{"id":16532,"date":"2026-01-19T02:23:19","date_gmt":"2026-01-19T02:23:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16532"},"modified":"2026-01-20T06:24:33","modified_gmt":"2026-01-20T06:24:33","slug":"10q22-3-q23-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/10q22-3-q23-2-deletion-syndrome\/","title":{"rendered":"10q22.3-q23.2 deletion 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>10q22-q23\u6b20\u5931\u75c7\u5019\u7fa4\uff0810q22-q23 deletion syndrome\uff09<\/li>\n\n\n\n<li>10\u756a\u67d3\u8272\u4f53\u9577\u8155\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\uff08Partial monosomy 10q\uff09<\/li>\n\n\n\n<li>10q23\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0810q23 microdeletion syndrome\uff09<br>\u203b\u6b20\u5931\u7bc4\u56f2\u304c\u91cd\u8907\u3059\u308b\u5834\u5408\u3001\u3053\u306e\u3088\u3046\u306b\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>10\u756a\u67d3\u8272\u4f53 \u9577\u8155 q22.3-q23.2<\/strong><br>10\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u8155\uff09\u306e\u4e2d\u9593\u90e8\u306b\u4f4d\u7f6e\u3059\u308b\u5fae\u7d30\u6b20\u5931\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u9aa8\u3084\u8edf\u9aa8\u306e\u5f62\u6210\u3001\u7d30\u80de\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u308f\u308bBMPR1A\u907a\u4f1d\u5b50\u3084\u3001\u795e\u7d4c\u7cfb\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308bNRG3\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u5e0c\u5c11\uff08Rare Disease\uff09<\/strong><br>\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u3067\u3082\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u304b\u3089\u767e\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308b\u3001\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002\u6027\u5225\u306b\u3088\u308b\u767a\u75c7\u983b\u5ea6\u306e\u660e\u78ba\u306a\u5dee\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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>\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c<br>\n\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u9f3b\u6839\u90e8\u304c\u5e83\u304f\u5e73\u5766\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u8033\u4ecb\u4f4e\u4f4d\uff09\u307e\u305f\u306f\u5909\u5f62\u3001\u8584\u3044\u4e0a\u53e3\u5507\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u306e\u9045\u308c\u30fb\u77e5\u7684\u969c\u5bb3<br>\n\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u3044\uff08\u8868\u51fa\u8a00\u8a9e\u306e\u9045\u5ef6\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u591a\u52d5\u3084\u6ce8\u610f\u6b20\u5982\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3<br>\n\u7d04\u534a\u6570\u4ee5\u4e0a\u306e\u75c7\u4f8b\u3067\u5fc3\u81d3\u306e\u69cb\u9020\u7684\u306a\u7570\u5e38\u3092\u5408\u4f75\u3057\u307e\u3059\u3002\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u306a\u3069\u304c\u4ee3\u8868\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6<br>\n\u624b\u8db3\u306e\u5c0f\u5947\u5f62\uff08\u8db3\u306e\u89aa\u6307\u3068\u4eba\u5dee\u3057\u6307\u306e\u9593\u304c\u5e83\u3044\u306a\u3069\uff09\u3001\u4f4e\u8eab\u9577\u3001\u659c\u8996\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931<\/strong><br>10\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u7279\u5b9a\u9818\u57df\uff0810q22.3-q23.2\uff09\u306b\u304a\u3044\u3066\u3001\u907a\u4f1d\u60c5\u5831\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u90e8\u5206\u306f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u306b\u3088\u308a\u767a\u751f\u3057\u307e\u3059\u3002\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u306f\u7570\u5e38\u304c\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u5f62\u6210\u3055\u308c\u308b\u904e\u7a0b\u3067\u5076\u7136\u306b\u6b20\u5931\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u3053\u306e\u9818\u57df\u306fDNA\u306e\u69cb\u9020\u4e0a\u3001\u8907\u88fd\u30df\u30b9\u304c\u8d77\u304d\u3084\u3059\u3044\u7279\u5fb4\uff08\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u95a2\u4fc2\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\uff09<br>\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306a\u3069\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u3001\u904b\u52d5\u9762\u3084\u8a00\u8a9e\u9762\u306e\u767a\u9054\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\n<\/li>\n\n\n\n<li>\u5fc3\u75be\u60a3\u306e\u6cbb\u7642<br>\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3092\u884c\u3044\u3001\u5fc3\u81d3\u306e\u6b20\u640d\u5b54\u306e\u72b6\u614b\u306b\u3088\u3063\u3066\u306f\u624b\u8853\u3084\u85ac\u7269\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6d88\u5316\u5668\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<br>BMPR1A\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u306f\u3001\u82e5\u5e74\u6027\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u306e\u767a\u75c7\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u8ca7\u8840\u306e\u6709\u7121\u306e\u78ba\u8a8d\u3084\u3001\u533b\u5e2b\u306e\u5224\u65ad\u306b\u57fa\u3065\u3044\u305f\u5b9a\u671f\u7684\u306a\u6d88\u5316\u7ba1\u5185\u8996\u93e1\u691c\u67fb\u306b\u3088\u308b\u30dd\u30ea\u30fc\u30d7\u306e\u76e3\u8996\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u5065\u8a3a<br>\u773c\u79d1\u3001\u8074\u899a\u3001\u6210\u9577\uff08\u8eab\u9577\u30fb\u4f53\u91cd\uff09\u306e\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\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>Van Bon, B. W., et al. (2011).<\/strong> &#8220;The phenotype of the 10q22.3q23.2 deletion syndrome.&#8221; <em>European Journal of Human Genetics<\/em>, 19, 1030\u20131038.<\/li>\n\n\n\n<li><strong>DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources).<\/strong> Entries referring to 10q22.3 and 10q23 deletions.<\/li>\n\n\n\n<li><strong>Alliman, S., et al. (2010).<\/strong> &#8220;Clinical description of a novel 10q22.3q23.2 deletion syndrome.&#8221; <em>American Journal of Medical Genetics Part A<\/em>.<\/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-16532","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\/16532","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":9,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16532\/revisions"}],"predecessor-version":[{"id":16853,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16532\/revisions\/16853"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16532"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}