{"id":16637,"date":"2026-01-19T07:12:29","date_gmt":"2026-01-19T07:12:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16637"},"modified":"2026-01-20T02:54:54","modified_gmt":"2026-01-20T02:54:54","slug":"15q13-3-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q13-3-duplication-syndrome\/","title":{"rendered":"15q13.3 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><strong>15q13.3 microduplication syndrome<\/strong> \u2014 \u540c\u69d8\u306e\u9818\u57df\u306e\u91cd\u8907\u3092\u6307\u3059\u540d\u79f0\u3067\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li><strong>Reciprocal duplication of 15q13.3<\/strong> \u2014 15q13.3 \u53cd\u5fa9\u9818\u57df\u306e\u76f8\u88dc\u7684\u306a\u91cd\u8907\u3068\u3044\u3046\u610f\u5473\u3067\u6587\u732e\u306b\u51fa\u73fe\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>15q11-q13 duplication (\u4e00\u90e8)<\/strong> \u2014 \u5e83\u3044 15q11-q13 \u9818\u57df\u306e\u91cd\u8907\u306b\u542b\u307e\u308c\u308b\u30bf\u30a4\u30d7\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u672c\u9805\u306f <strong>BP4-BP5<\/strong> \u306e\u7bc4\u56f2\u306b\u7740\u76ee\u3057\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q13-3-deletion-syndrome-bp4-to-bp5-gain\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li>\u4e00\u90e8\u5831\u544a\u3067\u306f <strong>CHRNA7 duplication<\/strong> \u306a\u3069\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u5f37\u8abf\u3059\u308b\u8868\u73fe\u304c\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/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>\u7b2c15\u756a\u67d3\u8272\u4f53 \u9577\u8155 q \u306e 13.3 \u9818\u57df<\/strong>\uff08BP4-BP5\uff09\u306b\u304a\u3051\u308b <strong>\u5fae\u5c0f\u91cd\u8907\uff08microduplication\uff09<\/strong> \u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306f\u53cd\u5fa9\u914d\u5217\u3092\u4ecb\u3057\u305f\u69cb\u9020\u5909\u7570\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u3067\u3042\u308a\u3001\u91cd\u8907\u306f\u4e00\u822c\u7684\u306b <strong>CHRNA7 \u907a\u4f1d\u5b50<\/strong> \u3092\u542b\u3080\u90e8\u5206\u7684\u306a\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p>\u91cd\u8907\u306f\u30b2\u30ce\u30e0\u306e <strong>\u30b3\u30d4\u30fc\u6570\u30d0\u30ea\u30a2\u30f3\u30c8\uff08CNV\uff09<\/strong> \u306e\u4e00\u7a2e\u3067\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53 15 \u306e BP4-BP5 \u9593\u306b\u3042\u308b DNA \u304c 3 \u30b3\u30d4\u30fc\u4ee5\u4e0a\u306b\u306a\u308b\u3053\u3068\u3067\u767a\u75c7\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<br>\u81e8\u5e8a\u30e9\u30dc\u3067\u691c\u51fa\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3067\u306f\u3001BP4-BP5 \u91cd\u8907\u306f\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08array-CGH \/ CMA\uff09\u306a\u3069\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?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>15q13.3 \u91cd\u8907\u75c7\u5019\u7fa4\u306e <strong>\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u672a\u78ba\u7acb<\/strong> \u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7814\u7a76\u304c\u793a\u5506\u3057\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>15q11-q13 \u5168\u4f53\u306e\u91cd\u8907\u306f\u3001\u3042\u308b\u5927\u898f\u6a21\u96c6\u56e3\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067 <strong>0.0069\uff05\uff08\u7d041\/14,500\uff09<\/strong> \u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u91cd\u8907\u5168\u4f53\u306e\u4e00\u90e8\u3068\u3057\u306615q13.3\u91cd\u8907\u304c\u542b\u307e\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10772068\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>15q13.3 \u91cd\u8907\u306f 15q13.3 \u6b20\u5931\u306b\u6bd4\u8f03\u3059\u308b\u3068 <strong>\u304b\u306a\u308a\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u3001\u75c7\u4f8b\u6570\u3082\u9650\u5b9a\u7684<\/strong> \u3067\u3042\u308a\u3001\u81e8\u5e8a\u7684\u306b\u75c7\u72b6\u3042\u308a\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u308b\u30b1\u30fc\u30b9\u306f\u7a00\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>GeneReviews \u306e 15q13.3 \u6b20\u5931\u306e\u30ec\u30d3\u30e5\u30fc\u306b\u306f\u300115q13.3 \u91cd\u8907\u304c<strong>\u6b20\u5931\u307b\u3069\u660e\u78ba\u306a\u983b\u5ea6\u30c7\u30fc\u30bf\u3092\u6301\u3063\u3066\u3044\u306a\u3044<\/strong>\u304c\u3001\u4e00\u822c\u96c6\u56e3\u306e\u30b3\u30d4\u30fc\u6570\u30d0\u30ea\u30a2\u30f3\u30c8\u3068\u3057\u3066\u307f\u3089\u308c\u3066\u3044\u308b\u3068\u6ce8\u8a18\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u91cd\u8907\u306f <strong>\u907a\u4f1d\u6027\uff08\u89aa\u304b\u3089\u306e\u907a\u4f1d\uff09<\/strong> \u307e\u305f\u306f <strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong> \u306e\u4e21\u65b9\u3067\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3044\u305a\u308c\u3082\u500b\u4f53\u5dee\u306e\u80cc\u666f\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/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>15q13.3 duplication syndrome \u306e <strong>\u8868\u73fe\u578b\u306f\u5e45\u304c\u5e83\u304f<\/strong>\u3001\u6b20\u5931\u3068\u6bd4\u8f03\u3057\u3066\u6d78\u900f\u7387\u304c\u4f4e\u3044\uff08\u5168\u54e1\u306b\u75c7\u72b6\u304c\u51fa\u308b\u308f\u3051\u3067\u306f\u306a\u3044\uff09\u3082\u306e\u306e\u3001\u5831\u544a\u4f8b\u304b\u3089\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4e3b\u306a\u75c7\u72b6\u30fb\u7279\u5fb4\u304c\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<p><strong>\u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd\u95a2\u9023<\/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>\u91cd\u8907\u3092\u6301\u3064\u60a3\u8005\u306b\u304a\u3044\u3066\u3001\u8a00\u8a9e\u3084\u904b\u52d5\u80fd\u529b\u306e\u767a\u9054\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability \/ ID\uff09<\/strong><strong><br><\/strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u6a5f\u80fd\u4f4e\u4e0b\u3092\u793a\u3059\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u7279\u306b\u8907\u6570\u306e\u795e\u7d4c\u767a\u9054\u8ab2\u984c\u3092\u4f75\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u5ef6<\/strong><strong><br><\/strong>\u8868\u73fe\u8a00\u8a9e\u30fb\u7406\u89e3\u8a00\u8a9e\u5171\u306b\u9045\u308c\u304c\u307f\u3089\u308c\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u95a2\u9023\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u7279\u6027\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u884c\u52d5\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>15q13.3 \u91cd\u8907\u7fa4\u3067\u306f <strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306b\u95a2\u9023\u3059\u308b\u884c\u52d5\u7279\u6027<\/strong>\uff08\u793e\u4f1a\u6027\u306e\u56f0\u96e3\u3001\u53cd\u5fa9\u884c\u52d5\u306a\u3069\uff09\u304c\u89b3\u5bdf\u3055\u308c\u3001ASD \u3068\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u3067\u306f\u6ce8\u610f\u6b20\u5982\uff0f\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3084\u885d\u52d5\u6027\u3001\u611f\u899a\u904e\u654f\u306a\u3069\u306e\u884c\u52d5\u8ab2\u984c\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u7b4b\u7dca\u5f35\u30fb\u904b\u52d5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u3001\u521d\u671f\u306e\u904b\u52d5\u767a\u9054\u9045\u5ef6\u306b\u5bc4\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u5354\u8abf\u904b\u52d5\u306e\u8ab2\u984c\u3084\u59ff\u52e2\u4fdd\u6301\u306e\u8ab2\u984c\u304c\u968f\u4f34\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5831\u544a\u4f8b\u3067\u306f <strong>\u884c\u52d5\u7570\u5e38\u3001\u60c5\u7dd2\u75c7\u72b6\u3001\u793e\u4f1a\u7684\u9069\u5fdc\u306e\u8ab2\u984c<\/strong> \u306a\u3069\u3001\u7cbe\u795e\u9762\u306e\u591a\u69d8\u306a\u8ab2\u984c\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u4e00\u90e8\u3067\u306f <strong>\u53d9\u60c5\u969c\u5bb3<\/strong> \u3084\u611f\u60c5\u8abf\u7bc0\u306e\u8ab2\u984c\u304c\u8a3a\u65ad\u306b\u3064\u306a\u304c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u660e\u78ba\u306b\u91cd\u8907\u306e\u307f\u306b\u8d77\u56e0\u3059\u308b\u7279\u7570\u7684\u75c7\u72b6\u3068\u306f\u8a00\u3044\u5207\u308c\u307e\u305b\u3093\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3066\u3093\u304b\u3093 \/ \u75d9\u6523<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>15q13.3 \u91cd\u8907\u306b\u304a\u3051\u308b\u3066\u3093\u304b\u3093\u306e\u983b\u5ea6\u306f\u4e00\u5b9a\u3057\u307e\u305b\u3093\u304c\u3001\u5831\u544a\u3055\u308c\u305f\u60a3\u8005\u7fa4\u306e\u4e00\u90e8\u3067\u306f\u91cd\u8907\u3092\u6301\u3064\u30b1\u30fc\u30b9\u3067\u3082 <strong>\u3066\u3093\u304b\u3093\u767a\u4f5c\u307e\u305f\u306f\u7570\u5e38\u306a\u96fb\u6c17\u751f\u7406\u6240\u898b<\/strong> \u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u6b20\u5931\u3068\u306f\u7570\u306a\u308a\u3001\u91cd\u8907\u5358\u72ec\u3067\u660e\u78ba\u306a\u3066\u3093\u304b\u3093\u50be\u5411\u304c\u9ad8\u7387\u306b\u51fa\u308b\u3068\u306f\u9650\u3089\u306a\u3044\u305f\u3081\u3001\u500b\u5225\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u80a5\u6e80\u30fb\u8033\u9f3b\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f <strong>\u80a5\u6e80\u3084\u8033\u306e\u611f\u67d3\u75c7\u306e\u983b\u5ea6\u4e0a\u6607<\/strong> \u304c\u793a\u5506\u3055\u308c\u308b\u3082\u306e\u306e\u3001\u56e0\u679c\u95a2\u4fc2\u304c\u5fc5\u305a\u3057\u3082\u660e\u78ba\u5316\u3055\u308c\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u5178\u578b\u7684\u306a<strong>\u7279\u5fb4\u7684\u9854\u8c8c<\/strong>\u3084\u518d\u767a\u6027\u5947\u5f62\u30d1\u30bf\u30fc\u30f3\u306f\u6b20\u5931\u307b\u3069\u660e\u78ba\u3067\u306f\u306a\u304f\u3001\u8868\u73fe\u578b\u306f\u3088\u308a\u7de9\u3084\u304b\u3067\u591a\u69d8\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>15q13.3 duplication syndrome \u306e\u539f\u56e0\u306f\u300115\u756a\u67d3\u8272\u4f53 15q13.3 \u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\uff08\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/strong><strong><br><\/strong>\u91cd\u8907\u306f <strong>\u975e\u30a2\u30ec\u30eb\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09<\/strong> \u306e\u7d50\u679c\u3068\u3057\u3066\u751f\u3058\u3001BP4-BP5 \u9593\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u3092 3 \u30b3\u30d4\u30fc\u4ee5\u4e0a\u306b\u3059\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u767a\u9054\u3084\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u30fb\u884c\u52d5\u5236\u5fa1\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u304c\u904e\u5270\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p>\u91cd\u8907\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u5019\u88dc\u3068\u3057\u3066\u306f\u6b21\u304c\u6319\u3052\u3089\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CHRNA7<\/strong>\uff08\u30cb\u30b3\u30c1\u30f3\u6027\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u53d7\u5bb9\u4f53 \u03b17 \u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u907a\u4f1d\u5b50\uff09 \u2014 \u795e\u7d4c\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3084\u8a8d\u77e5\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308b\u3068\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u91cd\u8907\u306f <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3067\u751f\u3058\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u6027\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u89aa\u306b\u540c\u3058\u91cd\u8907\u3092\u6301\u3061\u306a\u304c\u3089\u75c7\u72b6\u304c\u8efd\u5ea6\u307e\u305f\u306f\u7121\u75c7\u72b6\u306e\u3053\u3068\u3082\u3042\u308a\u3001<strong>\u6d78\u900f\u7387\u304c\u4e0d\u5b8c\u5168\uff08low penetrance\uff09\u3067\u3042\u308b<\/strong> \u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u652f\u6301\u7642\u6cd5\u30fb\u7ba1\u7406\uff09<\/strong><\/h2>\n\n\n\n<p>15q13.3 duplication syndrome \u306b\u5bfe\u3057\u3066\u306f\u3001<strong>\u6839\u672c\u6cbb\u7642\uff08\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u65b9\u6cd5\uff09\u306f\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f\u4e3b\u306b <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u3068\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u306b\u306a\u308a\u307e\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>\u65e9\u671f\u7642\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0<\/strong>\uff1a\u904b\u52d5\u3001\u8a8d\u77e5\u3001\u65e5\u5e38\u751f\u6d3b\u529b\u3092\u9ad8\u3081\u308b\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5<\/strong>\uff1a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3068\u767a\u8a71\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5<\/strong>\uff1a\u611f\u899a\u7d71\u5408\u3001\u751f\u6d3b\u6280\u80fd\u8a13\u7df4<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u65e9\u671f\u304b\u3089\u7d99\u7d9a\u7684\u306b\u884c\u3046\u3053\u3068\u3067\u751f\u6d3b\u306e\u8cea\u6539\u5584\u306b\u5bc4\u4e0e\u3057\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 \u3084 ADHD \u306a\u3069\u884c\u52d5\u9762\u306e\u8ab2\u984c\u306b\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u652f\u63f4\u30fb\u652f\u63f4\u30b0\u30eb\u30fc\u30d7<\/strong>\uff1a\u60c5\u7dd2\u9762\u306e\u30b1\u30a2\u3068\u793e\u4f1a\u6027\u652f\u63f4<\/li>\n\n\n\n<li>\u500b\u5225\u6559\u80b2\u8a08\u753b\uff08IEP\uff09\u306a\u3069\u6559\u80b2\u652f\u63f4<\/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><strong>\u3066\u3093\u304b\u3093<\/strong> \u304c\u3042\u308b\u5834\u5408\u306f\u5c0f\u5150\u795e\u7d4c\u79d1\u306a\u3069\u3067\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u7528\u3044\u305f\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u80a5\u6e80\u3084\u5408\u4f75\u75c7<\/strong> \u304c\u3042\u308b\u5834\u5408\u306f\u5185\u79d1\u7684\u30d5\u30a9\u30ed\u30fc<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u767a\u9054\u30fb\u5065\u5eb7\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5bb6\u65cf\u652f\u63f4\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u306e\u6027\u8cea\u3068 <strong>\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1<\/strong><\/li>\n\n\n\n<li>\u51fa\u751f\u524d\u691c\u67fb\u3067\u306e\u8aac\u660e\u3068\u8a08\u753b<\/li>\n\n\n\n<li>\u5bb6\u65cf\u30fb\u5b66\u6821\u30fb\u798f\u7949\u6a5f\u95a2\u3068\u306e\u9023\u643a<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>15q13.3 duplication syndrome<\/strong> \u306f\u300115\u756a\u67d3\u8272\u4f53\u306e <strong>15q13.3 \u9818\u57df\uff08BP4-BP5\uff09\u306e\u5fae\u5c0f\u91cd\u8907<\/strong> \u306b\u3088\u3063\u3066\u751f\u3058\u308b\u591a\u69d8\u306a\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u3092\u5448\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306a\u81e8\u5e8a\u7279\u5fb4\u306f <strong>\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u8a00\u8a9e\u9045\u5ef6\u3001ASD \u3084 ADHD \u306a\u3069\u884c\u52d5\u969c\u5bb3\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong> \u3067\u3042\u308a\u3001\u3066\u3093\u304b\u3093\u3084\u80a5\u6e80\u306a\u3069\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u500b\u4f53\u5dee\u304c\u5927\u304d\u304f\u3001\u6b20\u5931\u306b\u6bd4\u3079\u3066\u6d78\u900f\u7387\u306f\u4f4e\u3044\u3082\u306e\u306e\u3001\u795e\u7d4c\u767a\u9054\u3084\u884c\u52d5\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u306f <strong>\u75c7\u72b6\u7de9\u548c\u30fb\u652f\u63f4\u91cd\u8996<\/strong> \u306e\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3001\u65e9\u671f\u306e\u4ecb\u5165\u3068\u652f\u63f4\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u91cd\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?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 GeneReviews:<\/strong> 15q13.3 region \u91cd\u8907\u3068\u6b20\u5931\u306e\u95a2\u9023\u300215q13.3 duplication \u306e\u8a18\u8ff0\u3068\u75c7\u72b6\u5019\u88dc\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>Budisteanu M \u3089 (2021):<\/strong> 15q13.3 region duplication \u306b\u95a2\u3059\u308b\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002\u8a00\u8a9e\u9045\u5ef6\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001ASD\u3001\u77e5\u7684\u969c\u5bb3\u3068\u306e\u95a2\u9023\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1025?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li><strong>Hiro Clinic:<\/strong> 15q13.3 \u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u5019\u3068\u652f\u63f4\u6982\u8981\uff08\u548c\u6587\uff09\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q13-3-deletion-syndrome-bp4-to-bp5-gain\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>Orphanet \/ 15q11-q13 microduplication syndrome:<\/strong> \u95a2\u9023\u75c7\u72b6\u3068\u75ab\u5b66\u60c5\u5831\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/238446?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>Population screening 15q11-q13 duplications:<\/strong> \u6bcd\u6027\u91cd\u8907\u3068\u81e8\u5e8a\u50cf\u95a2\u9023\u30c7\u30fc\u30bf\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10772068\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ol>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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