{"id":16585,"date":"2026-01-19T05:47:20","date_gmt":"2026-01-19T05:47:20","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16585"},"modified":"2026-01-20T02:32:56","modified_gmt":"2026-01-20T02:32:56","slug":"12p13-33-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/12p13-33-microdeletion-syndrome\/","title":{"rendered":"12p13.33 microdeletion 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><strong>12p13.33 microdeletion syndrome<\/strong>\uff0812\u756a\u67d3\u8272\u4f53\u77ed\u8155p13.33\u90e8\u4f4d\u306e\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li><strong>Del(12)(p13.33)<\/strong>\uff0812p13.33\u6b20\u5931\uff09<\/li>\n\n\n\n<li><strong>Distal monosomy 12p<\/strong>\uff0812p\u9060\u4f4d\u5358\u4e00\u4f53\u75c7\uff09 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/280325?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u540d\u306f\u3001\u67d3\u8272\u4f5312\u756a\u77ed\u8155\u7aef\u306e <strong>12p13.33 \u9818\u57df\u306e1\u90e8\u5206\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u306b\u3088\u3063\u3066\u751f\u3058\u308b\u4e00\u9023\u306e\u75c7\u72b6\u7fa4\u3092\u6307\u3057\u307e\u3059\u300212p13.33\u306e\u5fae\u5c0f\u6b20\u5931\u306f\u6975\u3081\u3066\u307e\u308c\u3067\u3042\u308a\u3001\u6b20\u5931\u306e\u4f4d\u7f6e\u3084\u30b5\u30a4\u30ba\u306b\u3088\u308a\u81e8\u5e8a\u50cf\u306b\u5dee\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u5171\u901a\u3059\u308b\u91cd\u8981\u306a\u7279\u5fb4\u3092\u6301\u3064\u75be\u60a3\u3068\u3057\u3066\u672c\u9805\u3067\u89e3\u8aac\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/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>\u30d2\u30c8\u7b2c12\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.33 \u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931<\/strong> \u304c\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>12p13.33 \u306f\u67d3\u8272\u4f5312\u306e\u6700\u3082\u5148\u7aef\u306b\u8fd1\u3044\u90e8\u5206\uff08\u30b5\u30d6\u30c6\u30ed\u30e1\u30ea\u30fc\u9818\u57df\uff09\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u9818\u57df\u3067\u3059\u3002\u6b20\u5931\u306f <strong>2.3 Mb \u7a0b\u5ea6\u301c\u6570 Mb<\/strong> \u307e\u3067\u306e\u5927\u304d\u3055\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6b20\u5931\u3055\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u3084\u7a2e\u985e\u304c\u75c7\u72b6\u306e\u5dee\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u306f <strong>\u7aef\u90e8\u5fae\u5c0f\u6b20\u5931\uff08terminal microdeletion\uff09<\/strong> \u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u30b5\u30d6\u30c6\u30ed\u30e1\u30ea\u30fc\u3084\u305d\u306e\u8fd1\u508d\u306b\u5b58\u5728\u3059\u308b\u8907\u6570\u306e\u5019\u88dc\u907a\u4f1d\u5b50\uff08\u4f8b\uff1a<strong>ERC1\u3001CACNA1C\u3001KDM5A\u3001WNK1<\/strong> \u306a\u3069\uff09\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u795e\u7d4c\u767a\u9054\u30fb\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u3084\u7cbe\u795e\u72b6\u614b\u306e\u5236\u5fa1\u306b\u95a2\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u6b20\u5931\u304c\u767a\u73fe\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8303811\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>12p13.33 microdeletion syndrome \u306f\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38<\/strong>\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306a\u75ab\u5b66\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75c7\u4f8b\u5831\u544a\u306f <strong>\u672c\u5f53\u306b\u6570\u4f8b\u3057\u304b\u5b58\u5728\u3057\u306a\u3044\u30ec\u30d9\u30eb<\/strong> \u3067\u3001\u5831\u544a\u4f8b\u306f 4\u4f8b\u7a0b\u5ea6\u3068\u306e\u6587\u732e\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u5927\u898f\u6a21\u306a\u96c6\u56e3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3082 <strong>&lt;1\/1,000,000\uff08100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\uff09<\/strong> \u3068\u63a8\u5b9a\u3055\u308c\u308b\u7a00\u5c11\u75be\u60a3\u3067\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/280325?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u6975\u3081\u3066\u4f8b\u304c\u5c11\u306a\u3044\u305f\u3081\u4e00\u822c\u51fa\u751f\u983b\u5ea6\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\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>12p13.33 microdeletion syndrome\uff08\u4ee5\u4e0b 12p13.33 \u6b20\u5931\uff09\u3067\u306f\u3001\u6b20\u5931\u9818\u57df\u304c\u591a\u304f\u306e\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\u3092\u542b\u3080\u305f\u3081\u3001<strong>\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u75c7\u72b6<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5831\u544a\u4f8b\u6570\u306f\u5c11\u306a\u3044\u3082\u306e\u306e\u3001\u8907\u6570\u306e\u75c7\u4f8b\u5831\u544a\u304b\u3089\u5171\u901a\u3059\u308b\u81e8\u5e8a\u30d1\u30bf\u30fc\u30f3\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u77e5\u7684\u6a5f\u80fd\u306e\u9045\u308c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08global developmental delay\uff09<\/strong> \u304c\u591a\u304f\u306e\u5831\u544a\u4f8b\u3067\u307f\u3089\u308c\u307e\u3059\u3002\u8a00\u8a9e\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u7372\u5f97\u304c\u5e74\u9f62\u76f8\u5fdc\u3088\u308a\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong>\uff1a\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u80fd\u767a\u9054\u306e\u5236\u9650\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u8a00\u8a9e\u767a\u9054\u969c\u5bb3<\/strong>\uff08\u4f8b\uff1a\u5e7c\u5150\u671f\u5931\u884c\u6027\u767a\u8a71\uff0f childhood apraxia of speech\uff09\u306e\u30b1\u30fc\u30b9\u3082\u5831\u544a\u4f8b\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24780630\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3055\u3089\u306b\u6ce8\u76ee\u3055\u308c\u308b\u306e\u306f\u3001\u540c\u4e00\u6b20\u5931\u3067\u3082\u767a\u73fe\u306e\u7a0b\u5ea6\u306b\u5e45\u304c\u3042\u308a\u3001\u8efd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3067\u6e08\u3080\u4f8b\u304b\u3089\u3001\u3088\u308a\u6df1\u523b\u306a\u77e5\u80fd\u767a\u9054\u969c\u5bb3\u30fb\u8868\u73fe\u306e\u9045\u308c\u304c\u751f\u3058\u308b\u4f8b\u307e\u3067\u5e45\u5e83\u304f\u307f\u3089\u308c\u308b\u70b9\u3067\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8303811\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>12p13.33 \u9060\u4f4d\u6b20\u5931\u306f <strong>\u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u3042\u308b<\/strong> \u3068\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u69d8\u884c\u52d5<\/strong><\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u6027\uff08ADHD\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4e0d\u5b89\u50be\u5411\u30fb\u60c5\u7dd2\u4e0d\u5b89\u5b9a<\/strong><\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75c5\u30b9\u30da\u30af\u30c8\u30eb\u969c\u5bb3\uff08\u4f8b\uff1a\u7d71\u5408\u5931\u8abf\u75c7\uff09<\/strong> \u306a\u3069\u3001\u7cbe\u795e\u75be\u60a3\u95a2\u9023\u306e\u75c7\u72b6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8303811\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u7279\u306b\u3001\u7d42\u7aef\u6b20\u5931\u3092\u542b\u3080 12p13.33\u2013p13.32 \u306e\u5e83\u3081\u306e\u6b20\u5931\u304c\u5831\u544a\u3055\u308c\u305f\u5bb6\u65cf\u3067\u306f\u3001<strong>\u3066\u3093\u304b\u3093\uff08epilepsy\uff09\u30fb\u77e5\u7684\u969c\u5bb3\u30fb\u7d71\u5408\u5931\u8abf\u75c7\uff08schizophrenia\uff09<\/strong> \u3068\u3044\u3063\u305f\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3068\u3044\u3046\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8303811\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u5358\u72ec\u306e\u75be\u60a3\u3068\u3044\u3046\u3088\u308a\u3001\u6b20\u5931\u306b\u3088\u308b\u795e\u7d4c\u767a\u9054\u7d4c\u8def\u306e\u969c\u5bb3\u304c\u6319\u52d5\u30fb\u7cbe\u795e\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>3. \u8eab\u4f53\u30fb\u5f62\u614b\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>12p13.33 microdeletion \u3067\u306f\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3082\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u7279\u7570\u7684\u306b\u3053\u308c\u3060\u3051\u3067\u78ba\u5b9a\u8a3a\u65ad\u3067\u304d\u308b\u50cf\u306f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002\u591a\u304f\u5831\u544a\u3055\u308c\u308b\u3082\u306e\u3068\u3057\u3066\u306f\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5fae\u306a\u9854\u8c8c\u7570\u5e38\uff08mild facial dysmorphism\uff09<\/strong>\uff1a\u975e\u7279\u7570\u7684\u306a\u9854\u306e\u5f62\u614b\u5909\u5316<\/li>\n\n\n\n<li><strong>\u4f4e\u7b4b\u7dca\u5f35\uff08hypotonia\uff09<\/strong> \u3084 <strong>\u95a2\u7bc0\u306e\u904e\u53ef\u52d5\u6027\uff08joint laxity\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30d8\u30eb\u30cb\u30a2\uff08\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u7b49\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u982d\u75c7\uff08microcephaly\uff09<\/strong> \u306a\u3069\u304c\u4ed8\u968f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/280325?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u4ed6\u306e\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3082\u898b\u3089\u308c\u308b\u975e\u7279\u7570\u7684\u6240\u898b\u3067\u3042\u308a\u3001\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u53ef\u80fd\u6027\u306e\u3042\u308b\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u5831\u544a\u4f8b\u3067\u306f\u3001\u6b20\u5931\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u304c\u591a\u69d8\u306a\u6a5f\u80fd\u3092\u6301\u3064\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u3092\u95a2\u9023\u3065\u3051\u308b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff08epilepsy\uff09<\/strong>\uff1a\u7d42\u7aef\u6b20\u5931\u306b\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8303811\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u56f0\u96e3\u30fb\u5b66\u7fd2\u56f0\u96e3<\/strong>\uff1a\u5b66\u6821\u751f\u6d3b\u3084\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u9069\u5fdc\u306b\u9045\u308c\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u305f\u3060\u3057\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u308b\u305f\u3081\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u307f\u3089\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002 \u81e8\u5e8a\u50cf\u306f\u500b\u4f53\u5dee\u304c\u5927\u304d\u304f\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u907a\u4f1d\u5b50\u7684\u80cc\u666f\u306e\u9055\u3044\u306b\u3088\u308a\u5927\u304d\u304f\u5909\u52d5\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>12p13.33 microdeletion syndrome \u306e\u539f\u56e0\u306f\u3001\u67d3\u8272\u4f53 12\u756a\u77ed\u8155\uff08p\uff0913.33 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308a\u3001\u6b20\u5931\u9818\u57df\u5185\u306b\u5b58\u5728\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c <strong>1\u30b3\u30d4\u30fc\u6b20\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168; haploinsufficiency\uff09<\/strong> \u3068\u306a\u308a\u3001\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u767a\u73fe\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u308b\u3053\u3068\u3067\u75c7\u72b6\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/280325?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<p>12p13.33 \u306b\u306f\u3001ERC1\uff08ELKS\/RAB6 interacting\/CAST family member 1\uff09\u306a\u3069 <strong>\u795e\u7d4c\u767a\u9054\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50<\/strong> \u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u6b20\u5931\u3055\u308c\u308b\u3053\u3068\u306b\u3088\u308a\u767a\u9054\u30fb\u8a00\u8a9e\u30fb\u884c\u52d5\u9762\u306e\u7570\u5e38\u304c\u751f\u3058\u3084\u3059\u304f\u306a\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/distal_monosomy_12p?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5e83\u3081\u306e terminal deletion \u306b\u95a2\u3057\u3066\u306f <strong>CACNA1C, KDM5A, WNK1<\/strong> \u306a\u3069\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u304c\u5f71\u97ff\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u9818\u57df\u306e\u75c7\u72b6\u3078\u306e\u5bc4\u4e0e\u306b\u3064\u3044\u3066\u306f\u4eca\u5f8c\u306e\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8303811\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u306f\u591a\u304f\u306e\u5834\u5408 <strong>de novo\uff08\u65b0\u751f\u5909\u7570\uff09<\/strong> \u3067\u3001\u4e21\u89aa\u306b\u540c\u3058\u6b20\u5931\u306f\u306a\u304f\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u518d\u767a\u30ea\u30b9\u30af\u306f\u5168\u30b2\u30ce\u30e0\u691c\u67fb\u3068\u5bb6\u65cf\u69cb\u6210\u3092\u500b\u5225\u306b\u8a55\u4fa1\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/280325?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u7ba1\u7406\u30fb\u652f\u63f4\uff09<\/strong><\/h2>\n\n\n\n<p><strong>12p13.33 microdeletion syndrome \u306b\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong><strong><br><\/strong>\u6cbb\u7642\u3068\u7ba1\u7406\u306f <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09\u3068\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4\u30fb\u6559\u80b2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u3078\u306e\u4ecb\u5165<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong>\uff1a\u904b\u52d5\u30fb\u59ff\u52e2\u30d0\u30e9\u30f3\u30b9\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u6280\u80fd\u306e\u5411\u4e0a\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u7279\u6b8a\u6559\u80b2<\/strong>\uff1a\u5b66\u7fd2\u9762\u3067\u306e\u500b\u5225\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u7b56\u5b9a<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u767a\u9054\u652f\u63f4\u306f\u3001\u6a5f\u80fd\u5411\u4e0a\u3068\u751f\u6d3b\u306e\u8cea\u306e\u6539\u5584\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5\u30fb\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u6ce8\u610f\u6b20\u5982\u3001\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3001\u884c\u52d5\u554f\u984c\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u306e\u8a55\u4fa1\u30fb\u652f\u63f4<\/strong>\uff1a\u7d71\u5408\u5931\u8abf\u75c7\u69d8\u75c7\u72b6\u3084\u4e0d\u5b89\u969c\u5bb3\u304c\u7591\u308f\u308c\u308b\u5834\u5408<\/li>\n<\/ul>\n\n\n\n<p><strong>\u533b\u7642\u7684\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408<\/strong>\uff1a\u795e\u7d4c\u5185\u79d1\u30fb\u5c0f\u5150\u79d1\u3067\u306e\u85ac\u7269\u7642\u6cd5\u30fb\u767a\u4f5c\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u982d\u75c7\u3084\u9aa8\u683c\u7570\u5e38<\/strong>\uff1a\u6574\u5f62\u5916\u79d1\u7684\u8a55\u4fa1\u30fb\u6cbb\u7642\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u8033\u9f3b\u79d1\u30fb\u773c\u79d1\u8a55\u4fa1<\/strong>\uff1a\u611f\u899a\u5668\u6a5f\u80fd\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<p>\u591a\u69d8\u306a\u75c7\u72b6\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u5c0f\u5150\u79d1\u3001\u795e\u7d4c\u79d1\u3001\u767a\u9054\u533b\u7642\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1<\/strong> \u306a\u3069\u8907\u6570\u5c02\u9580\u533b\u306b\u3088\u308b\u9023\u643a\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\u30fb\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9032\u6357\u3001\u8eab\u4f53\u7684\u767a\u80b2\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u5b9a\u671f\u8a55\u4fa1<\/li>\n\n\n\n<li>\u5b66\u9f62\u671f\u4ee5\u964d\u306e\u884c\u52d5\u9762\u30fb\u5b66\u7fd2\u9069\u5fdc\u306e\u7d4c\u904e\u89b3\u5bdf<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u8d77\u6e90\u3084\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1<\/li>\n\n\n\n<li>\u5bb6\u65cf\u8a08\u753b\u30fb\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u8a55\u4fa1\u306e\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>12p13.33 microdeletion syndrome<\/strong> \u306f\u300112\u756a\u67d3\u8272\u4f53\u77ed\u8155\u7aef\u306e 12p13.33 \u9818\u57df\u306e<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u4e3b\u306a\u81e8\u5e8a\u50cf\u3068\u3057\u3066 <strong>\u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3\u30fb\u8a00\u8a9e\u767a\u9054\u969c\u5bb3\u30fb\u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7570\u5e38\uff08ASD, ADHD, \u7d71\u5408\u5931\u8abf\u75c7\u7b49\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5fae\u5c0f\u982d\u75c7\u3084\u8efd\u5fae\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u4ed8\u968f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\u9818\u57df\u5185\u306e\u8907\u6570\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u795e\u7d4c\u767a\u9054\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u4f8b\u6570\u304c\u5c11\u306a\u304f\u3001\u81e8\u5e8a\u50cf\u306f\u500b\u4f53\u5dee\u304c\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f<strong>\u6839\u6cbb\u7642\u6cd5\u304c\u306a\u304f\u3001\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u30fb\u767a\u9054\u652f\u63f4\u30fb\u5fc3\u7406\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u5305\u62ec\u7684\u30b1\u30a2<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u500b\u5225\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u8a08\u753b\u3092\u7acb\u3066\u308b\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3084\u6a5f\u80fd\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Orphanet: <strong>Distal deletion 12p<\/strong> \u2014 clinical summary and features. (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/280325?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>Malacards: <strong>Distal Monosomy 12p<\/strong> \u2014 phenotype summary including developmental delay and behavior abnormalities. (<a href=\"https:\/\/www.malacards.org\/card\/distal_monosomy_12p?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li>Thevenon J, et al. <strong>12p13.33 microdeletion including ELKS\/ERC1<\/strong> \u2014 literature review and phenotype delineation. (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3522191\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>Fanizza I, et al. <strong>Genotype-phenotype relationship in 12p13.33 microdeletion<\/strong> \u2014 clinical report with ID, speech delay, microcephaly. (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24780630\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>Han JY &amp; Park J. <strong>Variable phenotypes of epilepsy, ID, schizophrenia<\/strong> caused by 12p13.33\u2013p13.32 microdeletion (case report). (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1001?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ol>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n","protected":false},"featured_media":0,"template":"","class_list":["post-16585","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\/16585","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16585\/revisions"}],"predecessor-version":[{"id":16768,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16585\/revisions\/16768"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16585"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}