{"id":16898,"date":"2026-01-21T01:59:05","date_gmt":"2026-01-21T01:59:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16898"},"modified":"2026-01-21T02:00:22","modified_gmt":"2026-01-21T02:00:22","slug":"1q21-1-duplication-distal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1q21-1-duplication-distal-syndrome\/","title":{"rendered":"1q21.1 duplication (distal) 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>1q21.1\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\u578b\uff09<\/li>\n\n\n\n<li>1q21.1\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff081q21.1 microduplication syndrome\uff09<\/li>\n\n\n\n<li>1q21.1\u518d\u767a\u6027\u5fae\u7d30\u91cd\u8907\uff08Recurrent 1q21.1 microduplication\uff09<\/li>\n\n\n\n<li>1q21.1\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 1q21.1\uff09<\/li>\n\n\n\n<li>1q21.1\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff081q21.1 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a1q21.1\u6b20\u5931\u75c7\u5019\u7fa4\uff081q21.1 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u3068\u300c\u5bfe\uff08\u3064\u3044\uff09\u300d\u306b\u306a\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u306e\u5b9a\u7fa9\u306b\u3064\u3044\u3066\uff1a<\/p>\n\n\n\n<p>1q21.1\u9818\u57df\u306b\u306f\u300c\u8fd1\u4f4d\uff08Proximal\uff09\u300d\u3068\u300c\u9060\u4f4d\uff08Distal\uff09\u300d\u306e2\u3064\u306e\u6b20\u5931\/\u91cd\u8907\u597d\u767a\u90e8\u4f4d\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8fd1\u4f4d\u91cd\u8907\u300d\u306fTAR\u75c7\u5019\u7fa4\u306e\u9818\u57df\u306b\u95a2\u9023\u3057\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u300c1q21.1\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3068\u8a00\u3046\u5834\u5408\u3001\u3088\u308a\u5e83\u7bc4\u56f2\u3067\u81e8\u5e8a\u75c7\u72b6\u304c\u9855\u8457\u306a**\u300c\u9060\u4f4d\u91cd\u8907\uff08Class II duplication\uff09\u300d**\u3092\u6307\u3059\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u9060\u4f4d\u91cd\u8907\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\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>1\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921.1\u9818\u57df\uff08\u9060\u4f4d\u9818\u57df\uff1aBP3-BP4\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e1\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c21.1\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c<strong>\u91cd\u8907<\/strong>\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\u93e1\u50cf\u52b9\u679c\uff08Mirror Effect\uff09\u300d\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u3001\u907a\u4f1d\u5b50\u75be\u60a3\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u30e6\u30cb\u30fc\u30af\u306a\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u304f\u540c\u3058\u9818\u57df\uff08BP3\u304b\u3089BP4\u306e\u9593\u3001\u7d041.35Mb\uff09\u304c\u3001\u300c\u6b20\u5931\u300d\u3059\u308b\u3068\u5c0f\u982d\u75c7\u306b\u306a\u308a\u3001\u300c\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09\u300d\u3059\u308b\u3068\u5927\u982d\u75c7\u306b\u306a\u308b\u3068\u3044\u3046\u3001\u307e\u308b\u3067\u93e1\u306b\u6620\u3057\u305f\u3088\u3046\u306a\u9006\u306e\u73fe\u8c61\u304c\u898b\u3089\u308c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u3001\u8eab\u4f53\u306e\u30b5\u30a4\u30ba\u3084\u8133\u306e\u767a\u9054\u91cf\u306b\u5bfe\u3057\u3066\u3001\u30a2\u30af\u30bb\u30eb\u3084\u30d6\u30ec\u30fc\u30ad\u306e\u3088\u3046\u306b\u7cbe\u5bc6\u306b\u50cd\u3044\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u91cd\u8907\u9818\u57df\uff08BP3-BP4\uff09\u306b\u306f\u7d0410\u500b\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u75c7\u72b6\u3068\u306e\u95a2\u9023\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u306e\u306f\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>BCL9 (B-Cell CLL\/Lymphoma 9):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u982d\u75c7\u306e\u9375\u3068\u306a\u308b\u907a\u4f1d\u5b50<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>BCL9<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u5897\u6b96\u30b7\u30b0\u30ca\u30eb\uff08Wnt\u7d4c\u8def\uff09\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u52d5\u7269\u5b9f\u9a13\u306a\u3069\u304b\u3089\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3059\u308b\u3068\u8133\u3084\u982d\u304c\u5c0f\u3055\u304f\u306a\u308a\uff08\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3001\u904e\u5270\u306b\u306a\u308b\u3068\u8133\u3084\u982d\u304c\u5927\u304d\u304f\u306a\u308b\uff08\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u304a\u308a\u3001\u672c\u75be\u60a3\u306e\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u5f62\u6210\u306b\u5f37\u304f\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GJA5 (Gap Junction Protein Alpha 5):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5fc3\u75be\u60a3\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3082\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3092\u542b\u3080\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u4e0a\u6607\uff08\u6b20\u5931\u3088\u308a\u306f\u983b\u5ea6\u304c\u4f4e\u3044\u50be\u5411\uff09\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CHD1L (Chromodomain Helicase DNA Binding Protein 1 Like):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u69cb\u9020\uff08\u30af\u30ed\u30de\u30c1\u30f3\uff09\u3092\u5909\u5316\u3055\u305b\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001DNA\u4fee\u5fa9\u3084\u7d30\u80de\u5206\u88c2\u306b\u95a2\u308f\u308a\u307e\u3059\u3002\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u30ea\u30b9\u30af\u306b\u95a2\u9023\u3059\u308b\u3068\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>\u6bd4\u8f03\u7684\u9ad8\u3044\uff08\u7d041\/1,000 \u301c 1\/3,000\uff09\u53ef\u80fd\u6027\u3042\u308a<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3088\u308a\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u898f\u6a21\u306a\u4eba\u53e3\u8abf\u67fb\u3067\u306f\u3001\u4e00\u822c\u96c6\u56e3\u306e\u7d040.03%\u301c0.05%\u306b\u898b\u3064\u304b\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u5f8c\u8ff0\u3059\u308b\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08\u75c7\u72b6\u304c\u51fa\u306a\u3044\uff09\u300d\u306e\u5272\u5408\u304c\u6b20\u5931\u75c7\u5019\u7fa4\u3088\u308a\u3082\u3055\u3089\u306b\u9ad8\u3044\u305f\u3081\u3001**\u300c\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u4fdd\u56e0\u8005\u300d**\u304c\u793e\u4f1a\u306e\u4e2d\u306b\u591a\u6570\u5b58\u5728\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306b\u4f55\u3089\u304b\u306e\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\u3084\u7cbe\u795e\u75be\u60a3\u306a\u3069\uff09\u3092\u6301\u3063\u3066\u691c\u67fb\u3092\u53d7\u3051\u308b\u4eba\u306e\u4e2d\u3067\u306e\u983b\u5ea6\u306f\u9ad8\u304f\u306a\u308a\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>1q21.1 duplication (distal) syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u300d\u3068\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08Variable Expressivity\uff09\u300d\u304c\u975e\u5e38\u306b\u9855\u8457\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5168\u304f\u5065\u5eb7\u306a\u4eba\u3082\u3044\u308c\u3070\u3001\u767a\u9054\u969c\u5bb3\u3084\u7cbe\u795e\u75be\u60a3\u3092\u6301\u3064\u4eba\u3082\u304a\u308a\u3001\u305d\u306e\u73fe\u308c\u65b9\u306f\u5343\u5dee\u4e07\u5225\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u4f53\u7684\u306a\u50be\u5411\u3068\u3057\u3066\u3001\u8eab\u4f53\u7684\u306a\u5947\u5f62\u306f\u5c11\u306a\u304f\u3001\u300c\u795e\u7d4c\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u306a\u7279\u5fb4\u300d\u3068\u300c\u982d\u306e\u5927\u304d\u3055\u300d**\u304c\u4e3b\u8981\u306a\u75c7\u72b6\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u5bfe\u6bd4\u304c\u6700\u3082\u5206\u304b\u308a\u3084\u3059\u3044\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0450%\u4ee5\u4e0a\u306b\u898b\u3089\u308c\u308b\u3001\u6700\u3082\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u6642\u304b\u3089\u982d\u304c\u5927\u304d\u3044\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u4e73\u5e7c\u5150\u671f\u306e\u5065\u8a3a\u3067\u300c\u982d\u56f2\u304c\u6210\u9577\u66f2\u7dda\u306e\u4e0a\u9650\u3092\u8d85\u3048\u3066\u3044\u308b\u300d\u3068\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6c34\u982d\u75c7\uff08\u8133\u306b\u6c34\u304c\u305f\u307e\u308b\u75c5\u6c17\uff09\u3068\u306f\u7570\u306a\u308a\u3001\u8133\u306e\u5b9f\u8cea\u305d\u306e\u3082\u306e\u306e\u5bb9\u7a4d\u304c\u5927\u304d\u3044\uff08Megalencephaly\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8133\u5ba4\u62e1\u5927\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u524d\u982d\u90e8\u306e\u7a81\u51fa\uff08Frontal bossing\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u3067\u3053\u304c\u524d\u306b\u51fa\u3066\u3044\u3066\u3001\u5e83\u3044\u5370\u8c61\u3092\u4e0e\u3048\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>\u7279\u7570\u7684\u306a\u9854\u3064\u304d\uff08Dysmorphism\uff09\u306f\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5e73\u5766\u306a\u9f3b\u6839\u90e8\u3001\u5c16\u3063\u305f\u984e\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\uff08Neuropsychiatric\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u3001\u6700\u3082\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u3044\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001**\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\uff08Normal IQ\uff09**\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u3084\u3001\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\u304c\u5e7c\u5150\u671f\u306b\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:<\/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\u3084\u3001\u3053\u3060\u308f\u308a\u3068\u3044\u3063\u305fASD\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\u300c\u9ad8\u6a5f\u80fd\u81ea\u9589\u75c7\u300d\u306e\u30bf\u30a4\u30d7\u3082\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75be\u60a3\uff08Schizophrenia &amp; Mood disorders\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u975e\u5e38\u306b\u91cd\u8981\u306a\u7279\u5fb4<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u4eba\u671f\u4ee5\u964d\u3001<strong>\u7d71\u5408\u5931\u8abf\u75c7<\/strong>\u3084\u53cc\u6975\u6027\u969c\u5bb3\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u3001\u4e00\u822c\u96c6\u56e3\u306b\u6bd4\u3079\u3066\u6709\u610f\u306b\u9ad8\u3044\u3053\u3068\u304c\u591a\u6570\u306e\u7814\u7a76\u3067\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3082\u3061\u308d\u3093\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u30011q21.1\u91cd\u8907\u306f\u3001\u751f\u7269\u5b66\u7684\u306a\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u56e0\u5b50\uff08CNV\uff09\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u4e0d\u5b89\u969c\u5bb3\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Cardiac defects\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\u307b\u3069\u9ad8\u983b\u5ea6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\uff08Tetralogy of Fallot\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3082\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u6d41\u51fa\u8def\u7570\u5e38\uff08\u5fc3\u81d3\u304b\u3089\u8840\u7ba1\u304c\u51fa\u308b\u90e8\u5206\u306e\u7570\u5e38\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f<em>GJA5<\/em>\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u304c\u5f71\u97ff\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306e\u4e00\u822c\u7684\u306a\u5fc3\u75be\u60a3\u3082\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\u307e\u305f\u306f\u9ad8\u8eab\u9577:<\/strong> \u6210\u9577\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\uff08\u5927\u982d\u75c7\u306b\u4f34\u3044\u80cc\u304c\u9ad8\u3044\u30b1\u30fc\u30b9\u3068\u3001\u9006\u306b\u767a\u80b2\u4e0d\u826f\u306e\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u306e\u67d4\u8edf\u6027\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>1\u756a\u67d3\u8272\u4f53\u9577\u8155\uff081q21.1\uff09\u306b\u304a\u3051\u308b\u7d041.35Mb\u306e\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>\u3053\u306e\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u300c\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u300d\u304c\u3001BP3\u3068BP4\u3068\u3044\u3046\u5834\u6240\u306b\u914d\u7f6e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u30a8\u30e9\u30fc\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u308b\uff08\u6b20\u5931\uff09\u3068\u540c\u6642\u306b\u3001**\u3082\u3046\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u500d\u306b\u5897\u3048\u308b\uff08\u91cd\u8907\uff09**\u3068\u3044\u3046\u73fe\u8c61\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u30011q21.1\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u91cd\u8907\u75c7\u5019\u7fa4\u304c\u300c\u8868\u88cf\u4e00\u4f53\u300d\u306e\u95a2\u4fc2\u306b\u3042\u308b\u7406\u7531\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306f\u300c\u591a\u3051\u308c\u3070\u826f\u3044\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u901a\u5e382\u30b3\u30d4\u30fc\u3067\u30d0\u30e9\u30f3\u30b9\u304c\u53d6\u308c\u3066\u3044\u308b\u3082\u306e\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u4f5c\u3089\u308c\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u3001\u7d30\u80de\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3084\u767a\u751f\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u304c\u4e71\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b<em>BCL9<\/em>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u8133\u7d30\u80de\u306e\u5897\u6b96\u30b7\u30b0\u30ca\u30eb\u304c\u5f37\u307e\u308a\u3001\u5927\u982d\u75c7\u3084\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u7570\u5e38\uff08\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af\uff09\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f\u3068\u4e0d\u5b8c\u5168\u6d78\u900f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u4e00\u90e8\u306f\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09\u306e\u983b\u5ea6\u304c\u9ad8\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1q21.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u3066**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d**\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\uff08\u7d0470%\u4ee5\u4e0a\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u8efd\u3044\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u306a\u3044\u89aa\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u304c\u591a\u3044\u305f\u3081\u3001\u6c17\u3065\u304b\u308c\u306a\u3044\u307e\u307e\u5b50\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u304b\u3089\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u306e\u8a3a\u65ad\u306f\u56f0\u96e3\u3067\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u3084\u5927\u982d\u75c7\u3001\u3042\u308b\u3044\u306f\u5bb6\u65cf\u6b74\u306e\u7cbe\u67fb\u3067\u898b\u3064\u304b\u308a\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1q21.1\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3092\u691c\u51fa\u3059\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>\u91cd\u8907\u306e\u30b5\u30a4\u30ba\u3084\u4f4d\u7f6e\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u307e\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>\u672c\u75be\u60a3\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u305d\u306e\u89aa\u306e\u5065\u5eb7\u72b6\u614b\u3084\u7cbe\u795e\u72b6\u614b\u306a\u3069\u306e\u60c5\u5831\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u3092\u4e88\u6e2c\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u53c2\u8003\u60c5\u5831\u3068\u306a\u308a\u307e\u3059\uff08\u305f\u3060\u3057\u3001\u8868\u73fe\u578b\u306f\u5bb6\u65cf\u5185\u3067\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u5b8c\u5168\u306b\u4e88\u6e2c\u3067\u304d\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff09\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>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\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\u767a\u9054\u30fb\u7cbe\u795e\u9762\u3067\u306e\u30b5\u30dd\u30fc\u30c8\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>\u767a\u9054\u306e\u9045\u308c\u3084ASD\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\uff08SST\uff1a\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u306a\u3069\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u7684\u914d\u616e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u80fd\u529b\u306f\u6b63\u5e38\u7bc4\u56f2\u306e\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3084ADHD\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u74b0\u5883\u8abf\u6574\uff08\u9759\u304b\u306a\u74b0\u5883\u3067\u306e\u5b66\u7fd2\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u306e\u6d3b\u7528\u306a\u3069\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5b66\u529b\u3092\u4f38\u3070\u3059\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u533b\u5b66\u7684\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u4e88\u9632\u3068\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u7ba1\u7406\u30dd\u30a4\u30f3\u30c8\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u3001\u30b9\u30c8\u30ec\u30b9\u8010\u6027\u306e\u4f4e\u4e0b\u3084\u3001\u6c17\u5206\u306e\u5909\u52d5\u3001\u7d71\u5408\u5931\u8abf\u75c7\u69d8\u306e\u75c7\u72b6\uff08\u5e7b\u8074\u3084\u5984\u60f3\u306a\u3069\uff09\u304c\u51fa\u73fe\u3057\u306a\u3044\u304b\u3001\u9577\u671f\u7684\u306b\u898b\u5b88\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u30ea\u30b9\u30af\u304c\u3042\u308b\u300d\u3068\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u4e0d\u8abf\u306e\u30b5\u30a4\u30f3\u3092\u65e9\u671f\u306b\u30ad\u30e3\u30c3\u30c1\u3057\u3001\u65e9\u671f\u306b\u5c02\u9580\u533b\u306b\u3064\u306a\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u65e9\u671f\u4ecb\u5165\u306b\u3088\u308a\u3001\u4e88\u5f8c\u3092\u5927\u304d\u304f\u6539\u5584\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u56f2\u6e2c\u5b9a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306f\u5b9a\u671f\u7684\u306b\u982d\u56f2\u3092\u6e2c\u5b9a\u3057\u307e\u3059\u3002\u6025\u6fc0\u306a\u5897\u5927\u3084\u795e\u7d4c\u75c7\u72b6\uff08\u5614\u5410\u306a\u3069\uff09\u304c\u306a\u3051\u308c\u3070\u3001\u5927\u982d\u75c7\u305d\u306e\u3082\u306e\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u306f\u4e0d\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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\u7570\u5e38\u304c\u306a\u3051\u308c\u3070\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u306f\u4e0d\u8981\u306a\u5834\u5408\u304c\u591a\u3044\u3067\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>\u89aa\u304c\u300c\u81ea\u5206\u3082\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u300d\u3068\u77e5\u3063\u305f\u6642\u306e\u885d\u6483\u3084\u3001\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u300d\u3068\u3044\u3046\u7f6a\u60aa\u611f\u306b\u5bfe\u3057\u3066\u3001\u4e01\u5be7\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u3067\u3059\u3002\u3053\u308c\u306f\u81ea\u7136\u306a\u751f\u7269\u5b66\u7684\u73fe\u8c61\u3067\u3042\u308a\u3001\u8ab0\u306e\u8cac\u4efb\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u75c7\u72b6\u306e\u306a\u3044\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3001\u300c\u91cd\u8907\u304c\u3042\u3063\u3066\u3082\u5065\u5eb7\u306b\u751f\u6d3b\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u300d\u3068\u3044\u3046\u5e0c\u671b\u7684\u306a\u60c5\u5831\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5168\u4f53\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u3068\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u306e\u305f\u3081\u306b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u7d99\u7d9a\u7684\u306a\u5229\u7528\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>1q21.1 duplication (distal) syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u300c\u982d\u304c\u5c11\u3057\u5927\u304d\u3081\u300d\u3067\u3042\u308b\u3053\u3068\u3068\u3001\u300c\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u3068\u3066\u3082\u5927\u304d\u3044\u300d\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u52c9\u5f37\u3084\u904b\u52d5\u304c\u5f97\u610f\u3067\u3001\u5168\u304f\u666e\u901a\u306b\u751f\u6d3b\u3057\u3066\u3044\u308b\u4eba\u3082\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u4eba\u3068\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3001\u5fc3\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3057\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u4eba\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a3a\u65ad\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u500b\u6027\u300d\u3084\u300c\u5f97\u610f\u30fb\u4e0d\u5f97\u610f\u300d\u306e\u80cc\u666f\u306b\u3042\u308b\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u304c\u5206\u304b\u3063\u305f\u3001\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u5fc3\u306e\u5065\u5eb7\u306b\u3064\u3044\u3066\u306f\u3001\u3042\u3089\u304b\u3058\u3081\u300c\u30c7\u30ea\u30b1\u30fc\u30c8\u306a\u4f53\u8cea\u304b\u3082\u3057\u308c\u306a\u3044\u300d\u3068\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u3001\u5c06\u6765\u306e\u5927\u304d\u306a\u6b66\u5668\u306b\u306a\u308a\u307e\u3059\u3002\u30b9\u30c8\u30ec\u30b9\u3092\u6e9c\u3081\u8fbc\u307e\u306a\u3044\u74b0\u5883\u4f5c\u308a\u3084\u3001\u65e9\u3081\u306e\u76f8\u8ac7\u3092\u5fc3\u304c\u3051\u308b\u3053\u3068\u3067\u3001\u5065\u3084\u304b\u306a\u751f\u6d3b\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3060\u3051\u3067\u60a9\u307e\u305a\u3001\u533b\u5e2b\u3001\u5fc3\u7406\u58eb\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u8c4a\u304b\u306a\u53ef\u80fd\u6027\u3092\u4e00\u7dd2\u306b\u80b2\u3066\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>Mefford, H.C., et al.<\/strong> (2008). <em>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.<\/em> New England Journal of Medicine.\n<ul class=\"wp-block-list\">\n<li>(\u203b1q21.1\u9818\u57df\u306e\u6b20\u5931\u30fb\u91cd\u8907\u3092\u767a\u898b\u3057\u3001\u5927\u982d\u75c7\u3084\u767a\u9054\u7279\u6027\u3001\u7cbe\u795e\u75be\u60a3\u3068\u306e\u95a2\u9023\u3092\u89e3\u6790\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u57fa\u790e\u3068\u306a\u308b\u6700\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bernier, R., et al.<\/strong> (2016). <em>Clinical phenotype of the recurrent 1q21.1 copy-number variant.<\/em> Genetics in Medicine.\n<ul class=\"wp-block-list\">\n<li>(\u203b1q21.1\u91cd\u8907\u3092\u6301\u3064\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\u3092\u8abf\u67fb\u3057\u3001\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u5c0f\u982d\u75c7\uff09\u3068\u306e\u5bfe\u6bd4\u306b\u304a\u3044\u3066\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u5927\u982d\u75c7\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u3053\u3068\u3001\u304a\u3088\u3073\u81ea\u9589\u75c7\u3068\u306e\u95a2\u9023\u3092\u5831\u544a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Stefansson, H., et al.<\/strong> (2008). <em>Large recurrent microdeletions associated with schizophrenia.<\/em> Nature.\n<ul 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class=\"wp-block-list\">\n<li>(\u203b1q21.1\u9818\u57df\u306e\u6b20\u5931\u3068\u91cd\u8907\u304c\u3001\u305d\u308c\u305e\u308c\u5c0f\u982d\u75c7\u3068\u5927\u982d\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u93e1\u50cf\u52b9\u679c\u300d\u3092\u6301\u3064\u3053\u3068\u3001\u304a\u3088\u3073BCL9\u907a\u4f1d\u5b50\u306a\u3069\u306e\u95a2\u4e0e\u3092\u793a\u5506\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Soemedi, R., et al.<\/strong> (2012). <em>Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306b\u304a\u3051\u308b1q21.1\u91cd\u8907\u306e\u5f71\u97ff\u3001\u7279\u306bGJA5\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u3068\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>1q21.1 microduplications<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u3001\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af\u3078\u306e\u5bfe\u5fdc\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 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