{"id":16571,"date":"2026-01-19T04:14:08","date_gmt":"2026-01-19T04:14:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16571"},"modified":"2026-01-19T04:15:15","modified_gmt":"2026-01-19T04:15:15","slug":"11q13-2-q13-4-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/11q13-2-q13-4-deletion-syndrome\/","title":{"rendered":"11q13.2-q13.4 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>11q13.2-q13.4 \u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>11q13 \u6b20\u5931\u75c7\u5019\u7fa4\uff08\u203b11q13\u5168\u4f53\u306e\u6b20\u5931\uff1d\u30aa\u30c8\u30c7\u30f3\u30bf\u30eb\u75c7\u5019\u7fa4\uff0foculo-oto-dental syndrome \u3068\u91cd\u306a\u308b\u3053\u3068\u3042\u308a\uff09 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5177688\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\uff08\u203b11q13.2-q13.4 \u6b20\u5931\u306f\u3001\u4e00\u822c\u306b <strong>\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u3068\u3057\u3066\u6271\u308f\u308c\u308b\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u3067\u3042\u308a\u3001\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u8907\u6570\u306e\u75c7\u5019\u7fa4\u3084\u81e8\u5e8a\u50cf\u3068\u91cd\u8907\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)\uff09<br><\/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\u7b2c11\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0913.2\u301c13.4 \u9818\u57df\u306e\u6b20\u5931<\/strong> \u3067\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306b\u306f\u795e\u7d4c\u767a\u9054\u3084\u8eab\u4f53\u5404\u90e8\u306e\u6b63\u5e38\u5f62\u6210\u306b\u5bc4\u4e0e\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u75c7\u4f8b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5831\u544a\u4f8b\u3067\u306f\u304a\u304a\u3088\u305d <strong>2.7\u301c3.4 Mb \u7a0b\u5ea6<\/strong> \u306e\u9023\u7d9a\u6b20\u5931\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u304c\u8d77\u3053\u308b\u3068\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c <strong>1\u30b3\u30d4\u30fc\u6b20\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<\/strong> \u3068\u306a\u308a\u3001\u3053\u308c\u304c\u591a\u69d8\u306a\u75c7\u72b6\u306e\u539f\u56e0\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>11q13.2-q13.4 deletion syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u5fae\u5c0f\u6b20\u5931\u75be\u60a3<\/strong> \u3067\u3042\u308a\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<br><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001<strong>\u5831\u544a\u4f8b\u306f\u6570\u4f8b\u7a0b\u5ea6<\/strong> \u306b\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u5e0c\u5c11\u306a\u75c7\u4f8b\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u75c7\u4f8b\u3067 <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u3066\u304a\u308a\u3001\u5bb6\u65cf\u5185\u3067\u306e\u907a\u4f1d\u306f\u5831\u544a\u304c\u5c11\u306a\u3044\u50be\u5411\u3067\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u6975\u3081\u3066\u4f4e\u983b\u5ea6\u3067\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u51fa\u751f\u983b\u5ea6\u3068\u3057\u3066\u306e\u660e\u78ba\u306a\u30c7\u30fc\u30bf\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u67d3\u8272\u4f53\u5fae\u5c0f\u6b20\u5931\u306e\u3072\u3068\u3064\u3068\u3057\u3066 <strong>\u81e8\u5e8a\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u5bfe\u8c61\u9818\u57df<\/strong> \u306b\u306a\u308b\u30ec\u30d9\u30eb\u306e\u5e0c\u5c11\u6027\u3067\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<br><\/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>11q13.2-q13.4 deletion syndrome \u306e\u81e8\u5e8a\u50cf\u306f\u5831\u544a\u4f8b\u304c\u5c11\u306a\u3044\u305f\u3081\u4e00\u5b9a\u306e\u30d1\u30bf\u30fc\u30f3\u306b\u53ce\u675f\u3057\u307e\u305b\u3093\u304c\u3001\u8907\u6570\u306e\u6587\u732e\u5831\u544a\u3068\u75c7\u4f8b\u30c7\u30fc\u30bf\u3092\u7dcf\u5408\u3059\u308b\u3068\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a <strong>\u591a\u69d8\u306a\u81e8\u5e8a\u7684\u7279\u5fb4<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br><\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08Developmental delay\uff09<\/strong><strong><br><\/strong>\u8a00\u8a9e\u30fb\u904b\u52d5\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u767a\u9054\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08Intellectual disability\uff09<\/strong><strong><br><\/strong>\u8efd\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u793a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\uff08Speech delay\uff09<\/strong><strong><br><\/strong>\u8a00\u8a9e\u9762\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u4f8b\u304c\u8907\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10160663\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u795e\u7d4c\u767a\u9054\u4e0a\u306e\u7279\u5fb4\u306f\u3001\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b <strong>SHANK2<\/strong> \u3092\u306f\u3058\u3081\u3068\u3059\u308b\u795e\u7d4c\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u95a2\u9023\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u7279\u306b SHANK2 \u306e\u6b20\u5931\u306f\u91cd\u5ea6\u306e\u8a00\u8a9e\u30fb\u8a8d\u77e5\u9045\u5ef6\u3068\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10160663\/?utm_source=chatgpt.com\">PMC<\/a>)<br><\/p>\n\n\n\n<p><strong>2. \u9854\u8c8c\u30fb\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u56f2\u7570\u5e38\uff08microcephaly\uff09<\/strong><strong><br><\/strong>\u5c0f\u982d\u75c7\u304c\u4e00\u90e8\u306e\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10160663\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u7570\u5e38\uff08craniofacial dysmorphism\uff09<\/strong><strong><br><\/strong>\u7a81\u51fa\u3057\u305f\u984d\u3001\u6df1\u3044\u773c\u7aa9\u3001\u7247\u5074\u307e\u3076\u305f\u4e0b\u5782\uff08ptosis\uff09\u3001\u4f4e\u4f4d\u8033\u3001\u5e83\u9f3b\u6839\uff0f\u9f3b\u6881\u5f62\u6210\u7570\u5e38\u306a\u3069\u3001\u69d8\u3005\u306a\u9854\u8c8c\u5f62\u614b\u304c\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10160663\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u767a\u9054\u7570\u5e38\uff08dental anomalies\uff09<\/strong><strong><br><\/strong>\u4e73\u6b6f\u3084\u6c38\u4e45\u6b6f\u306e\u767a\u80b2\u9045\u5ef6\u3001\u6b6f\u5217\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5177688\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u5178\u578b\u7684\u306b\u540c\u4e00\u8868\u73fe\u578b\u3068\u306f\u9650\u3089\u305a\u3001\u75c7\u4f8b\u3054\u3068\u306b\u7a0b\u5ea6\u3084\u5f62\u614b\u304c\u7570\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<br><\/p>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u5fc3\u7406\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u95a2\u9023\u306e\u884c\u52d5\u7279\u5fb4<\/strong> \u3084 <strong>\u591a\u52d5\u6027\uff08hyperactivity\uff09<\/strong> \u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<br>\u3053\u308c\u3089\u306f\u795e\u7d4c\u767a\u9054\u9045\u5ef6\u3068\u95a2\u9023\u3057\u3066\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5185\u81d3\u30fb\u305d\u306e\u4ed6\u7cfb\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u81d3\u7570\u5e38\uff08\u5fc3\u81d3\u30fb\u814e\u81d3\u306a\u3069\uff09<\/strong><strong><br><\/strong>\u4e00\u90e8\u306e\u60a3\u8005\u3067\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3084\u814e\u6a5f\u80fd\u7570\u5e38\u306a\u3069\u306e\u5185\u81d3\u7cfb\u306e\u554f\u984c\u304c\u5408\u4f75\u3057\u305f\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09<\/strong> \u3084 <strong>\u6442\u98df\u30fb\u6804\u990a\u306e\u554f\u984c<\/strong> \u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>11q13.2-q13.4 deletion syndrome \u306e\u539f\u56e0\u306f <strong>\u67d3\u8272\u4f53 11q13.2\u301cq13.4 \u9818\u57df\u306e\u4e00\u90e8\u6b20\u5931<\/strong> \u3067\u3059\u3002<br>\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u5f53\u8a72\u9818\u57df\u306e\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c <strong>\u7247\u65b9\u6b20\u640d\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<\/strong> \u3068\u306a\u308a\u3001\u305d\u306e\u7d50\u679c\u3068\u3057\u3066\u6b63\u5e38\u306a\u767a\u9054\u3084\u5f62\u614b\u5f62\u6210\u304c\u963b\u5bb3\u3055\u308c\u3001\u591a\u69d8\u306a\u75c7\u72b6\u304c\u751f\u3058\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u5177\u4f53\u7684\u306a\u5f71\u97ff\u3068\u3057\u3066\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SHANK2<\/strong><strong><br><\/strong>\u30b7\u30ca\u30d7\u30b9\u9aa8\u683c\u69cb\u9020\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3001\u6b20\u5931\u3059\u308b\u3068 <strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u30fb\u8a00\u8a9e\u9045\u5ef6<\/strong> \u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10160663\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u795e\u7d4c\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50<\/strong><strong><br><\/strong>\u6b20\u5931\u7bc4\u56f2\u5185\u306b\u306f\u8907\u6570\u306e\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u3001\u3053\u308c\u3089\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u591a\u69d8\u306a\u81e8\u5e8a\u50cf\uff0f\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u306b\u5bc4\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u306f\u4e00\u822c\u7684\u306b <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u8d77\u3053\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u3067\u3082\u5b50\u306b\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<br><\/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>11q13.2-q13.4 deletion syndrome \u306b\u5bfe\u3059\u308b <strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002<br>\u305d\u306e\u305f\u3081\u3001\u6cbb\u7642\u306f <strong>\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u652f\u6301\u7642\u6cd5\u30fb\u5305\u62ec\u7684\u652f\u63f4\u30fb\u5c02\u9580\u79d1\u9023\u643a<\/strong> \u3092\u57fa\u672c\u3068\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong>\uff1a<br>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u7b4b\u7dca\u5f35\u7570\u5e38\u306b\u5bfe\u3059\u308b\u4ecb\u5165\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a<br>\u8a00\u8a9e\u9045\u5ef6\u30fb\u767a\u97f3\u306e\u554f\u984c\u3078\u306e\u652f\u63f4\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a<br>\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u5411\u4e0a\u3001\u611f\u899a\u7d71\u5408\u652f\u63f4\u306a\u3069\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u884c\u52d5\u30fb\u5b66\u7fd2\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<br>\u884c\u52d5\u9762\u3084\u60c5\u7dd2\u9762\u306e\u8ab2\u984c\u3078\u306e\u652f\u63f4\u30fb\u4ecb\u5165\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>\u7279\u6b8a\u6559\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0<\/strong>\uff1a<br>\u77e5\u7684\u30fb\u5b66\u7fd2\u8ab2\u984c\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u652f\u63f4\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\u3084\u814e\u6a5f\u80fd\u7570\u5e38\u306e\u8a55\u4fa1\u30fb\u6cbb\u7642<\/strong>\uff1a<br>\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u5185\u79d1\u30fb\u5916\u79d1\u7684\u4ecb\u5165\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u533b\u7642\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong>\uff1a<br>\u767a\u80b2\u30fb\u6804\u990a\u30fb\u611f\u899a\u6a5f\u80fd\uff08\u8996\u899a\u30fb\u8074\u899a\uff09\u3092\u542b\u3081\u305f\u30d5\u30a9\u30ed\u30fc\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u539f\u56e0\u3001\u518d\u767a\u30ea\u30b9\u30af\u3001\u5bb6\u65cf\u8a08\u753b\u306b\u95a2\u3059\u308b <strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong> \u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>11q13.2-q13.4 deletion syndrome<\/strong> \u306f\u300111\u756a\u67d3\u8272\u4f53\u9577\u8155 q13.2\u301cq13.4 \u9818\u57df\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u7a00\u306a\u67d3\u8272\u4f53\u5fae\u5c0f\u6b20\u5931\u75be\u60a3\u3067\u3059\u3002\u6b20\u5931\u306b\u3088\u308a\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u3001\u9854\u8c8c\u7570\u5e38\u3001\u5185\u81d3\u7cfb\u306e\u5408\u4f75\u75c7\u3001\u884c\u52d5\u9762\u306e\u8ab2\u984c\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u307f\u3089\u308c\u3001\u75c7\u4f8b\u306b\u3088\u3063\u3066\u7a0b\u5ea6\u3084\u7279\u5fb4\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6b20\u5931\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\uff08\u7279\u306b SHANK2 \u306a\u3069\uff09\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u306b\u5927\u304d\u304f\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u306f\u6839\u6cbb\u7642\u6cd5\u304c\u306a\u304f\u3001\u767a\u9054\u652f\u63f4\u3001\u884c\u52d5\u652f\u63f4\u3001\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc\u3001\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3092\u4e2d\u5fc3\u3068\u3057\u305f <strong>\u5305\u62ec\u7684\u306a\u652f\u63f4\u30fb\u7ba1\u7406<\/strong> \u304c\u5fc5\u8981\u3067\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u652f\u63f4\u304a\u3088\u3073\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\u3068\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<br><\/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>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff1a\u300c11q13.2-q13.4 Deletion Syndrome\u300d\uff08\u75c7\u72b6\u30fb\u6cbb\u7642\u30fb\u539f\u56e0\u306a\u3069\u89e3\u8aac\uff09 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li>Clinical Genome Resource: 11q13.2-q13.4 recurrent region deletion cases\uff08\u767a\u9054\u9045\u5ef6\u30fb\u8eab\u4f53\u7570\u5e38\u306a\u3069\u75c7\u4f8b\u96c6\uff09 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37498?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n\n\n\n<li>Shen Y, 2023. De novo 11q13.3q13.4 deletion phenotype\u5831\u544a\uff08SHANK2\u95a2\u4e0e\u3068\u81e8\u5e8a\u50cf\uff09 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10160663\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>Kim YS \u307b\u304b. Chromosome 11q13 deletion syndrome: otodental syndrome \u75c7\u4f8b\u5831\u544a\uff08\u6b6f\u30fb\u8074\u899a\u30fb\u9854\u8c8c\u7570\u5e38\u3092\u542b\u3080\u6b20\u5931\u4f8b\uff09 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5177688\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\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-16571","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\/16571","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16571\/revisions"}],"predecessor-version":[{"id":16573,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16571\/revisions\/16573"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16571"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}