{"id":16650,"date":"2026-01-19T07:29:22","date_gmt":"2026-01-19T07:29:22","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16650"},"modified":"2026-01-19T07:32:24","modified_gmt":"2026-01-19T07:32:24","slug":"15q24-duplication-syndrome-a-c","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q24-duplication-syndrome-a-c\/","title":{"rendered":"15q24 duplication syndrome (A-C)"},"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>15q24 microduplication syndrome<\/strong> \u2014 15q24\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\u306b\u3088\u308b\u75c7\u72b6\u5168\u822c\u3092\u6307\u3059\u7528\u8a9e\u3002<\/li>\n\n\n\n<li><strong>Reciprocal duplication of 15q24 region<\/strong> \u2014 15q24\u6b20\u5931\u3068\u76f8\u88dc\u7684\u306a\u69cb\u9020\u7570\u5e38\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u533b\u5b66\u6587\u732e\u3067\u306f\u75c7\u4f8b\u3054\u3068\u306b <strong>dup(15)(q24)<\/strong> \u3084 <strong>15q24 CNV<\/strong> \u3068\u8868\u8a18\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u3001<strong>(A-C)<\/strong> \u3068\u3044\u3046\u8868\u8a18\u306f LCR\uff08low copy repeat \/ \u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff09\u306b\u3088\u308b\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u4f4d\u7f6e\u306e\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u300115q24\u9818\u57df\u306b\u306f\u8907\u6570\u306eLCR\u304c\u5b58\u5728\u3059\u308b\u305f\u3081 A\u301cD \u3068\u3044\u3063\u305f\u533a\u5206\u304c\u8a2d\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u91cd\u8907\uff0f\u6b20\u5931\u304c\u751f\u3058\u3084\u3059\u3044\u9818\u57df\uff09\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37396?utm_source=chatgpt.com\">search.clinicalgenome.org<\/a>)<\/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>\u7b2c15\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0915q24 \u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\uff08microduplication\uff09<\/strong> \u304c\u539f\u56e0\u3067\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306f\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\u304c\u8907\u6570\u5b58\u5728\u3057\uff08LCR15q24A\u301cLCR15q24D \u306a\u3069\uff09\u3001\u67d3\u8272\u4f53\u518d\u7de8\u6210\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u201c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u201d\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37396?utm_source=chatgpt.com\">search.clinicalgenome.org<\/a>)<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f 15q24.1\u301c15q24.3 \u7a0b\u5ea6\u306e\u7bc4\u56f2\u304c\u5bfe\u8c61\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u91cd\u8907\u306e\u7bc4\u56f2\u3084\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u81e8\u5e8a\u50cf\u3084\u91cd\u75c7\u5ea6\u304c\u500b\u4f53\u5dee\u3092\u793a\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>15q24 duplication syndrome \u306f <strong>\u4e16\u754c\u7684\u306b\u3082\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38<\/strong> \u3068\u3055\u308c\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u672a\u78ba\u7acb\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u306e\u4f8b\u306f <strong>\u75c7\u4f8b\u5831\u544a\u304c\u3054\u304f\u9650\u3089\u308c\u3066\u3044\u308b\u30ec\u30d9\u30eb<\/strong> \u3067\u3001\u901a\u5e38\u306e\u96c6\u56e3\u75ab\u5b66\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u304f\u6570\u5b57\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>15q24\u6b20\u5931\u306e\u5831\u544a\u306b\u6bd4\u3079\u3066\u3001\u91cd\u8907\u306e\u5831\u544a\u306f\u304b\u306a\u308a\u5c11\u306a\u304f\u3001\u3053\u308c\u306f <strong>\u91cd\u8907\u306e\u65b9\u304c\u81e8\u5e8a\u8868\u73fe\u578b\u304c\u8efd\u3044\uff0f\u4e0d\u9855\u6027\u306e\u5834\u5408\u3082\u3042\u308a\u5f97\u308b<\/strong> \u3068\u3044\u3046\u4e00\u822c\u7684\u306a\u50be\u5411\u3068\u4e00\u81f4\u3057\u307e\u3059\uff08\u4ed6\u306e\u5fae\u5c0f\u91cd\u8907\u75c7\u3067\u3082\u91cd\u8907\u306f\u6b20\u5931\u3088\u308a\u3082\u8868\u73fe\u578b\u304c\u8efd\u3044\u30fb\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3068\u3055\u308c\u308b\uff09\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3351230\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001<strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong> \u3068\u3057\u3066\u751f\u3058\u308b\u4f8b\u3068\u3001<strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5bb6\u65cf\u5185\u3067\u306e\u8907\u6570\u4f8b\u3068\u3044\u3046\u5831\u544a\u306f\u6975\u3081\u3066\u307e\u308c\u3067\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1769721208001031?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/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>15q24 duplication syndrome \u306f\u73fe\u5728\u307e\u3067\u75c7\u4f8b\u5831\u544a\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u4ee5\u4e0b\u306f <strong>\u5831\u544a\u75c7\u4f8b\u306e\u7279\u5fb4\u3068\u3001\u9006\u306e\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\u3068\u306e\u6bd4\u8f03\u304b\u3089\u5f97\u3089\u308c\u3066\u3044\u308b\u77e5\u898b<\/strong> \u3092\u3082\u3068\u306b\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002\u91cd\u8907\u306e\u60a3\u8005\u306f\u6b20\u5931\u75c7\u72b6\u3068\u4e00\u90e8\u5171\u901a\u3059\u308b\u81e8\u5e8a\u50cf\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u767a\u9054\u30fb\u795e\u7d4c\u30fb\u8eab\u4f53\u5f62\u614b\u306a\u3069\u591a\u65b9\u9762\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1769721208001031?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/a>)<\/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>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u5ef6\uff08global developmental delay\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u7279\u306b\u5e7c\u5150\u671f\u306b\u904b\u52d5\u30fb\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1769721208001031?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u5ef6<\/strong> \u3084 <strong>\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b<\/strong> \u3068\u3044\u3063\u305f\u77e5\u7684\u30fb\u767a\u9054\u9762\u306e\u8ab2\u984c\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/journals.sagepub.com\/doi\/abs\/10.1177\/00099228241296235?utm_source=chatgpt.com\">SAGE Journals<\/a>)<\/li>\n\n\n\n<li>ASD\uff08\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff09\u985e\u4f3c\u306e\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u3084\u793e\u4f1a\u7684\u76f8\u4e92\u4f5c\u7528\u306e\u8ab2\u984c\u304c\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3082\u3042\u308a\u3001\u795e\u7d4c\u767a\u9054\u75c7\u306e1\u3064\u3068\u3057\u3066\u8a55\u4fa1\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/journals.sagepub.com\/doi\/abs\/10.1177\/00099228241296235?utm_source=chatgpt.com\">SAGE Journals<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u91cd\u8907\u306f\u6b20\u5931\u306e\u9006\u3067\u3042\u308a\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u5f37\u3044\u795e\u7d4c\u767a\u9054\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5e83\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u91cd\u8907\u3067\u3082\u795e\u7d4c\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u304c\u4e88\u60f3\u3055\u308c\u308b\u3068\u3044\u3046\u610f\u5473\u3067\u5171\u901a\u3059\u308b\u5074\u9762\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p><strong>2) \u884c\u52d5\u9762\u30fb\u60c5\u7dd2\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u75c7\u4f8b\u3067\u306f\u3001<strong>\u884c\u52d5\u306e\u53cd\u5fa9\u6027\u3001\u4e0d\u5b89\u30fb\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3001\u6ce8\u610f\u529b\u306e\u554f\u984c<\/strong> \u306a\u3069\u884c\u52d5\u7279\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>ASD\u95a2\u9023\u306e\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u304c\u89b3\u5bdf\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\u306e\u81e8\u5e8a\u50cf\u306f\u6b20\u5931\u306b\u6bd4\u3079\u3066\u4e00\u822c\u306b\u67d4\u3089\u304b\u3044\u5834\u5408\u304c\u591a\u3044\u3068\u3044\u3046\u898b\u89e3\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3351230\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u91cd\u8907\u60a3\u8005\u3067\u306f <strong>\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u4e00\u90e8\u4f3c\u305f\u8eab\u4f53\u7684\u7279\u5fb4<\/strong> \u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5fc5\u305a\u3057\u3082\u5168\u4f8b\u306b\u5171\u901a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u75c7\u72b6\u306f\u500b\u4f53\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002 (<a href=\"https:\/\/thinkgenetic.org\/diseases\/15q24-deletion-syndrome\/?utm_source=chatgpt.com\">ThinkGenetic Foundation<\/a>)<\/p>\n\n\n\n<p>\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u7279\u5fb4\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u30fb\u9854\u8c8c\u306e\u5909\u5316<\/strong>\uff1a\u773c\u9593\u8ddd\u96e2\u306e\u5e83\u3055\uff08hypertelorism\uff09\u3084\u307e\u3076\u305f\u306e\u5f62\u614b\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/thinkgenetic.org\/diseases\/15q24-deletion-syndrome\/?utm_source=chatgpt.com\">ThinkGenetic Foundation<\/a>)<\/li>\n\n\n\n<li><strong>\u56db\u80a2\u30fb\u6307\u8dbe\u306e\u7570\u5e38<\/strong>\uff1a\u624b\u6307\u306e\u5f62\u614b\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1769721208001031?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/a>)<\/li>\n\n\n\n<li><strong>\u6027\u5668\u306e\u767a\u9054\u7570\u5e38\uff08hypospadias \u306a\u3069\uff09<\/strong> \u304c\u7537\u6027\u3067\u307f\u3089\u308c\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/thinkgenetic.org\/diseases\/15q24-deletion-syndrome\/?utm_source=chatgpt.com\">ThinkGenetic Foundation<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4) \u305d\u306e\u4ed6\u306e\u5408\u4f75\u6240\u898b<\/strong><\/p>\n\n\n\n<p>\u4e00\u90e8\u75c7\u4f8b\u3067\u306f <strong>\u514d\u75ab\u7cfb\u3084\u611f\u899a\u5668\u7cfb\uff08\u8996\u899a\u30fb\u8074\u899a\uff09\u3078\u306e\u5f71\u97ff<\/strong> \u304c\u3042\u308a\u3001\u767a\u80b2\u30fb\u751f\u6d3b\u6a5f\u80fd\u8a55\u4fa1\u3067\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u75c7\u4f8b\u3054\u3068\u306b\u76f8\u9055\u304c\u5927\u304d\u3044\u305f\u3081\u5305\u62ec\u7684\u306a\u75c7\u5019\u7fa4\u50cf\u3068\u3057\u3066\u4e00\u822c\u5316\u3059\u308b\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/thinkgenetic.org\/diseases\/15q24-deletion-syndrome\/?utm_source=chatgpt.com\">ThinkGenetic Foundation<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>15q24 duplication syndrome \u306e\u539f\u56e0\u306f\u3001<strong>15\u756a\u67d3\u8272\u4f53\u9577\u8155 q24 \u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3066\u30b3\u30d4\u30fc\u6570\u304c\u5897\u52a0\u3059\u308b\u3053\u3068<\/strong>\u3067\u3059\u3002\u3053\u308c\u306f\u67d3\u8272\u4f53\u518d\u7de8\u6210\uff08CNV\uff1a\u30b3\u30d4\u30fc\u6570\u30d0\u30ea\u30a2\u30f3\u30c8\uff09\u306e\u4e00\u7a2e\u3067\u3042\u308a\u3001\u91cd\u8907\u306b\u3088\u308a\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u30b3\u30d4\u30fc\u304b\u30893\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\u3067 <strong>\u907a\u4f1d\u5b50\u767a\u73fe\u91cf\u304c\u5909\u5316\u3057\u3001\u767a\u9054\u30fb\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u7684\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u306f <strong>\u975e\u30a2\u30ec\u30eb\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09<\/strong> \u306b\u3088\u3063\u3066\u767a\u751f\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u300115q24\u9818\u57df\u306e <strong>\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\uff08LCR\uff09<\/strong> \u304c\u69cb\u9020\u7570\u5e38\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u90e8\u4f4d\u306b\u306a\u3063\u3066\u3044\u308b\u305f\u3081\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37396?utm_source=chatgpt.com\">search.clinicalgenome.org<\/a>)<\/li>\n\n\n\n<li>15q24\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u591a\u6570\u306e\u5019\u88dc\u907a\u4f1d\u5b50\uff08\u4f8b\uff1a<strong>SIN3A\u3001CYP11A1\u3001SEMA7A\u3001ARID3B<\/strong> \u7b49\uff09\u304c\u6b20\u5931\u90e8\u4f4d\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u3067\u91cd\u3044\u8868\u73fe\u578b\u304c\u751f\u3058\u308b\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u91cd\u8907\u3067\u306f <strong>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u767a\u73fe\u3059\u308b\u53ef\u80fd\u6027<\/strong> \u304c\u3042\u308a\u3001\u4e2d\u67a2\u795e\u7d4c\u767a\u9054\u306a\u3069\u306b\u6a5f\u80fd\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\uff08\u6b20\u5931\uff0f\u91cd\u8907\u53cc\u65b9\u3067\u6a5f\u80fd\u969c\u5bb3\u304c\u73fe\u308c\u308b\u4f8b\u3068\u3057\u3066\u89b3\u5bdf\uff09\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u767a\u751f\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u91cd\u8907\u4f8b\u306f <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3067\u3042\u308a\u3001\u89aa\u306b\u306f\u898b\u3089\u308c\u306a\u3044\u5909\u7570\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u907a\u4f1d\u6027\u306e\u30b1\u30fc\u30b9\u304c\u3042\u308b\u53ef\u80fd\u6027\u306f\u5426\u5b9a\u3055\u308c\u307e\u305b\u3093\u304c\u3001\u75c7\u4f8b\u6570\u304c\u9650\u3089\u308c\u308b\u305f\u3081\u660e\u78ba\u306a\u907a\u4f1d\u30d1\u30bf\u30fc\u30f3\u306e\u7d71\u8a08\u7684\u78ba\u7acb\u306f\u3042\u308a\u307e\u305b\u3093\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>\u73fe\u5728\u3001<strong>15q24 duplication syndrome \u81ea\u4f53\u3092\u6839\u672c\u7684\u306b\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\uff08\u6b20\u5931\u90e8\u5206\u306e\u88dc\u586b\u3084\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u4fee\u6b63\u3059\u308b\u6cbb\u7642\uff09\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong><strong><br><\/strong>\u6cbb\u7642\/\u7ba1\u7406\u306f <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09<\/strong> \u3068\u3001\u767a\u9054\u30fb\u751f\u6d3b\u6a5f\u80fd\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3059\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u4ecb\u5165\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong>\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u5ef6\u3078\u306e\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u306b\u5bfe\u3059\u308b\u4ecb\u5165\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u30fb\u611f\u899a\u7d71\u5408\u306e\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u5305\u62ec\u7684\u306a\u7642\u80b2\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u3001\u6a5f\u80fd\u7372\u5f97\u3068\u751f\u6d3b\u306e\u8cea\u306e\u6539\u5584\u306b\u3064\u306a\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5<\/strong>\uff1aASD \/ ADHD \u985e\u4f3c\u75c7\u72b6\u3084\u884c\u52d5\u9762\u306e\u8ab2\u984c\u306b\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u60c5\u7dd2\u652f\u63f4\u3084\u5bfe\u4eba\u95a2\u4fc2\u6a5f\u80fd\u306e\u5f37\u5316\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u533b\u7642\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066 <strong>\u795e\u7d4c\u79d1\u8a55\u4fa1<\/strong> \u3084 <strong>\u5c0f\u5150\u79d1\u30d5\u30a9\u30ed\u30fc<\/strong>\u3002<\/li>\n\n\n\n<li>\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u306a\u3089 <strong>\u5c02\u9580\u533b\u7642\uff08\u4f8b\uff1a\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\uff09<\/strong> \u3068\u306e\u9023\u643a\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u6559\u80b2\u652f\u63f4\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li> <strong>\u500b\u5225\u6559\u80b2\u8a08\u753b\uff08IEP\uff09<\/strong> \u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u63d0\u4f9b\u3002<\/li>\n\n\n\n<li>\u5bb6\u5ead\u30fb\u5b66\u6821\u30fb\u798f\u7949\u3068\u306e\u9023\u643a\u306b\u3088\u308b\u652f\u63f4\u74b0\u5883\u306e\u69cb\u7bc9\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u691c\u67fb\u7d50\u679c\u306b\u57fa\u3065\u304f <strong>\u518d\u767a\u30ea\u30b9\u30af<\/strong> \u306e\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u524d\u691c\u67fb\u3084\u5bb6\u65cf\u8a08\u753b\u306e\u60c5\u5831\u63d0\u4f9b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>15q24 duplication syndrome (A-C)<\/strong> \u306f\u3001<strong>15\u756a\u67d3\u8272\u4f53\u9577\u8155 q24 \u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907<\/strong>\u306b\u3088\u308a\u751f\u3058\u308b\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u81e8\u5e8a\u50cf\u306f\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u308b\u3082\u306e\u306e\u3001\u4e3b\u306b <strong>\u767a\u9054\u9045\u5ef6\u3001\u8a00\u8a9e\u9045\u5ef6\u3001\u884c\u52d5\u9762\u306e\u7279\u5fb4\u3001\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u3001\u8eab\u4f53\u7684\u5909\u5316<\/strong> \u3092\u5448\u3059\u308b\u3068\u3055\u308c\u307e\u3059\u3002\u91cd\u8907\u304c\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u6bd4\u8f03\u3057\u3066\u4e00\u822c\u306b\u8efd\u5ea6\uff0f\u5909\u7570\u6027\u304c\u9ad8\u3044\u50be\u5411\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u751f\u6d3b\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u305f\u3081\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b <strong>\u7642\u80b2\u30fb\u533b\u7642\u30fb\u6559\u80b2\u652f\u63f4<\/strong> \u304c\u91cd\u8981\u3067\u3059\u3002\u8a3a\u65ad\u306f\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff08CMA\uff09\u306a\u3069\u3067\u884c\u308f\u308c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u9451\u5225\u3068\u5408\u308f\u305b\u3066\u7dcf\u5408\u7684\u306a\u652f\u63f4\u8a08\u753b\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>NCBI MedGen: Chromosome 15q24 duplication syndrome<\/strong> \u2014 \u91cd\u8907\u306e\u5831\u544a\u4f8b\u3068\u57fa\u790e\u60c5\u5831\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462025?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>Spiegel M \u3089:<\/strong> A 15q24 microduplication reciprocal to 15q24 microdeletion \u2014 \u521d\u671f\u306e\u91cd\u8907\u75c7\u4f8b\u5831\u544a\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1769721208001031?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/a>)<\/li>\n\n\n\n<li><strong>A C\u00e1mara-Dom\u00ednguez 2025:<\/strong> Clinical case of neurodevelopmental delay associated with 15q24 duplication. (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39573983\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li><strong>RareChromo 15q duplications\u8aac\u660e<\/strong> \u2014 15q\u9818\u57df\u91cd\u8907\u5168\u822c\u306e\u80cc\u666f\u60c5\u5831\u3002 (<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2015\/15q%20duplications%20FTNW.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li><strong>Microduplications\u4e00\u822c\u30ec\u30d3\u30e5\u30fc\uff08Weise 2012\uff09<\/strong> \u2014 \u91cd\u8907\u306e\u8868\u73fe\u578b\u50be\u5411\u306b\u3064\u3044\u3066\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3351230\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ol>\n\n\n\n<p><\/p>\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-16650","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\/16650","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16650\/revisions"}],"predecessor-version":[{"id":16654,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16650\/revisions\/16654"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16650"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}