{"id":17111,"date":"2026-01-21T06:46:52","date_gmt":"2026-01-21T06:46:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17111"},"modified":"2026-01-21T06:46:52","modified_gmt":"2026-01-21T06:46:52","slug":"6q11-q14-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/6q11-q14-deletion-syndrome\/","title":{"rendered":"6q11-q14 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>6q11-q14\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>6q\u8fd1\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4\uff08Proximal 6q deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b6\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u300c\u4ed8\u3051\u6839\uff08\u8fd1\u4f4d\uff09\u300d\u5074\u306e\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u533b\u5b66\u7684\u5206\u985e\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>6q11-q14\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff086q11-q14 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>6q\u4e2d\u9593\u90e8\u6b20\u5931\uff08Interstitial deletion of 6q\uff09<\/li>\n\n\n\n<li>6q11-q14\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 6q11-q14\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a6q11, 6q12, 6q13, 6q14\u6b20\u5931\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u7bc4\u56f2\u304c\u3053\u308c\u3089\u306e\u30d0\u30f3\u30c9\u306e\u4e00\u90e8\u306b\u9650\u5c40\u3059\u308b\u5834\u5408\u3082\u3001\u540c\u69d8\u306e\u81e8\u5e8a\u50cf\u3092\u793a\u3059\u305f\u3081\u3001\u5e83\u7fa9\u306b\u542b\u307e\u308c\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>6\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911\u304b\u308914\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u3001\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff08\u67d3\u8272\u4f53\u306e\u304f\u3073\u308c\u90e8\u5206\uff09\u306b\u8fd1\u3044**\u300c11\u300d\u304b\u3089\u300c14\u300d**\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\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\u3068\u300c\u8fd1\u4f4d\u6b20\u5931\u300d\u306e\u7279\u5fb4\u3011<\/p>\n\n\n\n<p>6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u6b20\u5931\u306f\u3001\u6b20\u5931\u3059\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u672b\u7aef\u6b20\u5931\uff086q26-qter\uff09\uff1a<\/strong> \u8133\u5947\u5f62\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u304c\u4e3b\u75c7\u72b6\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8fd1\u4f4d\u6b20\u5931\uff086q11-q14\uff09\uff1a\u672c\u75be\u60a3<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u4e2d\u9593\u90e8\u5206\u304c\u629c\u3051\u308b\u300c\u4e2d\u9593\u6b20\u5931\uff08Interstitial deletion\uff09\u300d\u306e\u4e00\u7a2e\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001**\u300c\u7d50\u5408\u7d44\u7e54\uff08\u4f53\u306e\u3064\u306a\u304e\u76ee\uff09\u306e\u7570\u5e38\u300d<strong>\u3084<\/strong>\u300c\u7279\u5fb4\u7684\u306a\u4f53\u578b\uff08\u77ed\u3044\u9996\u306a\u3069\uff09\u300d**\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u672b\u7aef\u6b20\u5931\u3068\u306f\u660e\u78ba\u306b\u533a\u5225\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u591a\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u75c7\u72b6\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>COL12A1 (Collagen, Type XII, Alpha 1):<\/strong> 6q13-q14.1\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30e9\u30fc\u30b2\u30f3\uff08\u7d50\u5408\u7d44\u7e54\uff09\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u672c\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b**\u300c\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\uff09\u300d<strong>\u3084<\/strong>\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d<strong>\u3001<\/strong>\u300c\u76ae\u819a\u306e\u5f3e\u529b\u6027\u306e\u7570\u5e38\u300d**\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30d9\u30b9\u30ec\u30e0\u30df\u30aa\u30d1\u30c1\u30fc\u3084\u30a6\u30eb\u30ea\u30c3\u30d2\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3068\u306e\u95a2\u9023\u3082\u7814\u7a76\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SNAP91:<\/strong> 6q14.2\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u4f1d\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SYNCRIP:<\/strong> 6q14.3\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\u3084\u795e\u7d4c\u6a5f\u80fd\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u77e5\u7684\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u304c\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TBX18:<\/strong> 6q14.1\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u683c\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3042\u308a\u3001\u8033\u306e\u5f62\u6210\u7570\u5e38\u306a\u3069\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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>6\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u81ea\u4f53\u304c\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u304c\u3001\u305d\u306e\u4e2d\u3067\u3082\u300c\u8fd1\u4f4d\u6b20\u5931\u300d\u306f\u5831\u544a\u6570\u304c\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\u301c\u767e\u4f8b\u672a\u6e80\u306e\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u7279\u5fb4\u7684\u306a\u5927\u5947\u5f62\u3092\u4f34\u308f\u306a\u3044\u5834\u5408\u3001\u8a3a\u65ad\u306b\u81f3\u3089\u306a\u3044\u307e\u307e\u904e\u3054\u3057\u3066\u3044\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5f90\u3005\u306b\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\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>6q11-q14 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u4f53\u578b\u300d\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u7d50\u5408\u7d44\u7e54\u306e\u554f\u984c\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u300c\u9996\u304c\u77ed\u304f\u3001\u76ae\u819a\u304c\u4f59\u3063\u3066\u3044\u308b\u300d**\u3068\u3044\u3046\u5916\u898b\u7684\u7279\u5fb4\u304c\u3001\u8a3a\u65ad\u306e\u6700\u521d\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u4f53\u578b\u30fb\u9854\u8c8c\uff08Dysmorphic features\uff09<\/strong><\/p>\n\n\n\n<p>\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\uff08\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u3084\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3068\u4e00\u90e8\u5171\u901a\u3059\u308b\u7279\u5fb4\u3092\u6301\u3064\u305f\u3081\u3001\u9451\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u3044\u9996\u30fb\u7ffc\u72b6\u9838\uff08Short neck \/ Webbed neck\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9996\u304c\u77ed\u304f\u898b\u3048\u3001\u9996\u306e\u6a2a\u306b\u6c34\u304b\u304d\u306e\u3088\u3046\u306a\u76ae\u819a\u306e\u4f59\u308a\uff08\u7ffc\u72b6\u9838\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e38\u3044\u9854\uff08Round face\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7279\u5fb4:<\/strong> \u773c\u77bc\u88c2\u659c\u4e0a\uff08\u30c4\u30ea\u76ee\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u7403\u72b6\u306e\u9f3b\u5148\uff08\u56e3\u5b50\u9f3b\uff09\u3001\u9f3b\u6839\u90e8\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u8584\u3044\u4e0a\u5507\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3001\u9ad8\u53e3\u84cb\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3001\u5927\u304d\u306a\u8033\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u500b\u4eba\u5dee\u3082\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7b4b\u9aa8\u683c\u7cfb\u30fb\u7d50\u5408\u7d44\u7e54\u306e\u7570\u5e38\uff08Connective tissue issues\uff09<\/strong><\/p>\n\n\n\n<p><em>COL12A1<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u4f53\u3092\u652f\u3048\u308b\u7d44\u7e54\u304c\u5f31\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u904e\u4f38\u5c55\uff08Joint hypermobility\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u95a2\u7bc0\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u304f\u3001\u53ef\u52d5\u57df\u304c\u5e83\u3059\u304e\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6307\u304c\u53cd\u308a\u8fd4\u308b\u3001\u8098\u3084\u819d\u304c\u9006\u306b\u66f2\u304c\u308b\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\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\u62b1\u304d\u5fc3\u5730\u304c\u983c\u308a\u306a\u3044\u3001\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30d8\u30eb\u30cb\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2<\/strong>\uff08\u8131\u8178\uff09\u3084<strong>\u81cd\u30d8\u30eb\u30cb\u30a2<\/strong>\uff08\u3067\u3079\u305d\uff09\u3092\u9ad8\u983b\u5ea6\u3067\u5408\u4f75\u3057\u307e\u3059\u3002\u7d44\u7e54\u306e\u819c\u304c\u5f31\u3044\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u3001\u624b\u8db3\u306e\u5c0f\u3055\u3055\u3001\u77ed\u6307\u75c7\uff08\u6307\u304c\u77ed\u3044\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u7d99\u7d9a\u7684\u306a\u652f\u63f4\u306b\u3088\u308a\u7740\u5b9f\u306b\u4f38\u3073\u3066\u3044\u304d\u307e\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\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u304c\u4e0d\u660e\u77ad\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7406\u89e3\u529b\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8eab\u632f\u308a\u3084\u5358\u8a9e\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u53ef\u80fd\u3067\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>\u6b69\u884c\u958b\u59cb\u306f2\u6b73\u301c4\u6b73\u9803\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u72ec\u6b69\u3092\u7372\u5f97\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6210\u9577\u30fb\u6804\u990a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u4f53\u91cd\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e7c\u5150\u671f\u307e\u3067\u306f\u8eab\u9577\u30fb\u4f53\u91cd\u3068\u3082\u306b\u5897\u3048\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306f\u6a19\u6e96\u7bc4\u56f2\u306b\u8ffd\u3044\u3064\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a5\u6e80\u306e\u30ea\u30b9\u30af:<\/strong> 6q14\u3088\u308a\u5c11\u3057\u4e0b\u306e\u9818\u57df\uff086q16\uff09\u306b\u306f\u80a5\u6e80\u95a2\u9023\u907a\u4f1d\u5b50\uff08SIM1\uff09\u304c\u3042\u308a\u307e\u3059\u304c\u30016q14\u6b20\u5931\u306e\u60a3\u8005\u3055\u3093\u3067\u3082\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u904e\u98df\u3084\u80a5\u6e80\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u3001\u4f53\u91cd\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u54fa\u4e73\u56f0\u96e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u306f\u5438\u3046\u529b\u304c\u5f31\u304f\u3001\u6388\u4e73\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0430\u301c40%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u4e71\u8996\uff09\u3001\u773c\u632f\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a:<\/strong> \u6e7f\u75b9\u304c\u3067\u304d\u3084\u3059\u3044\u3001\u76ae\u819a\u304c\u67d4\u3089\u304b\u304f\u4f38\u3073\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8133\u753b\u50cf\u6240\u898b:<\/strong> \u8133\u6881\u6b20\u640d\u3084\u8133\u5ba4\u62e1\u5927\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u7570\u7684\u306a\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53\u9577\u8155\uff086q11-q14\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/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>6q11-q14\u6b20\u5931\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\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3084\u300c\u9006\u4f4d\u300d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>6\u756a\u67d3\u8272\u4f53\u306e\u8fd1\u4f4d\u90e8\u306f\u3001\u6bd4\u8f03\u7684\u67d3\u8272\u4f53\u306e\u7d44\u307f\u63db\u3048\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u5834\u6240\u304c\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\uff08COL12A1\u306a\u3069\uff09\u304c1\u30bb\u30c3\u30c8\uff08\u7247\u89aa\u5206\uff09\u3057\u304b\u306a\u304f\u306a\u308a\u3001\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u7d50\u5408\u7d44\u7e54\u306e\u5f37\u5ea6\u304c\u4fdd\u3066\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u7269\u8cea\u304c\u4e0d\u8db3\u3057\u305f\u308a\u3057\u3066\u75c7\u72b6\u304c\u73fe\u308c\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\u77ed\u3044\u9996\u300d\u300c\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\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>6q11-q14\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u672b\u7aef\u6b20\u5931\uff086q26\u306a\u3069\uff09\u3084\u3001\u4ed6\u306e\u75c7\u5019\u7fa4\uff08\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3068\u306e\u9451\u5225\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>G\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\uff08\u6838\u578b\u5206\u6790\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u30b5\u30a4\u30ba\u304c\u5927\u304d\u3044\u5834\u5408\uff08\u6570Mb\u4ee5\u4e0a\uff09\u3001\u9855\u5fae\u93e1\u691c\u67fb\u3067\u3082\u300c6q-\u300d\u3068\u3057\u3066\u767a\u898b\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981:<\/strong> \u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001<strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb<\/strong>\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u89aa\u306e\u8ee2\u5ea7\uff08\u5bb6\u65cf\u6027\uff09\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3067\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>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u80fd\u529b\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8eab\u4f53\u7684\u30b1\u30a2\u30fb\u5408\u4f75\u75c7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5faa\u74b0\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u6642\u306b\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc3\u75be\u60a3\u304c\u3042\u308c\u3070\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3084\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u30fb\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3084\u81cd\u30d8\u30eb\u30cb\u30a2\u304c\u3042\u308b\u5834\u5408\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3084\u88c5\u5177\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3044\u305f\u3081\u3001\u8131\u81fc\u3084\u637b\u632b\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3084\u5f31\u8996\u306e\u65e9\u671f\u767a\u898b\u30fb\u6cbb\u7642\uff08\u773c\u93e1\u88c5\u7528\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80a5\u6e80\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b66\u7ae5\u671f\u4ee5\u964d\u3001\u4f53\u91cd\u304c\u5897\u3048\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6804\u990a\u6307\u5c0e\u3084\u904b\u52d5\u7fd2\u6163\u306e\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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\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\u308b\u904a\u3073\u3092\u53d6\u308a\u5165\u308c\u3001\u5b89\u5b9a\u3057\u305f\u6b69\u884c\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\u304c\u3042\u308b\u5834\u5408\u3001\u95a2\u7bc0\u3092\u5b88\u308b\u3088\u3046\u306a\u8eab\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u6307\u5c0e\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<\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u6642\u671f\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\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u8efd\u6e1b\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>\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u500b\u3005\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\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>\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u60c5\u5831\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304b\u3089\u3001\u75be\u60a3\u306e\u7279\u6027\u3084\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\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\u306e\u691c\u67fb\u7d50\u679c\u306b\u57fa\u3065\u304d\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u77ed\u3044\u9996\u300d\u306a\u3069\u306e\u5916\u898b\u7684\u7279\u5fb4\u306b\u3064\u3044\u3066\u3001\u3069\u306e\u3088\u3046\u306b\u5468\u56f2\u306b\u8aac\u660e\u3059\u308b\u304b\u3001\u672c\u4eba\u304c\u6c17\u306b\u3057\u305f\u6642\u306b\u3069\u3046\u5bfe\u5fdc\u3059\u308b\u304b\u306a\u3069\u3082\u76f8\u8ac7\u3067\u304d\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>6q11-q14 deletion syndrome\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u300c\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u90e8\u5206\u300d\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u9996\u304c\u3061\u3087\u3053\u3093\u3068\u77ed\u304f\u898b\u3048\u305f\u308a\u3001\u4f53\u304c\u3068\u3066\u3082\u67d4\u3089\u304b\u304b\u3063\u305f\u308a\u3068\u3001\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u4f53\u3064\u304d\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u4f53\u3092\u652f\u3048\u308b\u30b3\u30e9\u30fc\u30b2\u30f3\u306a\u3069\u306e\u6210\u5206\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u304c\u5c11\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u30d8\u30eb\u30cb\u30a2\u306e\u624b\u8853\u306a\u3069\u306f\u5fc3\u914d\u4e8b\u304b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u5947\u5f62\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u751f\u547d\u4e88\u5f8c\u306f\u4e00\u822c\u7684\u306b\u826f\u597d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u4f53\u304c\u30d5\u30cb\u30e3\u30d5\u30cb\u30e3\u3068\u3057\u3066\u3044\u3066\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u3082\u904b\u52d5\u3059\u308b\u306e\u3082\u3086\u3063\u304f\u308a\u30da\u30fc\u30b9\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u4f53\u3082\u3057\u3063\u304b\u308a\u3057\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3092\u8a71\u3059\u306e\u306f\u5c11\u3057\u82e6\u624b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u304a\u308a\u3001\u30cb\u30b3\u30cb\u30b3\u3068\u3057\u305f\u8868\u60c5\u3084\u8eab\u632f\u308a\u3067\u8c4a\u304b\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u3063\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u3084\u30d8\u30eb\u30cb\u30a2\u306a\u3069\u306e\u4f53\u8cea\u3092\u7406\u89e3\u3057\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u30b1\u30a2\u3092\u884c\u3044\u306a\u304c\u3089\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u5897\u3084\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5c06\u6765\u7684\u306b\u592a\u308a\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u306e\u3067\u3001\u5065\u5eb7\u7684\u306a\u98df\u751f\u6d3b\u3092\u5fc3\u304c\u3051\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u30e6\u30cb\u30fc\u30af\u306a\u500b\u6027\u3068\u6210\u9577\u3092\u3001\u9577\u304f\u3001\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>Engels, H., et al.<\/strong> (2018). <em>Comprehensive phenotype-genotype correlation in patients with proximal interstitial 6q deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6q\u8fd1\u4f4d\u6b20\u5931\uff086q11-q16\uff09\u3092\u6301\u3064\u591a\u6570\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u3001\u6b20\u5931\u90e8\u4f4d\u3054\u3068\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u7406\u89e3\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u5305\u62ec\u7684\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mosca-Boidron, A.L., et al.<\/strong> (2016). <em>Interstitial 6q13q16 deletion in a patient with severe intellectual disability and dysmorphic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6q13-q16\u6b20\u5931\u306e\u75c7\u4f8b\u5831\u544a\u3002\u77ed\u3044\u9996\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u3001\u304a\u3088\u3073COL12A1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u8003\u5bdf\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hopkin, R.J., et al.<\/strong> (1997). <em>Interstitial deletion of the long arm of chromosome 6 (6q11-q15) associated with webbing of the neck.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6q11-q15\u6b20\u5931\u304c\u300c\u7ffc\u72b6\u9838\uff08Webbed neck\uff09\u300d\u3084\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u69d8\u306e\u8868\u73fe\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u5831\u544a\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Quintana, M., et al.<\/strong> (2014). <em>Deletion 6q13-q15 associated with connective tissue laxity and muscular hypotonia.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6q\u8fd1\u4f4d\u6b20\u5931\u306b\u304a\u3051\u308b\u7d50\u5408\u7d44\u7e54\u306e\u7570\u5e38\uff08\u95a2\u7bc0\u904e\u4f38\u5c55\uff09\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001COL12A1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u306e\u95a2\u9023\u3092\u5f37\u304f\u793a\u5506\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>6q proximal deletions (6q11-q16)<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u8fd1\u4f4d\u6b20\u5931\u7279\u6709\u306e\u75c7\u72b6\uff08\u30d8\u30eb\u30cb\u30a2\u3001\u77ed\u3044\u9996\u306a\u3069\uff09\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\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> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17111","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\/17111","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17111\/revisions"}],"predecessor-version":[{"id":17112,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17111\/revisions\/17112"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17111"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}