{"id":16901,"date":"2026-01-21T02:03:15","date_gmt":"2026-01-21T02:03:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16901"},"modified":"2026-01-21T02:03:15","modified_gmt":"2026-01-21T02:03:15","slug":"1q21-1-duplication-proximal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1q21-1-duplication-proximal-syndrome\/","title":{"rendered":"1q21.1 duplication (proximal) 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\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1q21.1\u8fd1\u4f4d\u5fae\u7d30\u91cd\u8907\uff08Proximal 1q21.1 microduplication\uff09<\/li>\n\n\n\n<li>1q21.1\u91cd\u8907\uff08TAR\u9818\u57df\uff09\uff081q21.1 duplication, TAR region\uff09<\/li>\n\n\n\n<li>1q21.1\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u8fd1\u4f4d\u91cd\u8907\uff09\uff081q21.1 copy number variant, proximal duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aTAR\u75c7\u5019\u7fa4\uff08Thrombocytopenia-Absent Radius syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u3068\u540c\u3058\u9818\u57df\u304c\u300c\u6b20\u5931\u300d\u3059\u308b\u3068TAR\u75c7\u5019\u7fa4\u306e\u767a\u75c7\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\u306f\u300c\u91cd\u8907\u300d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a1q21.1\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\u578b\uff09\uff081q21.1 duplication (distal) syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u901a\u5e38\u300c1q21.1\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3068\u8a00\u3046\u3068\u3001\u75c7\u72b6\u304c\u3088\u308a\u9855\u8457\u306a\u300c\u9060\u4f4d\u578b\u300d\u3092\u6307\u3059\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u53b3\u5bc6\u306a\u533a\u5225\u304c\u5fc5\u8981\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>1\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921.1\u9818\u57df\uff08\u8fd1\u4f4d\u9818\u57df\uff1aBP2-BP3\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\u306e\u3046\u3061\u3001**\u300c\u8fd1\u4f4d\uff08Proximal\uff09\u300d**\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u533a\u9593\uff08\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c82\u304b\u3089\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c83\u306e\u9593\uff09\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u300cTAR\u9818\u57df\u300d\u3011<\/p>\n\n\n\n<p>1\u756a\u67d3\u8272\u4f53\u306e1q21.1\u9818\u57df\u306f\u3001\u69cb\u9020\u7684\u306b\u975e\u5e38\u306b\u8907\u96d1\u3067\u3001\u985e\u4f3c\u3057\u305f\u914d\u5217\uff08LCR\uff09\u304c\u7e70\u308a\u8fd4\u3057\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\uff08\u6b20\u5931\u3084\u91cd\u8907\uff09\u304c\u8d77\u3053\u308a\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\u306f\u3001\u3055\u3089\u306b2\u3064\u306e\u4e3b\u8981\u306a\u533a\u9593\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u4f4d\u9818\u57df\uff08BP2-BP3\uff09\uff1a\u672c\u75be\u60a3\u306e\u5bfe\u8c61<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d04200kb\u301c500kb\u7a0b\u5ea6\u306e\u6bd4\u8f03\u7684\u5c0f\u3055\u306a\u9818\u57df\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u304c\u300c\u6b20\u5931\u300d\u3059\u308b\u3068\u3001\u8840\u6db2\u3084\u9aa8\u306e\u96e3\u75c5\u3067\u3042\u308b\u300cTAR\u75c7\u5019\u7fa4\u300d\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u306a\u308a\u307e\u3059\u3002\u672c\u75be\u60a3\u306f\u305d\u306e\u9006\u306e\u300c\u91cd\u8907\u300d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9060\u4f4d\u9818\u57df\uff08BP3-BP4\uff09\uff1a\u5225\u306e\u75be\u60a3<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d041.35Mb\u306e\u5927\u304d\u306a\u9818\u57df\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u3053\u304c\u91cd\u8907\u3059\u308b\u3068\u300c\u5927\u982d\u75c7\u300d\u3084\u300c\u7d71\u5408\u5931\u8abf\u75c7\u30ea\u30b9\u30af\u300d\u3092\u4f34\u3046\u3001\u3044\u308f\u3086\u308b\u300c1q21.1\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\u578b\uff09\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u8fd1\u4f4d\u9818\u57df\uff08BP2-BP3\uff09\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\u3067\u5f71\u97ff\u304c\u51fa\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u305f\u3060\u3057\u3001\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u306e\u5f71\u97ff\u306f\u6b20\u5931\u307b\u3069\u5927\u304d\u304f\u306a\u3044\u5834\u5408\u304c\u591a\u3044\u3067\u3059\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>RBM8A (RNA Binding Motif Protein 8A):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u5185\u3067\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fcRNA\uff08mRNA\uff09\u306e\u54c1\u8cea\u7ba1\u7406\u3084\u8f38\u9001\u3092\u884c\u3046\u300c\u30a8\u30af\u30bd\u30f3\u30b8\u30e3\u30f3\u30af\u30b7\u30e7\u30f3\u8907\u5408\u4f53\uff08EJC\uff09\u300d\u306e\u69cb\u6210\u6210\u5206\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\uff08\u91cf\u304c\u6e1b\u308b\uff09\u306e\u5834\u5408\u306e\u5f71\u97ff\u306f\u751a\u5927\uff08\u8840\u5c0f\u677f\u6e1b\u5c11\u306a\u3069\uff09\u3067\u3059\u304c\u3001\u91cd\u8907\uff08\u91cf\u304c\u5897\u3048\u308b\uff09\u306e\u5834\u5408\u306e\u751f\u7269\u5b66\u7684\u5f71\u97ff\u306b\u3064\u3044\u3066\u306f\u3001\u73fe\u5728\u3082\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PEX11B (Peroxisomal Biogenesis Factor 11 Beta):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u5185\u306e\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ITGA10 (Integrin Subunit Alpha 10):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8edf\u9aa8\u306a\u3069\u306e\u7d50\u5408\u7d44\u7e54\u306b\u95a2\u4e0e\u3057\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\u304c\u3001\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u5927\u898f\u6a21\u306a\u30b2\u30ce\u30e0\u89e3\u6790\u306e\u7814\u7a76\u30c7\u30fc\u30bf\u306b\u3088\u308b\u3068\u3001\u4e00\u822c\u96c6\u56e3\uff08\u5065\u5e38\u8005\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u7fa4\uff09\u306e\u4e2d\u306b\u3082\u3001\u3053\u306e\u300c1q21.1\u8fd1\u4f4d\u91cd\u8907\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u4eba\u304c\u4e00\u5b9a\u6570\uff08\u6570\u5343\u4eba\u306b1\u4eba\u7a0b\u5ea6\uff09\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u73fe\u5834\u3067\u306f\u3001\u767a\u9054\u9045\u6ede\u306a\u3069\u306e\u691c\u67fb\u3092\u884c\u3063\u305f\u969b\u306b\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u5168\u304f\u5225\u306e\u7406\u7531\u3067\u691c\u67fb\u3092\u53d7\u3051\u305f\u969b\u3084\u3001\u89aa\u306e\u691c\u67fb\u3067\u300c\u5076\u7136\u898b\u3064\u304b\u308b\u300d\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u6f5c\u5728\u7684\u306a\u983b\u5ea6\u306f\u5e0c\u5c11\u75be\u60a3\u306e\u4e2d\u3067\u306f\u9ad8\u3044\u90e8\u985e\u306b\u5165\u308b\u3068\u8003\u3048\u3089\u308c\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 (proximal) syndrome\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u4e00\u8a00\u3067\u8868\u3059\u3068\u3001**\u300c\u8868\u73fe\u578b\u304c\u975e\u5e38\u306b\u591a\u69d8\u3067\u3001\u7121\u75c7\u72b6\uff08\u826f\u6027\uff09\u306e\u3053\u3068\u3082\u591a\u3044\u300d**\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u9060\u4f4d\u578b\uff08Distal\uff09\u300d\u306e\u91cd\u8907\u304c\u5927\u982d\u75c7\u3084\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af\u3068\u6bd4\u8f03\u7684\u5f37\u304f\u95a2\u9023\u3059\u308b\u306e\u306b\u5bfe\u3057\u3001\u300c\u8fd1\u4f4d\u578b\uff08Proximal\uff09\u300d\u306e\u5f71\u97ff\u306f\u3088\u308a\u30de\u30a4\u30eb\u30c9\u3001\u3042\u308b\u3044\u306f\u4e0d\u660e\u78ba\u306a\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6700\u3082\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u660e\u3089\u304b\u306a\u533b\u5b66\u7684\u554f\u984c\u3092\u62b1\u3048\u305a\u3001\u5065\u5eb7\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u4eba\uff08\u4e3b\u306b\u89aa\u5fa1\u3055\u3093\uff09\u304c\u591a\u6570\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3092\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u691c\u67fb\u3067\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u300c\u75c5\u6c17\u300d\u3068\u3057\u3066\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>2. \u5831\u544a\u3055\u308c\u3066\u3044\u308b\u95a2\u9023\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u51fa\u308b\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u304c\u300c\u91cd\u8907\u3060\u3051\u304c\u539f\u56e0\u300d\u306a\u306e\u304b\u3001\u305d\u308c\u3068\u3082\u300c\u4ed6\u306e\u907a\u4f1d\u7684\u8981\u56e0\u3084\u74b0\u5883\u8981\u56e0\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u305f\u7d50\u679c\u300d\u306a\u306e\u304b\u306f\u3001\u500b\u3005\u306e\u30b1\u30fc\u30b9\u3067\u614e\u91cd\u306b\u5224\u65ad\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u904b\u52d5\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u969c\u5bb3:<\/strong> \u77e5\u7684\u969c\u5bb3\u306f\u306a\u3044\u304b\u8efd\u5ea6\uff08\u5883\u754c\u57df\uff09\u3067\u3001\u7279\u5b9a\u306e\u5b66\u7fd2\u5206\u91ce\u306b\u82e6\u624b\u3055\u304c\u3042\u308b\u5834\u5408\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u4e0d\u5b89\u969c\u5bb3\u306a\u3069\u306e\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u3001\u4e00\u822c\u96c6\u56e3\u3088\u308a\u3084\u3084\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u9060\u4f4d\u91cd\u8907\u306b\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u300c\u7d71\u5408\u5931\u8abf\u75c7\u300d\u3068\u306e\u5f37\u3044\u95a2\u9023\u306f\u3001\u8fd1\u4f4d\u91cd\u8907\u3067\u306f\u660e\u78ba\u306b\u306f\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u7684\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002\u8a73\u7d30\u306a\u89b3\u5bdf\u3067\u3001\u773c\u9593\u958b\u96e2\u3084\u5e83\u3044\u984d\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u56f2:<\/strong> \u9060\u4f4d\u91cd\u8907\u306e\u3088\u3046\u306a\u9855\u8457\u306a\u5927\u982d\u75c7\u306f\u4e00\u822c\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u982d\u56f2\u306f\u6b63\u5e38\u7bc4\u56f2\u3001\u3042\u308b\u3044\u306f\u591a\u69d8\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7\uff08\u983b\u5ea6\u306f\u4f4e\u3044\u30fb\u95a2\u9023\u6027\u4e0d\u660e\u78ba\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u3001\u5fc3\u75be\u60a3\u3084\u9aa8\u683c\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5076\u7136\u306e\u5408\u4f75\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u5426\u5b9a\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. TAR\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u4fc2<\/strong><\/p>\n\n\n\n<p>\u91cd\u8981: \u672c\u75be\u60a3\uff08\u91cd\u8907\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u4eba\u304c\u3001TAR\u75c7\u5019\u7fa4\uff08\u8155\u306e\u9aa8\u306e\u6b20\u640d\u306a\u3069\uff09\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u306f\u3001\u57fa\u672c\u7684\u306b\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>TAR\u75c7\u5019\u7fa4\u306f\u3001\u3053\u306e\u9818\u57df\u304c\u300c\u6b20\u5931\uff08RBM8A\u304c\u6e1b\u308b\uff09\u300d\u3057\u305f\u5834\u5408\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u3060\u304b\u3089\u3067\u3059\u3002\u91cd\u8907\uff08RBM8A\u304c\u5897\u3048\u308b\uff09\u3067\u306f\u3001\u9aa8\u3084\u8840\u6db2\u306e\u5f62\u6210\u7570\u5e38\u306f\u901a\u5e38\u8d77\u3053\u308a\u307e\u305b\u3093\u3002<\/p>\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\u8fd1\u4f4d\uff081q21.1 BP2-BP3\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>1q21.1\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u300c\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u300d\u304c\u3001BP2\u3068BP3\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>\u3064\u307e\u308a\u30011q21.1\u8fd1\u4f4d\u6b20\u5931\uff08TAR\u75c7\u5019\u7fa4\u306e\u7d20\u56e0\uff09\u304c\u767a\u751f\u3059\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u300c\u526f\u7523\u7269\u300d\u3068\u3057\u3066\u3001\u3053\u306e\u91cd\u8907\u3082\u767a\u751f\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\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<p>\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u904e\u5270\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u3089\u308c\u307e\u3059\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u8fd1\u4f4d\u9818\u57df\u306b\u542b\u307e\u308c\u308bRBM8A\u306a\u3069\u306e\u907a\u4f1d\u5b50\u306f\u3001\u904e\u5270\u306b\u306a\u3063\u3066\u3082\u7d30\u80de\u6a5f\u80fd\u3078\u306e\u60aa\u5f71\u97ff\u304c\u5c11\u306a\u3044\u304b\u3001\u3042\u308b\u3044\u306f\u751f\u4f53\u304c\u3046\u307e\u304f\u8abf\u7bc0\u3057\u3066\u9069\u5fdc\u3067\u304d\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u7121\u75c7\u72b6\u306e\u4eba\u304c\u591a\u3044\u7406\u7531\u306e\u4e00\u3064\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u3067\u3059\u3002<\/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>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09\u306e\u983b\u5ea6\u304c\u6975\u3081\u3066\u9ad8\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\uff08\u8fd1\u4f4d\u91cd\u8907\uff09\u306f\u3001\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u3067\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d**\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u75c7\u72b6\u304c\u306a\u3044\u305f\u3081\u3001\u5b50\u3069\u3082\u304c\u691c\u67fb\u3092\u53d7\u3051\u308b\u307e\u3067\u6c17\u3065\u304b\u308c\u3066\u3044\u306a\u304b\u3063\u305f\u3001\u3068\u3044\u3046\u30d1\u30bf\u30fc\u30f3\u304c\u5178\u578b\u7684\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>\u81e8\u5e8a\u75c7\u72b6\uff08\u5916\u898b\u3084\u7279\u5b9a\u306e\u75c7\u72b6\uff09\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u3084ASD\u306a\u3069\u306e\u7cbe\u67fb\u904e\u7a0b\u3067\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u3092\u884c\u3044\u3001\u300c\u5076\u7136\u898b\u3064\u304b\u308b\u300d\u3042\u308b\u3044\u306f\u300c\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u308b\u300d\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b2\u30ce\u30e0\u5168\u4f53\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u8abf\u3079\u308b<strong>\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>1q21.1\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u4f4d\u7f6e\u304c\u300c\u8fd1\u4f4d\uff08BP2-BP3\uff09\u300d\u306a\u306e\u304b\u300c\u9060\u4f4d\uff08BP3-BP4\uff09\u300d\u306a\u306e\u304b\u3092\u6b63\u78ba\u306b\u533a\u5225\u3057\u307e\u3059\u3002\u3053\u306e\u533a\u5225\u306f\u4e88\u5f8c\u4e88\u6e2c\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u3053\u306e\u91cd\u8907\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>\u3082\u3057\u89aa\uff08\u7279\u306b\u5065\u5eb7\u306a\u89aa\uff09\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u305d\u306e\u91cd\u8907\u306e\u75c5\u539f\u6027\u306f\u4f4e\u3044\uff08\u826f\u6027\u3001\u307e\u305f\u306f\u75c7\u72b6\u304c\u51fa\u306b\u304f\u3044\uff09\u3068\u5224\u65ad\u3059\u308b\u6750\u6599\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u8efd\u6e1b\u3057\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u4e0a\u3067\u975e\u5e38\u306b\u6709\u76ca\u306a\u60c5\u5831\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>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u7121\u75c7\u72b6\u3067\u3042\u308c\u3070\u6cbb\u7642\u306e\u5fc5\u8981\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306e\u307f\u3001\u305d\u308c\u306b\u5fdc\u3058\u305f\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u75c7\u72b6\u306b\u5fdc\u3058\u305f\u652f\u63f4\uff08\u5bfe\u75c7\u7642\u6cd5\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u5b66\u7fd2\u306e\u82e6\u624b\u3055\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u7642\u80b2\uff08ST\/OT\uff09\u3084\u5b66\u7fd2\u652f\u63f4\u306a\u3069\u3001\u4e00\u822c\u7684\u306a\u767a\u9054\u969c\u5bb3\u306b\u5bfe\u3059\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u3068\u540c\u69d8\u306e\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u7279\u6027\u3084\u4e0d\u5b89\u306e\u5f37\u3055\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u672c\u4eba\u304c\u5b89\u5fc3\u3057\u3066\u904e\u3054\u305b\u308b\u74b0\u5883\u4f5c\u308a\u3084\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u306a\u533b\u5b66\u7684\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u3084\u8840\u6db2\u691c\u67fb\u306a\u3069\uff09\u306f\u3001\u75c7\u72b6\u304c\u306a\u3044\u9650\u308a\u901a\u5e38\u306f\u63a8\u5968\u3055\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u4e00\u822c\u7684\u306a\u5b9a\u671f\u5065\u8a3a\uff08\u4e73\u5e7c\u5150\u5065\u8a3a\u306a\u3069\uff09\u3067\u3001\u6210\u9577\u3084\u767a\u9054\u3092\u78ba\u8a8d\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u5341\u5206\u306a\u5834\u5408\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u300c\u30b1\u30a2\u300d\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u8a3a\u65ad\u7d50\u679c\u306e\u89e3\u91c8\uff1a\u300c\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u304b\u3089\u3068\u3044\u3063\u3066\u3001\u5168\u3066\u306e\u554f\u984c\u306e\u539f\u56e0\u3068\u306f\u9650\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u9650\u754c\uff08VOUS\uff1a\u81e8\u5e8a\u7684\u610f\u7fa9\u4e0d\u660e\u306a\u5909\u7570\u3068\u3057\u3066\u306e\u5074\u9762\uff09\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7f6a\u60aa\u611f\u306e\u8efd\u6e1b:<\/strong> \u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3068\u5206\u304b\u3063\u305f\u6642\u3001\u89aa\u5fa1\u3055\u3093\u306f\u8cac\u4efb\u3092\u611f\u3058\u304c\u3061\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u81ea\u7136\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u4eba\u304c\u4f55\u3089\u304b\u306e\u907a\u4f1d\u7684\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u5065\u5eb7\u306a\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305f\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u304a\u5b50\u3055\u3093\u3082\u540c\u69d8\u306b\u5065\u5eb7\u306b\u80b2\u3064\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u3044\u3046\u300c\u826f\u3044\u30cb\u30e5\u30fc\u30b9\u300d\u3068\u3057\u3066\u6349\u3048\u308b\u3053\u3068\u3082\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5bfe\u5fdc\u306b\u3064\u3044\u3066\u3082\u76f8\u8ac7\u3057\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 (proximal) syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u3054\u304f\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\u8a3a\u65ad\u540d\u3092\u805e\u304f\u3068\u9a5a\u304b\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5b9f\u306f\u3053\u306e\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5168\u304f\u75c7\u72b6\u304c\u306a\u304f\u3001\u5065\u5eb7\u306b\u793e\u4f1a\u3067\u6d3b\u8e8d\u3057\u3066\u3044\u308b\u4eba\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3057\u3001\u304a\u5b50\u3055\u3093\u306b\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3084\u3001\u3053\u3060\u308f\u308a\u306e\u5f37\u3055\u306a\u3069\u304c\u3042\u308a\u3001\u691c\u67fb\u306e\u7d50\u679c\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u305d\u308c\u304c\u5168\u3066\u306e\u539f\u56e0\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u3042\u304f\u307e\u3067\u300c\u305d\u306e\u5b50\u306e\u500b\u6027\u3092\u5f62\u4f5c\u308b\u8981\u7d20\u306e\u3072\u3068\u3064\u300d\u304c\u898b\u3064\u304b\u3063\u305f\u3001\u3068\u8003\u3048\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u300c\u9060\u4f4d\u578b\u300d\u3068\u547c\u3070\u308c\u308b\u5225\u306e\u30bf\u30a4\u30d7\u3068\u306f\u7570\u306a\u308a\u3001\u91cd\u3044\u75c5\u6c17\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u907a\u4f1d\u5b50\u306e\u691c\u67fb\u7d50\u679c\u305d\u306e\u3082\u306e\u3088\u308a\u3082\u3001\u4eca\u76ee\u306e\u524d\u306b\u3044\u308b\u304a\u5b50\u3055\u3093\u306e\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3084\u300c\u56f0\u3063\u3066\u3044\u308b\u3053\u3068\u300d\u306b\u76ee\u3092\u5411\u3051\u3001\u5fc5\u8981\u306a\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\u3084\u74b0\u5883\u8abf\u6574\uff09\u3092\u884c\u3063\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3060\u3051\u3067\u60a9\u307e\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3084\u533b\u5e2b\u3068\u3088\u304f\u8a71\u3057\u5408\u3044\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3063\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\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\uff08\u8fd1\u4f4d\u30fb\u9060\u4f4d\u542b\u3080\uff09\u3092\u767a\u898b\u3057\u3001\u81e8\u5e8a\u75c7\u72b6\u3068\u306e\u95a2\u9023\u3092\u5927\u898f\u6a21\u306b\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>Rosenfeld, J.A., et al.<\/strong> (2012). <em>Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8fd1\u4f4d1q21.1\u91cd\u8907\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u3001\u9060\u4f4d\u578b\u3068\u306f\u7570\u306a\u308b\u8868\u73fe\u578b\uff08\u3042\u308b\u3044\u306f\u7121\u75c7\u72b6\u304c\u591a\u3044\u3053\u3068\uff09\u3084\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u306b\u3064\u3044\u3066\u691c\u8a3c\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Brunetti-Pierri, N., et al.<\/strong> (2008). <em>Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u9060\u4f4d\u91cd\u8907\u304c\u5927\u982d\u75c7\u306b\u95a2\u9023\u3059\u308b\u306e\u306b\u5bfe\u3057\u3001\u8fd1\u4f4d\u91cd\u8907\u306e\u5f71\u97ff\u306f\u7570\u306a\u308b\u3053\u3068\u3092\u793a\u5506\u3059\u308b\u6bd4\u8f03\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>D&#8217;Angelo, C.S., et al.<\/strong> (2016). <em>1q21.1 microduplication: a rare copy number variant in patients with intellectual disability and\/or congenital anomalies?<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u77e5\u7684\u969c\u5bb3\u60a3\u8005\u306b\u304a\u3051\u308b1q21.1\u91cd\u8907\u306e\u983b\u5ea6\u3068\u81e8\u5e8a\u7684\u610f\u7fa9\u3092\u691c\u8a0e\u3057\u3001\u5bb6\u65cf\u6027\u907a\u4f1d\u306e\u591a\u3055\u3084\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u3092\u5831\u544a\u3057\u305f\u8ad6\u6587\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\u8fd1\u4f4d\u578b\u3068\u9060\u4f4d\u578b\u306e\u9055\u3044\u3001\u75c7\u72b6\u306e\u5e45\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>RBM8A<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bRBM8A\u907a\u4f1d\u5b50\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08\u91cd\u8907\u306b\u3088\u308b\u75c5\u539f\u6027\uff09\u306b\u95a2\u3059\u308b\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002\u73fe\u6642\u70b9\u3067\u306f\u91cd\u8907\u306b\u3088\u308b\u91cd\u7be4\u306a\u75c5\u539f\u6027\u306e\u8a3c\u62e0\u306f\u9650\u5b9a\u7684\u3068\u3055\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16901","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\/16901","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\/16901\/revisions"}],"predecessor-version":[{"id":16903,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16901\/revisions\/16903"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16901"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}