{"id":16890,"date":"2026-01-21T01:51:10","date_gmt":"2026-01-21T01:51:10","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16890"},"modified":"2026-01-21T01:51:10","modified_gmt":"2026-01-21T01:51:10","slug":"1q21-1-deletion-distal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1q21-1-deletion-distal-syndrome\/","title":{"rendered":"1q21.1 deletion (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\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\u578b\uff09<\/li>\n\n\n\n<li>1q21.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff081q21.1 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>1q21.1\u518d\u767a\u6027\u5fae\u7d30\u6b20\u5931\uff08Recurrent 1q21.1 microdeletion\uff09<\/li>\n\n\n\n<li>1q21.1\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u6b20\u5931\uff09\uff081q21.1 copy number variant, deletion\uff09<\/li>\n\n\n\n<li>1q21.1\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1q21.1\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3010\u95a2\u9023\u75be\u60a3\u3068\u306e\u533a\u5225\u306b\u3064\u3044\u3066\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>1q21.1\u91cd\u8907\u75c7\u5019\u7fa4\uff081q21.1 duplication syndrome\uff09:<br>\u672c\u75be\u60a3\u3068\u300c\u5bfe\u300d\u306b\u306a\u308b\u75be\u60a3\u3067\u3059\u3002\u540c\u3058\u9818\u57df\u304c\u5897\u3048\u308b\uff08\u91cd\u8907\u3059\u308b\uff09\u3053\u3068\u3067\u751f\u3058\u307e\u3059\u3002\u6b20\u5931\u578b\u304c\u300c\u5c0f\u982d\u75c7\u300d\u306b\u306a\u308a\u3084\u3059\u3044\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u578b\u306f\u300c\u5927\u982d\u75c7\u300d\u306b\u306a\u308a\u3084\u3059\u3044\u306a\u3069\u3001\u93e1\u5408\u308f\u305b\u306e\u3088\u3046\u306a\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>TAR\u75c7\u5019\u7fa4\uff08Thrombocytopenia-Absent Radius syndrome\uff09:<br>\u751f\u307e\u308c\u3064\u304d\u8155\u306e\u9aa8\uff08\u6a48\u9aa8\uff09\u304c\u306a\u304f\u3001\u8840\u5c0f\u677f\u304c\u6e1b\u5c11\u3059\u308b\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3059\u3002TAR\u75c7\u5019\u7fa4\u306e\u767a\u75c7\u306b\u306f\u30011q21.1\u9818\u57df\u306e\u6b20\u5931\uff08\u7279\u306b\u8fd1\u4f4d\u5074\u306eRBM8A\u907a\u4f1d\u5b50\u306e\u6e1b\u5c11\uff09\u304c\u5fc5\u8981\u6761\u4ef6\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u672c\u9805\u3067\u89e3\u8aac\u3059\u308b\u300c1q21.1\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306f\u81e8\u5e8a\u50cf\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u4e3b\u306b\u7cbe\u795e\u767a\u9054\u3084\u5fc3\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b**\u300c\u9060\u4f4d\uff08distal\uff09\u6b20\u5931\u300d**\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/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>1\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921.1\u9818\u57df\uff08\u9060\u4f4d\u9818\u57df\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\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\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u300d\u3011<\/p>\n\n\n\n<p>1q21.1\u9818\u57df\u306f\u3001\u67d3\u8272\u4f53\u306e\u69cb\u9020\u7684\u306b\u975e\u5e38\u306b\u8907\u96d1\u3067\u3001\u4e0d\u5b89\u5b9a\u306a\u5834\u6240\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300c\u53cd\u5fa9\u914d\u5217\uff08LCR: Low Copy Repeats\uff09\u300d\u304c\u8907\u6570\u5b58\u5728\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u76ee\u5370\uff08\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\uff1aBP\uff09\u3068\u306a\u3063\u3066\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9060\u4f4d\u6b20\u5931\uff08Class II deletion\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u5178\u578b\u7684\u306a\u6b20\u5931\u7bc4\u56f2\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>BP3\uff08\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c83\uff09\u304b\u3089BP4\uff08\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c84\uff09\u306e\u9593<\/strong>\u306b\u3042\u308b\u3001\u7d041.35\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u9818\u57df\u304c\u6b20\u5931\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8fd1\u4f4d\u6b20\u5931\uff08Class I deletion\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>BP2\u304b\u3089BP3\u306e\u9593\u306e\u6b20\u5931\u3067\u3001\u3053\u308c\u306f\u4e3b\u306bTAR\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u9818\u57df\u3067\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>BP3-BP4\u306e\u9060\u4f4d\u6b20\u5931\u9818\u57df\u306b\u306f\u3001\u5c11\u306a\u304f\u3068\u308210\u500b\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u3068\u306e\u95a2\u9023\u304c\u5f37\u304f\u793a\u5506\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>GJA5 (Gap Junction Protein Alpha 5):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u7d30\u80de\u540c\u58eb\u3092\u3064\u306a\u3050\u300c\u30ae\u30e3\u30c3\u30d7\u7d50\u5408\u300d\u3092\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u30b3\u30cd\u30ad\u30b7\u30f340\uff09\u306e\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\u306b\u898b\u3089\u308c\u308b**\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\uff09**\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>BCL9 (B-Cell CLL\/Lymphoma 9):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\u30b5\u30a4\u30ba\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u578b\uff08\u672c\u75be\u60a3\uff09\u3067<strong>\u5c0f\u982d\u75c7<\/strong>\u3001\u91cd\u8907\u578b\u3067\u5927\u982d\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u982d\u306e\u5927\u304d\u3055\u306b\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><strong>ACP6, PRKAB2, CHD1L:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u305d\u306e\u4ed6\u3001\u795e\u7d4c\u767a\u9054\u3084\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u8907\u5408\u7684\u306b\u4f5c\u7528\u3057\u3066\u75c7\u72b6\u3092\u5f62\u6210\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\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\u983b\u5ea6\u304c\u9ad8\u3044\uff08\u7d041\/2,000 \u301c 1\/4,000\uff09<\/strong><\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306e\u4e2d\u3067\u306f\u3001\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u983b\u5ea6\u3092\u7279\u5b9a\u3059\u308b\u306e\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b1q21.1\u5fae\u7d30\u6b20\u5931\uff08\u304a\u3088\u3073\u91cd\u8907\uff09\u306e\u4fdd\u56e0\u7387\u306f\u3001\u7d040.03%\uff083,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\uff09\u3068\u3059\u308b\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u306a\u305c\u300c\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u4eba\u300d\u304c\u591a\u3044\u306e\u304b\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u6570\u5024\u306b\u5bfe\u3057\u3066\u3001\u5b9f\u969b\u306b\u75c5\u9662\u3067\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u6570\u306f\u5c11\u306a\u304f\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u305d\u306e\u7406\u7531\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u304c\u8efd\u3044\u3001\u307e\u305f\u306f\u7121\u3044:<\/strong> \u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u660e\u3089\u304b\u306a\u969c\u5bb3\u304c\u51fa\u306a\u3044\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u4eba\u304c\u591a\u304f\u5b58\u5728\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u691c\u67fb\u306e\u58c1: \u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u767a\u898b\u3067\u304d\u307e\u305b\u3093\u3002<br>\u3057\u305f\u304c\u3063\u3066\u3001\u767a\u9054\u969c\u5bb3\u3084\u7cbe\u795e\u75be\u60a3\u3092\u6301\u3064\u65b9\u306e\u4e2d\u306b\u3001\u672a\u8a3a\u65ad\u306e\u307e\u307e\u3053\u306e\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u65b9\u304c\u4e00\u5b9a\u6570\u542b\u307e\u308c\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\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 deletion (distal) syndrome\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001**\u300c\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u6975\u3081\u3066\u5927\u304d\u3044\u300d**\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u5fc3\u75be\u60a3\u3084\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u5168\u304f\u7121\u75c7\u72b6\u3067\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u89aa\u5fa1\u3055\u3093\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u691c\u67fb\u3092\u304d\u3063\u304b\u3051\u306b\u300c\u81ea\u5206\u3082\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u305f\u300d\u3068\u5224\u660e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\uff08Neuropsychiatric\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u8a3a\u65ad\u4f8b\u3067\u3001\u4f55\u3089\u304b\u306e\u767a\u9054\u3084\u884c\u52d5\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u672c\u75be\u60a3\u306f\u300c\u795e\u7d4c\u5b66\u7684\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u5ea7\uff08Neuro-susceptibility locus\uff09\u300d\u306e\u4e00\u3064\u3068\u3057\u3066\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\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\u5b66\u7fd2\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u304d\u3063\u304b\u3051\u3067\u53d7\u8a3a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u77e5\u80fd\u304c\u6b63\u5e38\u7bc4\u56f2\uff08Normal IQ\uff09\u306e\u65b9\u3082\u591a\u6570\u3044\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\u96e3\u3057\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<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7d71\u5408\u5931\u8abf\u75c7\uff08Schizophrenia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u4eba\u671f\u4ee5\u964d\u3001\u7d71\u5408\u5931\u8abf\u75c7\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u4e00\u822c\u96c6\u56e3\u3088\u308a\u3082\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u306e\u4e2d\u3067\u3082\u7279\u306b1q21.1\u308422q11.2\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\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\u6c17\u5206\u306e\u5909\u52d5\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u982d\u90e8\u30fb\u9854\u8c8c\u306e\u7279\u5fb4\uff08Craniofacial\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u5c0f\u982d\u75c7\u300d\u306f\u3001\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u5927\u982d\u75c7\uff09\u3068\u306e\u5bfe\u6bd4\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0450%\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u8457\u3057\u3044\u5c0f\u982d\u75c7\u3068\u3044\u3046\u3088\u308a\u306f\u3001\u6210\u9577\u66f2\u7dda\u306e\u4e0b\u9650\u4ed8\u8fd1\u3001\u3042\u308b\u3044\u306f-2SD\u7a0b\u5ea6\u306e\u300c\u5c0f\u3055\u3081\u306e\u982d\u300d\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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\u8c8c\uff08Dysmorphism\uff09\u306f\u76ee\u7acb\u305f\u306a\u3044\uff08\u975e\u7279\u7570\u7684\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u524d\u982d\u90e8\u304c\u9ad8\u3044\u3001\u307e\u305f\u306f\u5e83\u3044\u3002<\/li>\n\n\n\n<li>\u773c\u7403\u9665\u51f9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u3044\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u304c\u9577\u3044\uff09\u3001\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u5fae\u7d30\u3067\u3042\u308a\u3001\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\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>\u60a3\u8005\u3055\u3093\u306e\u7d0425\u301c30%\u306b\u5fc3\u75be\u60a3\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f<em>GJA5<\/em>\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\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>\u4e3b\u306a\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\uff08Tetralogy of Fallot\uff09<\/li>\n\n\n\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09<\/li>\n\n\n\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09<\/li>\n\n\n\n<li>\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u75c7<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u91cd\u75c7\u5ea6\u306f\u69d8\u3005\u3067\u3001\u81ea\u7136\u9589\u9396\u3059\u308b\u3082\u306e\u304b\u3089\u624b\u8853\u304c\u5fc5\u8981\u306a\u3082\u306e\u307e\u3067\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u773c\u79d1\u7684\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767d\u5185\u969c\uff08Cataracts\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u307e\u305f\u306f\u82e5\u5e74\u6027\u306e\u767d\u5185\u969c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8996\u529b\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u767a\u898b\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u3001\u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u8fd1\u8996\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u9aa8\u683c\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u5168\u4f53\u7684\u306b\u5c0f\u67c4\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u810a\u67f1\u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u3001\u5185\u53cd\u8db3\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u3084\u814e\u5947\u5f62\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\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\u6b20\u5931<\/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>\u306a\u305c\u3053\u306e\u5834\u6240\u3070\u304b\u308a\u304c\u6b20\u5931\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>1q21.1\u9818\u57df\u306b\u306f\u3001DNA\u306e\u4e26\u3073\u65b9\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\u3053\u306e\u305d\u3063\u304f\u308a\u306a\u914d\u5217\u540c\u58eb\u304c\u300c\u9593\u9055\u3063\u305f\u76f8\u624b\u300d\u3068\u30da\u30a2\u3092\u7d44\u3093\u3067\u3057\u307e\u3044\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\uff08\u60c5\u5831\u306e\u4ea4\u63db\uff09\u304c\u8d77\u3053\u308b\u3068\u3001\u30a8\u30e9\u30fc\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u308b \u2192 <strong>\u6b20\u5931\uff08\u672c\u75be\u60a3\uff09<\/strong><\/li>\n\n\n\n<li>\u3082\u3046\u4e00\u65b9\u306e\u67d3\u8272\u4f53\u3067\u306f\u9818\u57df\u304c\u500d\u306b\u306a\u308b \u2192 <strong>\u91cd\u8907\uff081q21.1\u91cd\u8907\u75c7\u5019\u7fa4\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u3068\u53ef\u5909\u8868\u73fe\u6027<\/strong><\/p>\n\n\n\n<p>\u3053\u308c\u304c\u672c\u75be\u60a3\u306e\u907a\u4f1d\u5b66\u7684\u306a\u6700\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5b8c\u5168\u6d78\u900f:<\/strong> \u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u75c5\u6c17\u306b\u306a\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u5168\u304f\u5065\u5eb7\u306a\u4fdd\u56e0\u8005\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53ef\u5909\u8868\u73fe\u6027:<\/strong> \u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u5bb6\u65cf\u9593\u3067\u3082\u3001\u89aa\u306f\u300c\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\u300d\u3067\u3001\u5b50\u306f\u300c\u5fc3\u75be\u60a3\u3068\u81ea\u9589\u75c7\u300d\u3068\u3044\u3063\u305f\u3088\u3046\u306b\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u306a\u305c\u8d77\u3053\u308b\u306e\u304b\uff1f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u30bb\u30ab\u30f3\u30c9\u30d2\u30c3\u30c8\u4eee\u8aac\u300d\u306a\u3069\u304c\u63d0\u5531\u3055\u308c\u3066\u3044\u307e\u3059\u30021q21.1\u306e\u6b20\u5931\u306f\u3001\u8133\u3084\u5fc3\u81d3\u306e\u767a\u9054\u306b\u304a\u3051\u308b\u300c\u5f31\u70b9\uff08\u611f\u53d7\u6027\uff09\u300d\u3092\u4f5c\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u767a\u75c7\u3059\u308b\u3068\u306f\u9650\u3089\u305a\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u5c0f\u3055\u306a\u5909\u7570\u3084\u3001\u74b0\u5883\u8981\u56e0\u306a\u3069\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u521d\u3081\u3066\u75c7\u72b6\u304c\u51fa\u308b\u306e\u3067\u306f\u306a\u3044\u304b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u6b20\u5931\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\u7d0425\u301c50%\u306f\u3001\u7a81\u7136\u5909\u7570\uff08\u89aa\u306f\u6b63\u5e38\uff09\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b8b\u308a\u306e50%\u4ee5\u4e0a\u306f\u3001\u89aa\uff08\u8efd\u75c7\u307e\u305f\u306f\u7121\u75c7\u72b6\uff09\u304b\u3089\u306e\u907a\u4f1d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u305f\u3081\u3001\u5b50\u304c\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3068\u89aa\u3082\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u305f\u3001\u3068\u3044\u3046\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\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>\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u306f\u7279\u5fb4\u304c\u4e4f\u3057\u3044\u305f\u3081\u8a3a\u65ad\u306f\u56f0\u96e3\u3067\u3059\u3002\u767a\u9054\u9045\u6ede\u3084\u5fc3\u75be\u60a3\u3001\u5c0f\u982d\u75c7\u306a\u3069\u306e\u7cbe\u67fb\u904e\u7a0b\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\u5909\u5316\uff08CNV\uff09\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>1.35Mb\u306e\u5178\u578b\u7684\u306a\u6b20\u5931\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u884c\u3063\u305f\u4e0a\u3067\u3001\u4e21\u89aa\u306e\u89e3\u6790\uff08CMA\u307e\u305f\u306fFISH\u6cd5\uff09\u3092\u884c\u3046\u3053\u3068\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u5bb6\u65cf\u5185\u3067\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u306e\u767a\u9054\u3092\u898b\u5b88\u308b\u4e0a\u3067\u91cd\u8981\u306a\u60c5\u5831\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\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\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u3001\u305d\u3057\u3066\u5c06\u6765\u306e\u30ea\u30b9\u30af\u3092\u898b\u636e\u3048\u305f**\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5b9a\u671f\u691c\u8a3a\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u533b\u7642\u7684\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\u5fc5\u305a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u3066\u7d4c\u904e\u89b3\u5bdf\u3084\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767d\u5185\u969c\u3084\u659c\u8996\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u8996\u899a\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u306b\u65e9\u671f\u767a\u898b\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5185\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u6cbb\u7642\u3057\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>\u767a\u9054\u306e\u9045\u308c\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\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>\u5b66\u7fd2\u969c\u5bb3\u3084\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u4f5c\u6210\u3057\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u9069\u5207\u306a\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u652f\u63f4\u3084\u3001\u843d\u3061\u7740\u3051\u308b\u74b0\u5883\u4f5c\u308a\u306a\u3069\u3001ASD\u7279\u6027\u306b\u914d\u616e\u3057\u305f\u95a2\u308f\u308a\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7cbe\u795e\u533b\u5b66\u7684\u30b1\u30a2\uff08\u9577\u671f\u7684\u306a\u8996\u70b9\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>\u601d\u6625\u671f\u4ee5\u964d\u3001\u4e0d\u5b89\u969c\u5bb3\u3084\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3054\u5bb6\u65cf\u3084\u5468\u56f2\u304c\u3053\u306e\u30ea\u30b9\u30af\uff08\u907a\u4f1d\u7684\u7d20\u56e0\uff09\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u300c\u69d8\u5b50\u304c\u304a\u304b\u3057\u3044\u306a\u300d\u3068\u601d\u3063\u305f\u6642\u306b\u65e9\u671f\u306b\u5c02\u9580\u533b\u306b\u76f8\u8ac7\u3057\u3001\u65e9\u671f\u4ecb\u5165\u306b\u3064\u306a\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u904e\u5ea6\u306b\u6050\u308c\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5fc3\u306e\u5065\u5eb7\u306b\u6ce8\u610f\u3092\u6255\u3046\u3053\u3068\u304c\u5927\u5207\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\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u300d\u3068\u77e5\u3063\u305f\u6642\u3001\u7f6a\u60aa\u611f\u3092\u611f\u3058\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u81ea\u7136\u306a\u907a\u4f1d\u5b66\u7684\u73fe\u8c61\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u7121\u75c7\u72b6\u3067\u3042\u308c\u3070\u3001\u5b50\u3069\u3082\u306e\u4e88\u5f8c\u3082\u6bd4\u8f03\u7684\u826f\u597d\u3067\u3042\u308b\u53ef\u80fd\u6027\u3092\u793a\u5506\u3059\u308b\u6750\u6599\u306b\u3082\u306a\u308a\u5f97\u307e\u3059\uff08\u5fc5\u305a\u3057\u3082\u305d\u3046\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u304c\uff09\u3002<\/li>\n\n\n\n<li>\u6b63\u78ba\u306a\u907a\u4f1d\u5b66\u7684\u60c5\u5831\u306b\u57fa\u3065\u304d\u3001\u5bb6\u65cf\u5168\u4f53\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\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 deletion (distal) syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u300c\u4eba\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5168\u304f\u9055\u3046\u300d\u3068\u3044\u3046\u4e0d\u601d\u8b70\u306a\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u5fc3\u81d3\u306e\u75c5\u6c17\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5168\u304f\u6c17\u3065\u304b\u305a\u306b\u5927\u4eba\u306b\u306a\u3063\u3066\u3044\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\u82e6\u624b\u3055\u300d\u306e\u7406\u7531\u3092\u8aac\u660e\u3059\u308b\u3072\u3068\u3064\u3067\u3059\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u672a\u6765\u3092\u3059\u3079\u3066\u6c7a\u5b9a\u3065\u3051\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u5fc3\u81d3\u3084\u76ee\u306a\u3069\u306e\u8eab\u4f53\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u3001\u767a\u9054\u306e\u51f8\u51f9\u306b\u5408\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5c06\u6765\u7684\u306a\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u30b1\u30a2\u306b\u3064\u3044\u3066\u3082\u3001\u3042\u3089\u304b\u3058\u3081\u30ea\u30b9\u30af\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u4f55\u304b\u3042\u3063\u305f\u6642\u306b\u7d20\u65e9\u304f\u5bfe\u5fdc\u3067\u304d\u308b\u300c\u304a\u5b88\u308a\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3060\u3051\u3067\u60a9\u307e\u305a\u3001\u533b\u5e2b\u3084\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u898b\u5b88\u3063\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\u518d\u767a\u6027\u5fae\u7d30\u6b20\u5931\u30fb\u91cd\u8907\u3092\u767a\u898b\u3057\u3001\u5fc3\u75be\u60a3\u3001\u5c0f\u982d\u75c7\u3001\u767a\u9054\u9045\u6ede\u3001\u304a\u3088\u3073\u7cbe\u795e\u75be\u60a3\u3068\u306e\u95a2\u9023\u3092\u5927\u898f\u6a21\u306b\u89e3\u6790\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\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\u6b20\u5931\u304a\u3088\u3073\u91cd\u8907\u3092\u6301\u3064\u591a\u6570\u306e\u60a3\u8005\uff08ASD\u3084\u767a\u9054\u9045\u6ede\u60a3\u8005\uff09\u3092\u8abf\u67fb\u3057\u3001\u8eab\u4f53\u7684\u7279\u5fb4\uff08\u5c0f\u982d\u75c7\u30fb\u5927\u982d\u75c7\u306a\u3069\uff09\u3084\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u6bd4\u8f03\u30fb\u5b9a\u7fa9\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>1q21.1 Microdeletion<\/em>. Initial Posting: February 24, 2011; Last Update: August 20, 2020. <em>Authors: Rosenfeld JA, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u3082\u4fe1\u983c\u3067\u304d\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002TAR\u75c7\u5019\u7fa4\u3068\u306e\u9451\u5225\u306b\u3064\u3044\u3066\u3082\u8a73\u8ff0\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\u60a3\u8005\u306b\u304a\u3051\u308b1q21.1 CNV\u306e\u983b\u5ea6\u3092\u8abf\u67fb\u3057\u3001GJA5\u907a\u4f1d\u5b50\u304c\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5fc3\u8840\u7ba1\u7570\u5e38\u306b\u5f37\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\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 microdeletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3084\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u306e\u6982\u5ff5\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>GJA5<\/em>, <em>BCL9<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\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-16890","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\/16890","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16890\/revisions"}],"predecessor-version":[{"id":16893,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16890\/revisions\/16893"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16890"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}