81\u51fa\uff08\u304a\u3067\u3053\u304c\u51fa\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\u3001\u6fc3\u3044\u7709\u6bdb\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\uff08\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u307b\u3069\u9855\u8457\u306a\u5909\u5f62\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u4e38\u3044\u9854\u3001\u77ed\u3044\u9f3b\u3001\u539a\u3044\u5507\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u3053\u304c\u8208\u5473\u6df1\u3044\u70b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u3067\u306f\u300c\u4f4e\u8eab\u9577\u300d\u304c\u7279\u5fb4\u3067\u3059\u304c\u30018q12\u91cd\u8907\uff08\u7279\u306b<em>PLAG1<\/em>\u3092\u542b\u3080\u5834\u5408\uff09\u3067\u306f\u3001\u8eab\u9577\u304c\u5e73\u5747\u4ee5\u4e0a\u306b\u306a\u308b**\u300c\u904e\u6210\u9577\uff08Overgrowth\uff09\u300d**\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u6442\u98df\u969c\u5bb3\u306a\u3069\u306b\u3088\u308a\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u5834\u5408\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u91cd\u7be4\u306a\u591a\u767a\u5947\u5f62\u306f\u7a00\u3067\u3059\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5408\u4f75\u75c7\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f:<\/strong> \u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3067\u3042\u308b\u300c\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u8679\u5f69\u3084\u7db2\u819c\u306e\u6b20\u640d\uff09\u300d\u306f\u30018q12\u91cd\u8907\u3067\u306f<strong>\u901a\u5e38\u898b\u3089\u308c\u307e\u305b\u3093<\/strong>\uff08\u3053\u308c\u304c\u91cd\u8981\u306a\u9451\u5225\u70b9\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8033\u306e\u69cb\u9020\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3084\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u7de9\u3055\u3001\u6307\u306e\u7570\u5e38\uff08\u77ed\u6307\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u5408\u4f75\u3059\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u8133\u6ce2\u691c\u67fb\u3067\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6c34\u814e\u75c7\u3084\u505c\u7559\u7cbe\u5de3\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>8\u756a\u67d3\u8272\u4f53\u9577\u8155\uff088q12\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>8q12\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3042\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u3084\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u5834\u5408\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\u3084\u8efd\u75c7\u4f8b\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08Triplosensitivity\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306f\u300c\u3042\u308c\u3070\u3042\u308b\u307b\u3069\u826f\u3044\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><em>CHD7<\/em>\u306e\u3088\u3046\u306a\u300c\u6307\u63ee\u8005\u300d\u306e\u5f79\u5272\u3092\u3059\u308b\u907a\u4f1d\u5b50\u306f\u3001\u91cf\u304c\u53b3\u5bc6\u306b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e382\u672c\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3067\u3042\u308b\u306f\u305a\u304c\u3001\u91cd\u8907\u3057\u30663\u672c\u5206\uff081.5\u500d\uff09\u306b\u306a\u308b\u3068\u3001\u6307\u63ee\u8005\u304c\u591a\u3059\u304e\u3066\u73fe\u5834\uff08\u7d30\u80de\uff09\u304c\u6df7\u4e71\u3057\u3001\u6b63\u5e38\u306a\u8133\u306e\u767a\u9054\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u5b9f\u884c\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff083\u30b3\u30d4\u30fc\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u304c\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u539f\u56e0\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u3001\u8a73\u7d30\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3063\u3066\u521d\u3081\u3066\u5224\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>8q12\u9818\u57df\u306e\u5fae\u7d30\u306a\u91cd\u8907\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>CHD7<\/em>\u3084<em>PLAG1<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u91cd\u8907\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u5bb6\u65cf\u6027\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u4e21\u89aa\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u7a81\u7136\u5909\u7570\u306a\u306e\u304b\u3001\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u4f53\u8cea\u306a\u306e\u304b\u304c\u5224\u660e\u3057\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ \u30a8\u30b3\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u9045\u6ede\u306e\u7cbe\u67fb\u306e\u305f\u3081\u306e\u982d\u90e8MRI\u3001\u5fc3\u75be\u60a3\u30c1\u30a7\u30c3\u30af\u306e\u305f\u3081\u306e\u5fc3\u30a8\u30b3\u30fc\u306a\u3069\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u6700\u5927\u9650\u306b\u4fc3\u3059**\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u53ef\u80fd\u306a\u9650\u308a\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u904b\u52d5\u767a\u9054\uff08\u304a\u5ea7\u308a\u3084\u6b69\u884c\uff09\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u884c\u52d5\u7279\u6027\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853\u30fb\u6295\u85ac\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a\u30fb\u8996\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3092\u884c\u3044\u3001\u96e3\u8074\u3084\u5c48\u6298\u7570\u5e38\u304c\u3042\u308c\u3070\u3001\u88dc\u8074\u5668\u3084\u773c\u93e1\u3067\u88dc\u6b63\u3057\u3001\u5b66\u7fd2\u3084\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u3092\u6700\u5c0f\u9650\u306b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u306a\u3069\u304c\u3042\u308b\u5834\u5408\u3001\u88c5\u5177\u7642\u6cd5\u3084\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300cCHD7\u306e\u7570\u5e38\u300d\u3068\u691c\u7d22\u3059\u308b\u3068\u3001\u91cd\u7be4\u306a\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u60c5\u5831\u304c\u51fa\u3066\u304d\u3066\u4e0d\u5b89\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u91cd\u8907\u300d\u3068\u300c\u6b20\u5931\uff08\u30c1\u30e3\u30fc\u30b8\uff09\u300d\u306f\u5225\u306e\u75c5\u614b\u3067\u3042\u308a\u3001\u4e00\u822c\u7684\u306b\u91cd\u8907\u306e\u65b9\u304c\u8eab\u4f53\u7684\u306a\u5947\u5f62\u306f\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308b\u3053\u3068\u3092\u8aac\u660e\u3057\u3001\u6b63\u3057\u3044\u898b\u901a\u3057\u3092\u6301\u3066\u308b\u3088\u3046\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408\u306e\u6b21\u5b50\u30ea\u30b9\u30af\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\u308a\u307e\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>8q12 microduplication syndrome\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u4f53\u306e\u767a\u80b2\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u91cd\u8907\u3059\u308b\u3068\u3001\u767a\u9054\u306e\u30da\u30fc\u30b9\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u3063\u305f\u308a\u3001\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u304b\u3063\u305f\u308a\u3068\u3044\u3063\u305f\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3084\u300c\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u300d\u306f\u5927\u304d\u306a\u4e0d\u5b89\u306e\u7a2e\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u8abf\u3079\u308b\u3068\u3001\u95a2\u9023\u3059\u308b\u300c\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u300d\u306e\u91cd\u3044\u75c7\u72b6\u304c\u76ee\u306b\u5165\u308a\u3001\u5fc3\u914d\u3055\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u300c\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u306f\u3001\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u3068\u306f\u7570\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u91cd\u7be4\u306a\u5185\u81d3\u306e\u5947\u5f62\uff08\u5fc3\u81d3\u3084\u76ee\u306a\u3069\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u751f\u547d\u4e88\u5f8c\u306f\u5b89\u5b9a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306f\u3001\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u904b\u52d5\u3084\u8a00\u8449\u306e\u767a\u9054\u306b\u6642\u9593\u306f\u304b\u304b\u308a\u307e\u3059\u304c\u3001\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u7740\u5b9f\u306b\u3067\u304d\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u4eba\u61d0\u3063\u3053\u3044\u7b11\u9854\u3092\u898b\u305b\u3066\u304f\u308c\u305f\u308a\u3001\u72ec\u81ea\u306e\u611f\u6027\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3068\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u9b45\u529b\u306b\u3042\u3075\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5468\u56f2\u306e\u7406\u89e3\u3092\u5f97\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3053\u3068\u3067\u3001\u5fc5\u8981\u306a\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\u3084\u6559\u80b2\u652f\u63f4\uff09\u306b\u3064\u306a\u304c\u308b\u305f\u3081\u306e\u300c\u30d1\u30b9\u30dd\u30fc\u30c8\u300d\u3092\u624b\u306b\u5165\u308c\u305f\u3068\u8a00\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u5fc3\u7406\u58eb\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u7126\u3089\u305a\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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>Tushe, E., et al.<\/strong> (2014). <em>8q12.1-q12.2 microduplication containing the CHD7 gene associated with developmental delay and specific facial features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCHD7\u907a\u4f1d\u5b50\u3092\u542b\u30808q12\u91cd\u8907\u3092\u6301\u3064\u60a3\u8005\u306e\u75c7\u4f8b\u5831\u544a\u3002\u767a\u9054\u9045\u6ede\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u3092\u8a73\u8ff0\u3057\u3001\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\uff08\u6b20\u5931\uff09\u3068\u306e\u81e8\u5e8a\u50cf\u306e\u9055\u3044\u3092\u660e\u78ba\u306b\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Balasubramanian, M., et al.<\/strong> (2013). <em>Case series: 8q12 microduplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b8q12\u9818\u57df\u306e\u91cd\u8907\u3092\u6301\u3064\u8907\u6570\u306e\u60a3\u8005\u3092\u6bd4\u8f03\u691c\u8a0e\u3057\u305f\u30b1\u30fc\u30b9\u30b7\u30ea\u30fc\u30ba\u3002CHD7\u91cd\u8907\u306b\u3088\u308b\u8868\u73fe\u578b\uff08\u77e5\u7684\u969c\u5bb3\u3001\u6210\u9577\u969c\u5bb3\u306a\u3069\uff09\u306e\u5171\u901a\u70b9\u3068\u500b\u4eba\u5dee\u306b\u3064\u3044\u3066\u5206\u6790\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bergman, J.E., et al.<\/strong> (2011). <em>CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCHD7\u907a\u4f1d\u5b50\u306e\u5909\u7570\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u95a2\u3059\u308b\u7dcf\u8aac\u3060\u304c\u3001\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08\u30cf\u30d7\u30ed\u4e0d\u5168 vs \u91cd\u8907\uff09\u306e\u89b3\u70b9\u304b\u3089\u30018q12\u91cd\u8907\u306e\u75c5\u614b\u7406\u89e3\u306b\u3082\u8cc7\u3059\u308b\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>8q duplications<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30018q\u91cd\u8907\u5168\u822c\u306e\u7279\u5fb4\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u30028q12\u9818\u57df\u306b\u95a2\u3059\u308b\u8a18\u8ff0\u3082\u542b\u3080\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mastromoro, G., et al.<\/strong> (2020). <em>CHD7 molecular alterations and the associated clinical spectrum.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCHD7\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b66\u7684\u5909\u7570\uff08\u6b20\u5931\u3001\u5909\u7570\u3001\u91cd\u8907\uff09\u3068\u81e8\u5e8a\u50cf\u306e\u76f8\u95a2\u3092\u5305\u62ec\u7684\u306b\u30ec\u30d3\u30e5\u30fc\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>CHD7<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bCHD7\u907a\u4f1d\u5b50\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08\u91cd\u8907\u306b\u3088\u308b\u75c5\u539f\u6027\uff09\u306b\u95a2\u3059\u308b\u79d1\u5b66\u7684\u8a55\u4fa1\u3002\u91cd\u8907\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u306e\u30a8\u30d3\u30c7\u30f3\u30b9\u304c\u8a55\u4fa1\u3055\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/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> 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