{"id":16540,"date":"2026-01-19T02:33:50","date_gmt":"2026-01-19T02:33:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16540"},"modified":"2026-01-20T06:24:10","modified_gmt":"2026-01-20T06:24:10","slug":"10q22-3-q23-2-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/10q22-3-q23-2-duplication-syndrome\/","title":{"rendered":"10q22.3-q23.2 duplication 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\u91cd\u8907\u75c7\u5019\u7fa4\uff0810q22-q23 duplication syndrome\uff09<\/li>\n\n\n\n<li>10\u756a\u67d3\u8272\u4f53\u9577\u8155\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff08Partial trisomy 10q\uff09<\/li>\n\n\n\n<li>10q22.3-q23.2\u5fae\u7d30\u91cd\u8907\uff0810q22.3-q23.2 microduplication\uff09<\/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\u4e2d\u9593\u90e8\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u7269\u8cea\u304c\u3001\u901a\u5e38\u3088\u308a\u591a\u304f\uff083\u30b3\u30d4\u30fc\uff09\u5b58\u5728\u3059\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u300c\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCRs\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u8907\u96d1\u306a\u69cb\u9020\u306b\u631f\u307e\u308c\u3066\u304a\u308a\u3001DNA\u306e\u8907\u88fd\u306e\u969b\u306b\u91cd\u8907\u3084\u6b20\u5931\u304c\u8d77\u304d\u3084\u3059\u3044\u4e0d\u5b89\u5b9a\u306a\u9818\u57df\u3067\u3059\u3002\u91cd\u8907\u7bc4\u56f2\u306b\u306fNGR3\u3001BMPR1A\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u307e\u3059\u304c\u3001\u96a3\u63a5\u3059\u308bPTEN\u907a\u4f1d\u5b50\uff08\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50\uff09\u306f\u901a\u5e38\u542b\u307e\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u203b\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u5e83\u304c\u308b\u3068\u542b\u307e\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\uff09\u3002<br><\/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>\u4e16\u754c\u7684\u306a\u5831\u544a\u6570\u306f\u5c11\u306a\u304f\u3001\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306b\u3001\u5fae\u7d30\u91cd\u8907\u306f\u5fae\u7d30\u6b20\u5931\u3088\u308a\u3082\u75c7\u72b6\u304c\u8efd\u5fae\u3067\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u898b\u904e\u3054\u3055\u308c\u3066\u3044\u308b\uff08\u672a\u8a3a\u65ad\u306e\uff09\u30b1\u30fc\u30b9\u304c\u6f5c\u5728\u7684\u306b\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><br>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u975e\u5e38\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u793a\u3059\u4f8b\u304b\u3089\u3001\u5b66\u7fd2\u969c\u5bb3\u7a0b\u5ea6\u306e\u8efd\u5fae\u306a\u4f8b\u3001\u3042\u308b\u3044\u306f\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u3092\u307b\u3068\u3093\u3069\u6301\u305f\u306a\u3044\u4f8b\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c<br>\u591a\u304f\u306e\u75c7\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff08\u8a00\u8449\u3084\u904b\u52d5\u306e\u9045\u308c\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c<br>\u9854\u3064\u304d\u306e\u7279\u5fb4\u306f\u300c\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u307b\u3069\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u540a\u308a\u76ee\uff08\u773c\u77bc\u88c2\u659c\u4e0a\uff09<\/li>\n\n\n\n<li>\u7709\u6bdb\u304c\u8584\u3044\u3001\u307e\u305f\u306f\u5f13\u72b6<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3001\u9f3b\u5148\u304c\u4e38\u3044\uff08\u56e3\u5b50\u9f3b\uff09<\/li>\n\n\n\n<li>\u4e0a\u5507\u304c\u8584\u3044<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u795e\u7d4c\u30fb\u884c\u52d5\u9762\u306e\u7279\u5fb4<br>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u203b\u5bfe\u7167\u7684\u306b\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3084PTEN\u7570\u5e38\u3067\u306f\u5927\u982d\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u624b\u6307\u3084\u8db3\u6307\u306e\u8efd\u5fae\u306a\u5909\u5f62\uff08\u6307\u304c\u9577\u3044\u3001\u66f2\u304c\u3063\u3066\u3044\u308b\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u5408\u4f75\u7387\u306f\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u308b\u3068\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4e00\u90e8\u3067\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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\u91cd\u8907<\/strong><br>10\u756a\u67d3\u8272\u4f53\u9577\u8155\uff08q22.3-q23.2\uff09\u306e\u4e00\u90e8\u5206\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u751f\u6a5f\u5e8f\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304b\u3089\u306e\u907a\u4f1d\uff1a\u7121\u75c7\u72b6\u307e\u305f\u306f\u8efd\u5fae\u306a\u75c7\u72b6\u3092\u6301\u3064\u89aa\u304b\u3089\u91cd\u8907\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b\u30b1\u30fc\u30b9\uff08\u5bb6\u65cf\u6027\uff09\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u304c\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08\u907a\u4f1d\u5b50\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5fc5\u305a\u3057\u3082\u767a\u75c7\u3057\u306a\u3044\uff09\u300d\u3068\u3044\u3046\u6027\u8cea\u3092\u6301\u3064\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7a81\u7136\u5909\u7570\uff08de novo\uff09\uff1a\u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u65b0\u305f\u306b\u767a\u751f\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\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>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u306a\u3044\u305f\u3081\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u30b5\u30dd\u30fc\u30c8\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<br>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u306a\u3069\u3092\u65e9\u671f\u304b\u3089\u884c\u3044\u3001\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8<br>\u81ea\u9589\u50be\u5411\u3084\u591a\u52d5\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u7642\u80b2\u3084\u74b0\u5883\u8abf\u6574\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u5c02\u9580\u533b\u306b\u3088\u308b\u4ecb\u5165\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u7ba1\u7406<br>\u5fc3\u96d1\u97f3\u306e\u6709\u7121\u3084\u6210\u9577\u66f2\u7dda\uff08\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\uff09\u306e\u78ba\u8a8d\u306a\u3069\u3001\u4e00\u822c\u7684\u306a\u5c0f\u5150\u79d1\u7684\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\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 recurrent 10q22q23 deletions and duplications.&#8221; <em>European Journal of Human Genetics<\/em>, 19, 1030\u20131038.<\/li>\n\n\n\n<li><strong>GARD (Genetic and Rare Diseases Information Center).<\/strong> &#8220;10q22.3q23.3 microduplication syndrome.&#8221;<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group).<\/strong> &#8220;10q duplications&#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-16540","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\/16540","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":6,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16540\/revisions"}],"predecessor-version":[{"id":16852,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16540\/revisions\/16852"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16540"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}