{"id":16597,"date":"2026-01-19T06:03:24","date_gmt":"2026-01-19T06:03:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16597"},"modified":"2026-01-19T06:04:58","modified_gmt":"2026-01-19T06:04:58","slug":"12q15q21-1-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/12q15q21-1-microdeletion-syndrome\/","title":{"rendered":"12q15q21.1 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>12q15q21.1 microdeletion syndrome<\/strong>\uff0812q15\u2013q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff09 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/289513?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>12q15 deletion syndrome \/ 12q15 microdeletion syndrome<\/strong>\uff0812q15\u6b20\u5931\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u75c7\u5019\u7fa4\uff1a12q15\u2013q21.1\u6b20\u5931\u306e\u4e2d\u6838\u9818\u57df\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li><strong>Distal\/interstitial deletion of 12q15\u2013q21<\/strong>\uff0812q15\u2013q21\u306e\u4ecb\u5728\uff08interstitial\uff09\u6b20\u5931\uff09 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li>\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u672c\u9818\u57df\u6b20\u5931\u306e\u8868\u73fe\u578b\u3092\u8aac\u660e\u3059\u308b\u201c\u4e2d\u6838\u907a\u4f1d\u5b50\u201d\u3068\u3057\u3066 <strong>CNOT2<\/strong> \u304c\u5f37\u304f\u793a\u5506\u3055\u308c\u3001CNOT2\u30cf\u30d7\u30ed\u4e0d\u5168\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u306e\u795e\u7d4c\u767a\u9054\u75c7\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30768759\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/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>\u7b2c12\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0912q15\u301c12q21.1 \u306e\u90e8\u5206\u6b20\u5931\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<br>\u75c7\u4f8b\u306e\u591a\u304f\u306f\u3001<strong>12q15q21.1\u306b\u307e\u305f\u304c\u308b\u6570Mb\u898f\u6a21\u306e\u6b20\u5931<\/strong>\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u307e\u3059\u3002\u4ee3\u8868\u7684\u5831\u544a\u3067\u306f\u3001\u7d042.5 Mb\u524d\u5f8c\u306e\u6b20\u5931\u304c3\u4f8b\u3067\u63d0\u793a\u3055\u308c\u3001\u8907\u6570\u4f8b\u306b\u5171\u901a\u3059\u308b\u91cd\u8907\u6b20\u5931\u9818\u57df\uff08\u5171\u901a\u6b20\u5931\u9818\u57df\uff09\u304c\u62bd\u51fa\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u9818\u57df\u309212q15\u306b\u7d5e\u3063\u305f\u518d\u8a55\u4fa1\u3067\u306f\u3001\u65e2\u5831\u4f8b\u3092\u7d71\u5408\u3057\u3066<strong>CNOT2\u304c\u5171\u901a\u3057\u3066\u6b20\u5931\u3057\u3066\u3044\u308b\u552f\u4e00\u306e\u907a\u4f1d\u5b50<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3001\u795e\u7d4c\u767a\u9054\u8868\u73fe\u578b\u306e\u4e3b\u8981\u56e0\uff08phenocritical gene\uff09\u3068\u3057\u3066\u63d0\u6848\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30768759\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<p>\u5b9f\u81e8\u5e8a\u3067\u306f\u3001\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u30fb\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7bc4\u56f2\u306b\u3088\u308a\u75c7\u72b6\u306e\u5e45\u304c\u51fa\u307e\u3059\uff08\u201c12q15\u201d\u4e2d\u5fc3\u306e\u5c0f\u3055\u3081\u6b20\u5931\u301c\u201c12q15\u2013q21.1\u201d\u306b\u53ca\u3076\u6b20\u5931\u307e\u3067\uff09\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f<strong>\u975e\u5e38\u306b\u7a00<\/strong>\u3067\u3001\u4e00\u822c\u96c6\u56e3\u3067\u306e\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\uff08\u75c7\u4f8b\u5831\u544a\u30fb\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u57fa\u3065\u304f\u6574\u7406\u304c\u4e2d\u5fc3\uff09\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/289513?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GARD\uff08\u7c73\u56fd\uff09\u304a\u3088\u3073Orphanet\u3067\u306f\u3001<strong>12q15q21.1\u306e\u90e8\u5206\u6b20\u5931\u306b\u3088\u308b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4<\/strong>\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3001\u8868\u73fe\u578b\u306f\u201c\u9ad8\u5ea6\u306b\u53ef\u5909\u201d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5831\u544a\u4f8b\u3067\u6b20\u5931\u306fde novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308a\u3001\u5bb6\u65cf\u5185\u907a\u4f1d\u306f\u5c11\u6570\u3067\u3059\u3002\u305f\u3060\u3057\u3001CNOT2\u306e\u6a5f\u80fd\u55aa\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3092\u4e2d\u6838\u3068\u3059\u308b\u5834\u5408\u3001<strong>\u5e38\u67d3\u8272\u4f53\u512a\u6027<\/strong>\u306e\u5f62\u5f0f\u3067\u5bb6\u65cf\u6027\u306b\u898b\u3044\u3060\u3055\u308c\u5f97\u308b\u3053\u3068\u304c\u63d0\u6848\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31145527\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n<\/ul>\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>12q15q21.1 microdeletion syndrome\u306f\u3001<strong>\u795e\u7d4c\u767a\u9054\u30fb\u6210\u9577\u30fb\u5185\u5206\u6ccc\u30fb\u9aa8\u683c<\/strong>\u306a\u3069\u306b\u307e\u305f\u304c\u308b\u75c7\u72b6\u304c\u7d44\u307f\u5408\u308f\u3055\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u5178\u578b\u50cf\u3068\u3057\u3066\u3001GARD\u306f\u300c\u767a\u9054\u9045\u6ede\uff0f\u5b66\u7fd2\u969c\u5bb3\u300d\u300c\u80ce\u5185\u30fb\u51fa\u751f\u5f8c\u306e\u6210\u9577\u9045\u5ef6\u300d\u300c\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3059\u308b\u8efd\u5ea6\u306e\u9854\u8c8c\u5909\u5316\u300d\u306b\u52a0\u3048\u3001\u9f3b\u58f0\uff08nasal speech\uff09\u3068\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08hypothyroidism\uff09\u304c\u95a2\u9023\u3059\u308b\u3068\u8a18\u8f09\u3057\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<br><strong>1) \u795e\u7d4c\u767a\u9054\u30fb\u5b66\u7fd2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08\u904b\u52d5\u30fb\u8a00\u8a9e\u306e\u9045\u308c\uff09<\/strong>\u3001<strong>\u5b66\u7fd2\u306e\u56f0\u96e3<\/strong>\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\uff08\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u304c\u591a\u3044\uff09\u304c\u4e2d\u6838\u75c7\u72b6\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09\u3084\u3001\u4e73\u5e7c\u5150\u671f\u306e\u6442\u98df\u306e\u56f0\u96e3<\/strong>\uff08\u54fa\u4e73\u306e\u96e3\u3057\u3055\u3001\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002CNOT2\u306e\u6b20\u5931\uff08\u3042\u308b\u3044\u306f\u907a\u4f1d\u5b50\u5185\u6b20\u5931\uff09\u3067\u3082\u540c\u69d8\u306e\u81e8\u5e8a\u50cf\u304c\u518d\u73fe\u3055\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31145527\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2) \u8a00\u8a9e\u306e\u7279\u5fb4\uff1a\u9f3b\u58f0\uff08nasal speech\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u9818\u57df\u6b20\u5931\u306e\u201c\u76ee\u7acb\u3061\u3084\u3059\u3044\u6240\u898b\u201d\u3068\u3057\u3066<strong>\u9f3b\u58f0<\/strong>\u304c\u7e70\u308a\u8fd4\u3057\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u30023\u4f8b\u306e\u91cd\u8907\u6b20\u5931\u89e3\u6790\u3067\u3082\u9f3b\u58f0\u304c\u5171\u901a\u6240\u898b\u3068\u3057\u3066\u5f37\u8abf\u3055\u308c\u300112q15\u6b20\u5931\u306e\u518d\u8a55\u4fa1\u3067\u3082\u540c\u69d8\u306e\u6240\u898b\u304c\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3190250\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u9f3b\u58f0\u306f\u3001\u69cb\u97f3\u306e\u5354\u8abf\u3084\u53e3\u84cb\u30fb\u9f3b\u54bd\u8154\u9589\u9396\u6a5f\u80fd\u306e\u554f\u984c\u3001\u795e\u7d4c\u767a\u9054\u306e\u5f71\u97ff\u306a\u3069\u8907\u6570\u8981\u56e0\u304c\u95a2\u4e0e\u3057\u5f97\u308b\u305f\u3081\u3001\u8033\u9f3b\u79d1\u30fb\u8a00\u8a9e\u8074\u899a\u9818\u57df\u306e\u8a55\u4fa1\u304c\u6709\u7528\u3067\u3059\uff08\u75c7\u4f8b\u3054\u3068\u306e\u8a55\u4fa1\u304c\u91cd\u8981\uff09\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u6210\u9577\uff1a\u80ce\u5185\u767a\u80b2\u4e0d\u5168\u30fb\u4f4e\u8eab\u9577\u50be\u5411<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ce\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\u3084\u51fa\u751f\u5f8c\u306e\u6210\u9577\u9045\u5ef6<\/strong>\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4) \u5185\u5206\u6ccc\uff1a\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u3067\u306f<strong>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/strong>\u304c\u95a2\u9023\u6240\u898b\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u3066\u304a\u308a\u3001\u9f3b\u58f0\u3068\u4e26\u3076\u201c\u5171\u901a\u306e\u624b\u304c\u304b\u308a\u201d\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5) \u9854\u8c8c\u30fb\u5f62\u614b\uff08\u8efd\u5ea6\u3067\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306e\u9854\u8c8c\u7279\u5fb4\uff08dysmorphic facies\uff09\u304c\u5831\u544a\u3055\u308c\u307e\u3059\u304c\u3001\u91cd\u75c7\u5ea6\u306f\u5e45\u5e83\u304f\u3001<strong>\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316<\/strong>\u3057\u5f97\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6) \u9aa8\u683c\u30fb\u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>12q15\u6b20\u5931\uff08CNOT2\u3092\u542b\u3080\uff09\u3067\u306f\u3001\u5831\u544a\u4e0a<strong>\u9aa8\u683c\u6240\u898b\u304c\u53ef\u5909<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3001\u500b\u3005\u3067\u95a2\u7bc0\u30fb\u810a\u67f1\u306a\u3069\u306e\u8a55\u4fa1\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31145527\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u304c12q21\u5074\u3078\u5e83\u304c\u308b\u75c7\u4f8b\u3067\u306f\u3001\u3088\u308a\u591a\u5f69\u306a\u5408\u4f75\u75c7\u304c\u5165\u308a\u5f97\u307e\u3059\uff08\u6b20\u5931\u30b5\u30a4\u30ba\u30fb\u907a\u4f1d\u5b50\u5185\u5bb9\u306b\u4f9d\u5b58\uff09\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u539f\u56e0\u306f\u3001<strong>12q15\u301c12q21.1\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong>\u306b\u3088\u308b\u3001\u5f53\u8a72\u9818\u57df\u5185\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff081\u30b3\u30d4\u30fc\u6b20\u5931\uff09\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>3\u4f8b\u306e\u91cd\u8907\u6b20\u5931\u89e3\u6790\u3067\u306f\u300112q15q21.1\u306e\u6b20\u5931\uff08\u7d042.5 Mb\u898f\u6a21\uff09\u304c\u793a\u3055\u308c\u3001\u5171\u901a\u6b20\u5931\u9818\u57df\u304c\u62bd\u51fa\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li>12q15 microdeletion\u306e\u518d\u8a55\u4fa1\u304a\u3088\u3073\u907a\u4f1d\u5b50\u5185\u6b20\u5931\u306e\u5831\u544a\u304b\u3089\u3001<strong>CNOT2\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u8868\u73fe\u578b\u3092\u898f\u5b9a\u3059\u308b\u4e2d\u6838<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u63d0\u6848\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u767a\u9054\u9045\u6ede\u3001\u5b66\u7fd2\u56f0\u96e3\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u6442\u98df\u554f\u984c\u3001\u9f3b\u58f0\u3001\u9854\u8c8c\u7279\u5fb4\u3001\u9aa8\u683c\u6240\u898b\u306a\u3069\uff09\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30768759\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u6b20\u5931\u306f\u591a\u304f\u304c<strong>de novo<\/strong>\u3067\u767a\u751f\u3057\u307e\u3059\u304c\u3001\u5bb6\u65cf\u6027\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u89aa\u306e\u691c\u67fb\u3092\u542b\u3081\u305f\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u8a3a\u65ad\uff08\u30b5\u30a4\u30c8\u63b2\u8f09\u5411\u3051\u88dc\u8db3\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff08CMA\/array CGH\uff09\u304c\u3001\u5fae\u5c0f\u6b20\u5931\u306e\u540c\u5b9a\u306b\u6709\u7528\u3067\u3001\u672c\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li>\u75c7\u72b6\u304b\u3089\u7591\u308f\u308c\u305f\u5834\u5408\u3001\u767a\u9054\u8a55\u4fa1\uff08\u5fc3\u7406\u691c\u67fb\uff09\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u691c\u67fb\u3001\u8033\u9f3b\u79d1\uff08\u9f3b\u58f0\u30fb\u69cb\u97f3\uff09\u8a55\u4fa1\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8133\u753b\u50cf\u3084\u6574\u5f62\u5916\u79d1\u8a55\u4fa1\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\uff08\u75c7\u4f8b\u306b\u5fdc\u3058\u3066\uff09\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p><strong>\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f<strong>\u652f\u6301\u7642\u6cd5\u30fb\u65e9\u671f\u4ecb\u5165<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p><strong>1) \u767a\u9054\u30fb\u5b66\u7fd2\u3078\u306e\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e<strong>\u65e9\u671f\u7642\u80b2<\/strong>\uff08\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\uff09<\/li>\n\n\n\n<li>\u5b66\u9f62\u671f\u4ee5\u964d\u306e<strong>\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4<\/strong>\uff08\u5b66\u7fd2\u306e\u56f0\u96e3\u306b\u5fdc\u3058\u305f\u5408\u7406\u7684\u914d\u616e\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u6d3b\u7528\uff09<\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u306e\u8ab2\u984c\u304c\u3042\u308c\u3070\u5fc3\u7406\u652f\u63f4\u30fb\u767a\u9054\u5916\u6765\u3067\u306e\u30d5\u30a9\u30ed\u30fc<br>\uff08\u672c\u75c7\u5019\u7fa4\u306f\u8868\u73fe\u578b\u304c\u53ef\u5909\u306e\u305f\u3081\u3001\u672c\u4eba\u306e\u5f37\u307f\u3068\u56f0\u308a\u3054\u3068\u306b\u5408\u308f\u305b\u305f\u8a2d\u8a08\u304c\u91cd\u8981\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2) \u9f3b\u58f0\uff08nasal speech\uff09\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08\u69cb\u97f3\u8a13\u7df4\uff09<\/strong><\/li>\n\n\n\n<li>\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\u306a\u3069\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8033\u9f3b\u79d1\u3067\u7cbe\u67fb\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88dc\u52a9\u5177\u30fb\u5916\u79d1\u7684\u9078\u629e\u80a2\u3092\u542b\u3081\u305f\u691c\u8a0e<br>\uff08\u9f3b\u58f0\u304c\u201c\u5171\u901a\u6240\u898b\u201d\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u308b\u305f\u3081\u3001\u65e9\u671f\u8a55\u4fa1\u304c\u6709\u7528\u3067\u3059\uff09 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3190250\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u691c\u67fb\u3067\u7532\u72b6\u817a\u6a5f\u80fd\u3092\u8a55\u4fa1\u3057\u3001\u8a3a\u65ad\u3055\u308c\u308c\u3070<strong>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5<\/strong>\u3092\u884c\u3044\u307e\u3059\uff08\u4e00\u822c\u7684\u306a\u5185\u5206\u6ccc\u8a3a\u7642\u306b\u6e96\u62e0\uff09\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4) \u6210\u9577\u30fb\u6804\u990a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6442\u98df\u306e\u554f\u984c\u304c\u3042\u308c\u3070\u6804\u990a\u6307\u5c0e\u3001\u6442\u98df\u30ea\u30cf\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5c0f\u5150\u6d88\u5316\u5668\u30fb\u6804\u990a\u30c1\u30fc\u30e0\u3068\u9023\u643a<\/li>\n\n\n\n<li>\u6210\u9577\u66f2\u7dda\u3092\u7d99\u7d9a\u30d5\u30a9\u30ed\u30fc\u3057\u3001\u539f\u56e0\uff08\u6804\u990a\u3001\u5185\u5206\u6ccc\u306a\u3069\uff09\u3092\u8a55\u4fa1 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5) \u9aa8\u683c\u30fb\u305d\u306e\u4ed6\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u683c\u6240\u898b\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u6574\u5f62\u5916\u79d1\u3067\u8a55\u4fa1\u3057\u3001\u7406\u5b66\u7642\u6cd5\u3084\u88c5\u5177\u306a\u3069\u3092\u691c\u8a0e<\/li>\n\n\n\n<li>\u6b20\u5931\u30b5\u30a4\u30ba\u304c\u5927\u304d\u3044\u5834\u5408\u306f\u3001\u95a2\u4e0e\u3057\u5f97\u308b\u81d3\u5668\u7cfb\u3092\u75c7\u72b6\u306b\u5fdc\u3058\u3066\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31145527\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6) \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>de novo\u304c\u591a\u3044\u4e00\u65b9\u3001\u5bb6\u65cf\u6027\u306e\u53ef\u80fd\u6027\u8a55\u4fa1\u3082\u542b\u3081\u3001<strong>\u518d\u767a\u30ea\u30b9\u30af<\/strong>\u3084\u5c06\u6765\u306e\u5bb6\u65cf\u8a08\u753b\u306e\u76f8\u8ac7\u306e\u305f\u3081\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>12q15q21.1 microdeletion syndrome<\/strong> \u306f\u300112\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e <strong>12q15\u301c12q21.1<\/strong> \u306b\u751f\u3058\u308b\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u304d\u308f\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u81e8\u5e8a\u50cf\u306f\u53ef\u5909\u3067\u3059\u304c\u3001\u5178\u578b\u7684\u306b\u306f <strong>\u767a\u9054\u9045\u6ede\uff0f\u5b66\u7fd2\u969c\u5bb3<\/strong>\u3001<strong>\u80ce\u5185\u304a\u3088\u3073\u51fa\u751f\u5f8c\u306e\u6210\u9577\u9045\u5ef6<\/strong>\u3001<strong>\u8efd\u5ea6\u306e\u9854\u8c8c\u5909\u5316<\/strong>\u306b\u52a0\u3048\u3001\u6bd4\u8f03\u7684\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3057\u3066 <strong>\u9f3b\u58f0\uff08nasal speech\uff09<\/strong> \u3068 <strong>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/strong> \u304c\u95a2\u9023\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<br>\u75c5\u56e0\u306f\u6b20\u5931\u9818\u57df\u5185\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3067\u3001\u8fd1\u5e74\u306f <strong>CNOT2<\/strong> \u304c\u795e\u7d4c\u767a\u9054\u8868\u73fe\u578b\u306e\u4e2d\u6838\u907a\u4f1d\u5b50\u3068\u3057\u3066\u5f37\u304f\u652f\u6301\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30768759\/?utm_source=chatgpt.com\">PubMed<\/a>)<br>\u6cbb\u7642\u306f\u6839\u6cbb\u7642\u6cd5\u3067\u306f\u306a\u304f\u3001<strong>\u7642\u80b2\uff08PT\/OT\/ST\uff09\u30fb\u6559\u80b2\u652f\u63f4<\/strong>\u3001\u9f3b\u58f0\u3078\u306e\u5c02\u9580\u7684\u4ecb\u5165\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3078\u306e\u5185\u5206\u6ccc\u6cbb\u7642\u3001\u6804\u990a\u30fb\u6210\u9577\u30d5\u30a9\u30ed\u30fc\u306a\u3069\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Orphanet\uff1a12q15q21.1 microdeletion syndrome (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/289513?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>NIH GARD\uff1a12q15q21.1 microdeletion syndrome\uff08\u75c7\u72b6\u6982\u8981\u3001\u9f3b\u58f0\u30fb\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306e\u95a2\u9023\u306a\u3069\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>Vergult S, et al. <em>Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions<\/em>\uff0812q15q21.1\u91cd\u8907\u6b20\u5931\u4f8b\u306e\u5831\u544a\uff09 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg201167?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li>Uehara T, et al. <em>CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome<\/em>\uff08CNOT2\u306e\u4e2d\u6838\u907a\u4f1d\u5b50\u6027\uff09 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30768759\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>PMID:31145527 <em>A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome<\/em>\uff08CNOT2\u30cf\u30d7\u30ed\u4e0d\u5168\u3067\u8868\u73fe\u578b\u518d\u73fe\uff09 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31145527\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>NCBI MedGen\uff1a12q15q21.1 microdeletion syndrome\uff08\u75be\u60a3\u6982\u5ff5\u306e\u8981\u7d04\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/1383455?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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