{"id":17153,"date":"2026-01-21T07:27:06","date_gmt":"2026-01-21T07:27:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17153"},"modified":"2026-01-21T07:28:23","modified_gmt":"2026-01-21T07:28:23","slug":"7q11-23-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/7q11-23-duplication-syndrome\/","title":{"rendered":"7q11.23 duplication 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>7q11.23\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u30b5\u30de\u30fc\u30d3\u30eb\u30fb\u30f4\u30a1\u30f3\u30fb\u30c0\u30fc\u30fb\u30a2\u30fc\u75c7\u5019\u7fa4\uff08Somerville-Van der Aa syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u4f53\u7cfb\u5316\u3057\u305fSomerville\u535a\u58eb\u3089\u306b\u3061\u306a\u3093\u3060\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u30fb\u30d3\u30e5\u30fc\u30ec\u30f3\u75c7\u5019\u7fa4\u9818\u57df\u91cd\u8907\uff08Duplication of the Williams-Beuren syndrome region\uff09<\/li>\n\n\n\n<li>7q11.23\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 7q11.23\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff08Williams syndrome \/ WBS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u3068\u5bfe\u306b\u306a\u308b\u300c\u6b20\u5931\u300d\u75be\u60a3\u3067\u3059\u3002\u540c\u3058\u5834\u6240\u306e\u7570\u5e38\u3067\u3059\u304c\u3001\u75c7\u72b6\u306f\u5bfe\u7167\u7684\u3067\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>7\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911.23\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e7\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c11.23\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\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\u300c\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u300d\u3068\u306e\u95a2\u4fc2\u3011<\/p>\n\n\n\n<p>7q11.23\u9818\u57df\u306b\u306f\u3001\u7d041.5\u301c1.8Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u306e\u7bc4\u56f2\u306b\u3001\u7d0426\u301c28\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306b\u975e\u5e38\u306b\u8208\u5473\u6df1\u3044\u6027\u8cea\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\uff08Deletion\uff09\uff1a<\/strong> \u3053\u306e\u9818\u57df\u304c\u7247\u65b9\u306a\u304f\u306a\u308b\u3068\u3001**\u300c\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u300d**\u306b\u306a\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\uff1a\u5996\u7cbe\u69d8\u9854\u8c8c\u3001\u793e\u4ea4\u7684\u3067\u591a\u5f01\u3001\u5fc3\u81d3\u5f01\u306e\u72ed\u7a84\uff08\u786c\u304f\u306a\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u8907\uff08Duplication\uff09\uff1a\u672c\u75be\u60a3<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u9818\u57df\u304c1\u3064\u5897\u3048\u30663\u672c\u5206\u306b\u306a\u308b\u3068\u3001**\u300c7q11.23\u91cd\u8907\u75c7\u5019\u7fa4\u300d**\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\uff1a\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u3068\u306f\u9006\u306e\u7279\u5fb4\uff08\u975e\u793e\u4ea4\u7684\u3001\u8a00\u8449\u306e\u9045\u308c\u3001\u5fc3\u81d3\u8840\u7ba1\u306e\u62e1\u5f35\uff09\u304c\u73fe\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3092**\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\u300d**\u3068\u547c\u3073\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306f\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/p>\n\n\n\n<p>\u91cd\u8907\u3059\u308b\u7d0426\u500b\u306e\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3001\u7279\u306b\u75c7\u72b6\u5f62\u6210\u306b\u91cd\u8981\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u306e\u304c\u4ee5\u4e0b\u306e2\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ELN (Elastin):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u7ba1\u3084\u76ae\u819a\u306e\u5f3e\u529b\u3092\u4f5c\u308b\u300c\u30a8\u30e9\u30b9\u30c1\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff09:<\/strong> \u30a8\u30e9\u30b9\u30c1\u30f3\u4e0d\u8db3\u3067\u8840\u7ba1\u304c\u786c\u304f\u72ed\u304f\u306a\u308a\u307e\u3059\uff08\u5927\u52d5\u8108\u5f01\u4e0a\u72ed\u7a84\uff09\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09:<\/strong> \u30a8\u30e9\u30b9\u30c1\u30f3\u904e\u5270\u3067\u8840\u7ba1\u304c\u67d4\u3089\u304b\u304f\u5e83\u304c\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\uff08\u5927\u52d5\u8108\u62e1\u5f35\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GTF2I (General Transcription Factor IIi):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\u3084\u884c\u52d5\u7279\u6027\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931:<\/strong> \u793e\u4ea4\u6027\u304c\u9ad8\u304f\u306a\u308a\u3001\u4e0d\u5b89\u3092\u611f\u3058\u306b\u304f\u304f\u306a\u308a\u307e\u3059\uff08\u8ab0\u306b\u3067\u3082\u8a71\u3057\u304b\u3051\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907:<\/strong> \u793e\u4ea4\u4e0d\u5b89\u304c\u5f37\u304f\u306a\u308a\u3001\u7279\u5b9a\u306e\u5834\u6240\u3067\u8a71\u305b\u306a\u304f\u306a\u308b\uff08\u5834\u9762\u7dd8\u9ed9\uff09\u306a\u3069\u306e\u7279\u6027\u304c\u73fe\u308c\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>\u7a00\u3060\u304c\u3001\u904e\u5c11\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<p>\u63a8\u5b9a\u983b\u5ea6\u306f\u3001\u51fa\u751f7,500\u4eba\u301c13,000\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff087,500\u301c20,000\u4eba\u306b1\u4eba\uff09\u3068\u540c\u7a0b\u5ea6\u304b\u3001\u305d\u308c\u4ee5\u4e0a\u306b\u983b\u5ea6\u304c\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u672c\u75be\u60a3\u306e\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306f\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u307b\u3069\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u5358\u306a\u308b\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u3084\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u304c\u76f8\u5f53\u6570\u3042\u308b\u3068\u8003\u3048\u3089\u308c\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>7q11.23 duplication syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u300c\u5f37\u3044\u4e0d\u5b89\u30fb\u5834\u9762\u7dd8\u9ed9\u300d\u300c\u81ea\u9589\u7684\u7279\u6027\u300d<strong>\u306a\u3069\u306e\u884c\u52d5\u9762\u306e\u7279\u5fb4\u3068\u3001<\/strong>\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u5927\u982d\u75c7\u300d**\u306a\u3069\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u3044\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\u8a00\u8a9e\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u767a\u9054\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede\uff08Speech delay\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u9855\u8457\u306a\u7279\u5fb4<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u304c\u300c\u304a\u3057\u3083\u3079\u308a\u4e0a\u624b\uff08\u591a\u5f01\uff09\u300d\u306a\u306e\u306b\u5bfe\u3057\u3001\u672c\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u304f\u3001\u7279\u306b\u300c\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u6027\u8a00\u8a9e\uff09\u300d\u306b\u82e6\u624b\u3055\u3092\u6301\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3067\u3001\u300c\u7406\u89e3\u3059\u308b\u3053\u3068\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u300d\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u5206\u304b\u3063\u3066\u3044\u308b\u306e\u306b\u8a00\u8449\u306b\u3067\u304d\u306a\u3044\u3001\u3068\u3044\u3046\u72b6\u6cc1\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u69cb\u97f3\u969c\u5bb3\uff08Dyspraxia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53e3\u306e\u52d5\u304b\u3057\u65b9\u304c\u4e0d\u5668\u7528\u3067\u3001\u767a\u97f3\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\u3001\u3088\u3060\u308c\u304c\u591a\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u767a\u9054:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e45\u304c\u5e83\u3044\u3067\u3059\u3002\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5883\u754c\u57df\u3084\u6b63\u5e38\u77e5\u80fd\uff08\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\uff09\u306e\u30b1\u30fc\u30b9\u3082\u7d0420\u301c30%\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u975e\u8a00\u8a9e\u6027\u80fd\u529b\uff08\u30d1\u30ba\u30eb\u3084\u8996\u899a\u7684\u306a\u8ab2\u984c\uff09\u306e\u65b9\u304c\u3001\u8a00\u8a9e\u6027\u80fd\u529b\u3088\u308a\u3082\u9ad8\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u306e\u9006\u30d1\u30bf\u30fc\u30f3\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3084\u5b66\u6821\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u306b\u304a\u3044\u3066\u3001\u6700\u3082\u7406\u89e3\u304c\u5fc5\u8981\u306a\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5b89\u969c\u5bb3\uff08Anxiety disorders\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u304c\u5f37\u3044\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u6c17\u8cea\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5206\u96e2\u4e0d\u5b89:<\/strong> \u89aa\u304b\u3089\u96e2\u308c\u308b\u3053\u3068\u3092\u6975\u5ea6\u306b\u6016\u304c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5834\u9762\u7dd8\u9ed9\uff08Selective Mutism\uff09\uff1a<\/strong> \u5bb6\u3067\u306f\u304a\u8a71\u3057\u3067\u304d\u308b\u306e\u306b\u3001\u5b66\u6821\u3084\u516c\u5171\u306e\u5834\u306a\u3069\u7279\u5b9a\u306e\u72b6\u6cc1\u3067\u5168\u304f\u8a71\u305b\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u75c7\u72b6\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\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\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3068\u3044\u3063\u305fASD\u7279\u6027\u304c\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u5178\u578b\u7684\u306aASD\u3068\u306f\u7570\u306a\u308a\u3001\u300c\u4eba\u3078\u306e\u95a2\u5fc3\u306f\u3042\u308b\u3051\u308c\u3069\u3001\u4e0d\u5b89\u304c\u5f37\u3059\u304e\u3066\u95a2\u308f\u308c\u306a\u3044\u300d\u3068\u3044\u3046\u30bf\u30a4\u30d7\u306e\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u6ce8\u610f\u3001\u591a\u52d5\u3001\u885d\u52d5\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53cd\u6297\u6311\u6226\u6027\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u304f\u3001\u653b\u6483\u7684\u306b\u306a\u3063\u305f\u308a\u3001\u304b\u3093\u3057\u3083\u304f\u3092\u8d77\u3053\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\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>\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u3068\u306f\u7570\u306a\u308b\u3001\u72ec\u81ea\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5927\u304d\u304f\u3001\u304a\u3067\u3053\u304c\u5e83\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u7d0450%\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e00\u76f4\u7dda\u306e\u7709\u6bdb\uff08Straight eyebrows\uff09<\/strong>\u3002<\/li>\n\n\n\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3001\u9577\u3044\u307e\u3064\u6bdb\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u304f\u9ad8\u3044\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u5148\u304c\u5e45\u5e83\uff08Broad nasal tip\uff09<\/strong>\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306e\u7279\u5fb4\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>4. \u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u3068\u306f\u300c\u9006\u300d\u306e\u73fe\u8c61\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u52d5\u8108\u62e1\u5f35\uff08Aortic dilation\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a8\u30e9\u30b9\u30c1\u30f3\u907a\u4f1d\u5b50\u306e\u904e\u5270\u306b\u3088\u308a\u3001\u8840\u7ba1\u306e\u58c1\u304c\u67d4\u3089\u304b\u304f\u306a\u308a\u3059\u304e\u3001\u592a\u304f\u306a\u308b\uff08\u62e1\u5f35\u3059\u308b\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5927\u52d5\u8108\u306e\u6839\u5143\uff08\u57fa\u90e8\uff09\u304c\u62e1\u5f35\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u307b\u3069\u306e\u91cd\u75c7\u4f8b\u306f\u3001\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u306e\u8840\u7ba1\u72ed\u7a84\u306b\u6bd4\u3079\u308b\u3068\u5c11\u306a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u795e\u7d4c\u5b66\u7684\u7279\u5fb4\u30fb\u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5354\u8abf\u904b\u52d5\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5668\u7528\u3055\u304c\u3042\u308a\u3001\u904b\u52d5\u304c\u82e6\u624b\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059\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>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\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>\u4fbf\u79d8\u3001\u907a\u5c3f\u75c7\uff08\u304a\u306d\u3057\u3087\uff09\u3001\u659c\u8996\u3001\u95a2\u7bc0\u306e\u7de9\u3055\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\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>7\u756a\u67d3\u8272\u4f53\u9577\u8155\uff087q11.23\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\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>7q11.23\u9818\u57df\u306f\u3001\u67d3\u8272\u4f53\u306e\u69cb\u9020\u4e0a\u3001\u975e\u5e38\u306b\u30a8\u30e9\u30fc\u304c\u8d77\u304d\u3084\u3059\u3044\u300c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001DNA\u306e\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\uff08LCR\uff1aLow Copy Repeats\uff09\u304c\u3044\u304f\u3064\u3082\u4e26\u3093\u3067\u3044\u307e\u3059\u3002\u7d30\u80de\u5206\u88c2\u306e\u969b\u3001\u3053\u306e\u30d6\u30ed\u30c3\u30af\u540c\u58eb\u304c\u5834\u6240\u3092\u9593\u9055\u3048\u3066\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3044\u3001\u305d\u306e\u7d50\u679c\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u300c\u6b20\u5931\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff09\u300d\u304c\u3001\u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u300c\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09\u300d\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u81ea\u7136\u767a\u751f\u7684\u306a\u30a8\u30e9\u30fc\u3067\u3042\u308a\u3001\u89aa\u306e\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u3084\u74b0\u5883\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\uff1a\u5bb6\u65cf\u6027\u304c\u591a\u3044<\/strong><\/p>\n\n\n\n<p>\u3053\u3053\u304c\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/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>\u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u767a\u751f\u3059\u308b\u30b1\u30fc\u30b9\uff08\u7d0470%\uff09\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><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\u306b\u6bd4\u3079\u3066\u9ad8\u3044\u983b\u5ea6\uff08\u7d0430%\uff09\u3067\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\u300c\u5185\u6c17\u306a\u6027\u683c\u300d\u300c\u52c9\u5f37\u304c\u82e6\u624b\u3060\u3063\u305f\u300d\u7a0b\u5ea6\u3067\u8a3a\u65ad\u3055\u308c\u305a\u306b\u904e\u3054\u3057\u3066\u3044\u308b\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\u3084\u8efd\u75c7\u4f8b\uff09\u5834\u5408\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>3. \u30a8\u30e9\u30b9\u30c1\u30f3\u3068GTF2I\u306e\u904e\u5270<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u524d\u8ff0\u306e\u901a\u308a\u3001<em>ELN<\/em>\u907a\u4f1d\u5b50\u306e\u904e\u5270\u304c\u8840\u7ba1\u62e1\u5f35\u3092\u3001<em>GTF2I<\/em>\u907a\u4f1d\u5b50\u306e\u904e\u5270\u304c\u4e0d\u5b89\u3084\u8a8d\u77e5\u6a5f\u80fd\u306e\u7279\u6027\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u3044\u3046\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u300d\u304c\u75c5\u614b\u306e\u4e2d\u5fc3\u3067\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\u8a00\u8449\u306e\u9045\u308c\u300d\u300c\u5f37\u3044\u4e0d\u5b89\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u5927\u982d\u306a\u3069\uff09\u300d\u304c\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u539f\u56e0\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u7591\u308f\u308c\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>7q11.23\u9818\u57df\u306e\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u65703\uff09\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u306e\u691c\u67fb\u3068\u3057\u3066\u3088\u304f\u4f7f\u308f\u308c\u308bFISH\u6cd5\u3067\u3059\u304c\u3001\u91cd\u8907\u306e\u8a3a\u65ad\u306b\u3082\u4f7f\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u691c\u67fb\u30aa\u30fc\u30c0\u30fc\u6642\u306b\u300c\u6b20\u5931\u3060\u3051\u3067\u306a\u304f\u91cd\u8907\u3082\u898b\u3066\u304f\u3060\u3055\u3044\u300d\u3068\u4f1d\u3048\u306a\u3044\u3068\u3001\u898b\u9003\u3055\u308c\u308b\uff08\u91cd\u8907\u306f\u898b\u306a\u3044\uff09\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790:<\/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\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u89aa\u306e\u30b5\u30dd\u30fc\u30c8\u65b9\u91dd\u3084\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u95a2\u308f\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>\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\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u30fb\u6559\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u8a00\u8a9e\u652f\u63f4\uff08\u6700\u512a\u5148\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\u3084\u69cb\u97f3\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u65e9\u671f\u304b\u3089\u4ecb\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u306e\u4f53\u64cd\uff08\u53e3\u8154\u7b4b\u6a5f\u80fd\u7642\u6cd5\uff09\u3084\u3001\u8a00\u8449\u3068\u7d75\u306e\u30de\u30c3\u30c1\u30f3\u30b0\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u6642\u671f\u306f\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6d3b\u7528\u3057\u3001\u300c\u4f1d\u3048\u305f\u3044\u306e\u306b\u4f1d\u308f\u3089\u306a\u3044\u300d\u30b9\u30c8\u30ec\u30b9\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5fc3\u7406\u30fb\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5b89\u3078\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5834\u9762\u7dd8\u9ed9\u3084\u5206\u96e2\u4e0d\u5b89\u306b\u5bfe\u3057\u3001\u7121\u7406\u306b\u8a71\u3055\u305b\u3088\u3046\u3068\u305b\u305a\u3001\u5b89\u5fc3\u3067\u304d\u308b\u74b0\u5883\u3065\u304f\u308a\u3092\u512a\u5148\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u5150\u7ae5\u7cbe\u795e\u79d1\u533b\u306b\u3088\u308b\u30d7\u30ec\u30a4\u30bb\u30e9\u30d4\u30fc\u3084\u3001\u8a8d\u77e5\u884c\u52d5\u7642\u6cd5\uff08\u5e74\u9f62\u306b\u3088\u308b\uff09\u3001\u6297\u4e0d\u5b89\u85ac\u306a\u3069\u306e\u85ac\u7269\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u96c6\u56e3\u3067\u306e\u6d3b\u52d5\u3092\u901a\u3058\u3066\u3001\u4eba\u3068\u306e\u95a2\u308f\u308a\u65b9\u3092\u5c11\u3057\u305a\u3064\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\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\u5927\u52d5\u8108\u306e\u592a\u3055\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u62e1\u5f35\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\uff08\u6570\u5e74\u306b1\u56de\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002\u8840\u5727\u7ba1\u7406\u3082\u91cd\u8981\u3067\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>\u4fbf\u79d8\u3001\u659c\u8996\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u304c\u3042\u308c\u3070\u3001\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u79d1\u3067\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \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>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u300c7q11.23\u300d\u3068\u691c\u7d22\u3059\u308b\u3068\u3001\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u306e\u60c5\u5831\u304c\u591a\u304f\u51fa\u3066\u304d\u3066\u6df7\u4e71\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u9006\u306e\u73fe\u8c61\u3067\u3042\u308b\u300d\u3053\u3068\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u904e\u5ea6\u306a\u4e0d\u5b89\u3092\u53d6\u308a\u9664\u304d\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\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u300c\u81ea\u5206\u306e\u305b\u3044\u3060\u300d\u3068\u8cac\u3081\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u300c\u907a\u4f1d\u7684\u306a\u4f53\u8cea\u300d\u3068\u3057\u3066\u6349\u3048\u76f4\u3057\u3001\u89aa\u81ea\u8eab\u306e\u7279\u6027\uff08\u4e0d\u5b89\u306b\u306a\u308a\u3084\u3059\u3044\u306a\u3069\uff09\u3078\u306e\u7406\u89e3\u306b\u3082\u7e4b\u3052\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>7q11.23 duplication syndrome\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u6709\u540d\u306a\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u3068\u300c\u93e1\u5408\u308f\u305b\u300d\u306e\u95a2\u4fc2\u306b\u3042\u308a\u307e\u3059\u3002\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u304c\u793e\u4ea4\u7684\u3067\u304a\u3057\u3083\u3079\u308a\u306a\u306e\u306b\u5bfe\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u5c11\u3057\u5185\u6c17\u3067\u3001\u8a00\u8449\u3092\u8a71\u3059\u306e\u304c\u3086\u3063\u304f\u308a\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u4e00\u756a\u5fc3\u914d\u3055\u308c\u308b\u306e\u306f\u3001\u300c\u5bb6\u3067\u306f\u304a\u3057\u3083\u3079\u308a\u306a\u306e\u306b\u3001\u5916\u3067\u306f\u4e00\u8a00\u3082\u8a71\u3055\u306a\u3044\uff08\u5834\u9762\u7dd8\u9ed9\uff09\u300d\u3068\u3044\u3063\u305f\u884c\u52d5\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u308f\u304c\u307e\u307e\u3084\u80b2\u3066\u65b9\u306e\u305b\u3044\u3067\u306f\u306a\u304f\u3001\u751f\u307e\u308c\u3064\u304d\u300c\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u5165\u3063\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7279\u6027\u3092\u7406\u89e3\u3059\u308b\u3060\u3051\u3067\u3001\u304a\u5b50\u3055\u3093\u3078\u306e\u63a5\u3057\u65b9\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7121\u7406\u306b\u8a71\u3055\u305b\u3088\u3046\u3068\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u5b89\u5fc3\u3067\u304d\u308b\u5834\u6240\u3092\u5897\u3084\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u5c11\u3057\u305a\u3064\u5916\u306e\u4e16\u754c\u3068\u3082\u3064\u306a\u304c\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5fc3\u81d3\u306e\u8840\u7ba1\u304c\u5c11\u3057\u5e83\u304c\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3092\u53d7\u3051\u3066\u3044\u308c\u3070\u3001\u904e\u5ea6\u306b\u5fc3\u914d\u3059\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u30d1\u30ba\u30eb\u3084\u30d6\u30ed\u30c3\u30af\u306a\u3069\u306e\u8996\u899a\u7684\u306a\u904a\u3073\u304c\u5f97\u610f\u306a\u3053\u3068\u3082\u591a\u304f\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u624d\u80fd\u3092\u79d8\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u4f53\u8cea\u306f\u89aa\u5fa1\u3055\u3093\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u89aa\u5b50\u3067\u4f3c\u305f\u7279\u6027\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u89aa\u5fa1\u3055\u3093\u304c\u4e00\u756a\u306e\u7406\u89e3\u8005\u306b\u306a\u308c\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u8a00\u8a9e\u8074\u899a\u58eb\u3001\u5fc3\u7406\u58eb\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\u7e4a\u7d30\u3067\u8c4a\u304b\u306a\u5185\u9762\u3092\u5b88\u308a\u306a\u304c\u3089\u3001\u305d\u306e\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>Somerville, M.J., et al.<\/strong> (2005). <em>Severe expressive-language delay related to duplication of the Williams-Beuren locus.<\/em> New England Journal of Medicine.\n<ul class=\"wp-block-list\">\n<li>(\u203b7q11.23\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\u3001\u7279\u306b\u300c\u91cd\u5ea6\u306e\u8868\u51fa\u6027\u8a00\u8a9e\u9045\u6ede\u300d\u3092\u521d\u3081\u3066\u4f53\u7cfb\u7684\u306b\u5831\u544a\u3057\u3001\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u3068\u306e\u5bfe\u6bd4\u3092\u660e\u78ba\u306b\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Van der Aa, N., et al.<\/strong> (2009). <em>Fourteen new cases contribute to the clinical spectrum of the 7q11.23 microduplication syndrome.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e\u75c7\u4f8b\u3092\u96c6\u7a4d\u3057\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u4e00\u76f4\u7dda\u306e\u7709\u306a\u3069\uff09\u3001\u5927\u982d\u75c7\u3001\u884c\u52d5\u7279\u6027\uff08\u4e0d\u5b89\u3001ASD\uff09\u306a\u3069\u306e\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u8a73\u7d30\u306b\u5b9a\u7fa9\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Morris, C.A., et al.<\/strong> (2015). <em>7q11.23 Duplication Syndrome.<\/em> GeneReviews.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u3068\u306e\u6bd4\u8f03\u30c7\u30fc\u30bf\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Velleman, S.L., et al.<\/strong> (2010). <em>Motor speech disorders in children with 7q11.23 duplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u8a00\u8a9e\u969c\u5bb3\u306e\u7279\u5fb4\u3092\u3001\u7279\u306b\u300c\u5c0f\u5150\u671f\u767a\u8a9e\u5931\u884c\uff08CAS\uff09\u300d\u306a\u3069\u306e\u904b\u52d5\u6027\u69cb\u97f3\u969c\u5bb3\u306e\u89b3\u70b9\u304b\u3089\u89e3\u6790\u3057\u305f\u5c02\u9580\u7684\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mervis, C.B., et al.<\/strong> (2015). <em>Speech and language abilities of children with 7q11.23 duplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a00\u8a9e\u80fd\u529b\u306e\u8a73\u7d30\u306a\u8a55\u4fa1\u3092\u884c\u3044\u3001\u53d7\u5bb9\u8a00\u8a9e\uff08\u7406\u89e3\uff09\u306b\u6bd4\u3079\u3066\u8868\u51fa\u8a00\u8a9e\uff08\u767a\u8a71\uff09\u304c\u8457\u3057\u304f\u9045\u308c\u308b\u3068\u3044\u3046\u4e0d\u5747\u8861\u3055\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>7q11.23 duplications<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u5bb6\u5ead\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3001\u4e0d\u5b89\u3078\u306e\u5bfe\u5fdc\u3001\u5b66\u6821\u751f\u6d3b\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-17153","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\/17153","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17153\/revisions"}],"predecessor-version":[{"id":17157,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17153\/revisions\/17157"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17153"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}