{"id":16489,"date":"2026-01-15T07:11:01","date_gmt":"2026-01-15T07:11:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16489"},"modified":"2026-01-20T06:24:58","modified_gmt":"2026-01-20T06:24:58","slug":"10p11-21-p12-31-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/10p11-21-p12-31-microdeletion-syndrome\/","title":{"rendered":"10p11.21-p12.31 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>10p11-p12\u6b20\u5931\u75c7\u5019\u7fa4\uff0810p11-p12 deletion syndrome\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc10p\uff08Partial monosomy 10p\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4 2\u578b\uff08DiGeorge syndrome 2\uff09\u203b\u6b20\u5931\u9818\u57df\u304c10p13-14\u306b\u8fd1\u3044\u5834\u5408\u3001\u985e\u4f3c\u3057\u305f\u8868\u73fe\u578b\u3092\u3068\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\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<ul class=\"wp-block-list\">\n<li><strong>10\u756a\u67d3\u8272\u4f53 \u77ed\u8155 p11.21-p12.31<\/strong><br>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u91cd\u8981\u907a\u4f1d\u5b50\u306b\u306f\u3001\u5fc3\u81d3\u767a\u751f\u3084\u514d\u75ab\u7cfb\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u542b\u307e\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u300122q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u307b\u3069\u660e\u78ba\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u306f\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<em>GATA3<\/em>\uff0810p14\uff09\u3084<em>CUBN<\/em>\uff0810p13\uff09\u306a\u3069\u306e\u8fd1\u508d\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3092\u53d7\u3051\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\uff08Very rare\uff09\u3002<\/li>\n\n\n\n<li>\u4e16\u754c\u3067\u6570\u5341\u4f8b\u301c\u767e\u4f8b\u7a0b\u5ea6\u306e\u5831\u544a\u306b\u3068\u3069\u307e\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u6b63\u78ba\u306a\u7d71\u8a08\u30c7\u30fc\u30bf\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/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>10p11-p12\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u9818\u57df\u306e\u5927\u304d\u3055\u306b\u3088\u308a\u75c7\u72b6\u304c\u591a\u69d8\u3067\u3059\u304c\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u300222q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u3068\u8868\u73fe\u578b\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\uff1a<\/strong><br>\u5e83\u3044\u984d\u3001\u77ed\u3044\u773c\u77bc\u88c2\u3001\u8033\u4ecb\u4f4e\u4f4d\u3001\u53e3\u84cb\u88c2\u307e\u305f\u306f\u53e3\u84cb\u5e06\u54bd\u982d\u9589\u9396\u4e0d\u5168\uff08\u9f3b\u58f0\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u8840\u7ba1\u7cfb\u7570\u5e38\uff1a<\/strong><br>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5927\u52d5\u8108\u5f13\u96e2\u65ad\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u30fb\u5185\u5206\u6ccc\u7570\u5e38\uff1a<\/strong><br>\u80f8\u817a\u4f4e\u5f62\u6210\u306b\u3088\u308bT\u7d30\u80de\u6a5f\u80fd\u4e0d\u5168\uff08\u514d\u75ab\u4f4e\u4e0b\uff09\u3002<br>\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306b\u3088\u308b\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff08\u3051\u3044\u308c\u3093\u7b49\u306e\u539f\u56e0\uff09\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u30fb\u795e\u7d4c\uff1a<\/strong><br>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u8efd\u5ea6\u301c\u4e2d\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3002<br>\u96e3\u8074\uff08\u611f\u97f3\u6027\u307e\u305f\u306f\u4f1d\u97f3\u6027\uff09\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\uff1a<\/strong><br>\u5c3f\u8def\u5947\u5f62\uff08\u6c34\u814e\u75c7\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\uff1a<\/strong><br>10\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff08p11.21-p12.31\uff09\u306e\u907a\u4f1d\u7269\u8cea\u306e\u6b20\u5931\u3002<\/li>\n\n\n\n<li><strong>\u767a\u751f\u6a5f\u5e8f\uff1a<\/strong><br>\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u3067\u767a\u751f\u3057\u307e\u3059\u3002<br>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u306b\u7531\u6765\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u624b\u8853\uff1a<\/strong><br>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5916\u79d1\u7684\u4fee\u5fa9\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u30fb\u514d\u75ab\u7ba1\u7406\uff1a<\/strong><br>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u5bfe\u3057\u3066\u30ab\u30eb\u30b7\u30a6\u30e0\u3084\u30d3\u30bf\u30df\u30f3D\u306e\u6295\u4e0e\u3002<br>\u514d\u75ab\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u3001\u611f\u67d3\u4e88\u9632\u3001\u751f\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u5236\u9650\u306a\u3069\u306e\u7ba1\u7406\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u80f8\u817a\u79fb\u690d\u306a\u3069\u3092\u691c\u8a0e\uff08\u6975\u3081\u3066\u7a00\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5f62\u6210\u5916\u79d1\u30fb\u8033\u9f3b\u79d1\u7684\u5bfe\u5fdc\uff1a<\/strong><br>\u53e3\u84cb\u88c2\u306e\u624b\u8853\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u3002<br>\u96e3\u8074\u306b\u5bfe\u3059\u308b\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u7642\u80b2\uff1a<\/strong><br>\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3059\u308b\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong><br>Entry: Chromosome 10p deletion syndrome (\u95a2\u9023: #146255 DIGEORGE SYNDROME 2; DGS2)<\/li>\n\n\n\n<li><strong>GeneReviews (NCBI)<\/strong><br>Chromosome 10p Deletions (General overview of 10p deletions)<\/li>\n\n\n\n<li><strong>PubMed \/ Medical Literature<\/strong><br>Yatsenko, S. A., et al. (2004). &#8220;10p13\/14 deletion syndrome.&#8221; (10p11-12\u9818\u57df\u306f\u8fd1\u63a5\u3057\u3066\u304a\u308a\u3001\u81e8\u5e8a\u50cf\u304c\u91cd\u8907\u3059\u308b\u305f\u3081\u53c2\u7167\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044)<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong><br>&#8220;10p deletions&#8221; Guide.<\/li>\n<\/ol>\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-16489","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\/16489","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":14,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16489\/revisions"}],"predecessor-version":[{"id":16854,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16489\/revisions\/16854"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16489"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}