{"id":16631,"date":"2026-01-19T07:02:24","date_gmt":"2026-01-19T07:02:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16631"},"modified":"2026-01-20T02:08:32","modified_gmt":"2026-01-20T02:08:32","slug":"15q11-q13-duplication-syndrome-bp1-bp3","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q11-q13-duplication-syndrome-bp1-bp3\/","title":{"rendered":"15q11-q13 duplication syndrome (BP1-BP3)"},"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>Chromosome 15q11-q13 duplication syndrome<\/strong>\uff0815\u756a\u67d3\u8272\u4f53 15q11-q13 \u91cd\u8907\u75c7\u5019\u7fa4\uff09 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dup15q?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li><strong>Dup15q syndrome<\/strong>\uff0f<strong>Duplication 15q syndrome<\/strong>\uff08\u4e00\u822c\u7684\u306a\u7565\u79f0\uff09 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dup15q?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li><strong>Maternal 15q11-q13 duplication syndrome<\/strong>\uff08\u6bcd\u6027\u7531\u6765 15q11-q13 \u91cd\u8907\uff09 \u2014 \u6bcd\u89aa\u7531\u6765\u306e\u91cd\u8907\u304c\u5178\u578b\u7684\u306b\u91cd\u3044\u75c7\u72b6\u3092\u793a\u3059\u30bf\u30a4\u30d7 (<a href=\"https:\/\/grj.umin.jp\/grj\/m_dup15q.htm?utm_source=chatgpt.com\">GRJ UMIN<\/a>)<\/li>\n\n\n\n<li><strong>Isodicentric 15 (idic(15))<\/strong> \u3084 <strong>interstitial duplication 15q11-q13<\/strong> \u2014 Dup15q \u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Isodicentric_15?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u4e00\u822c\u306b <strong>\u201cDup15q syndrome\u201d<\/strong> \u3068\u8868\u8a18\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u5168\u3066\u304c\u672c\u75c7\u5019\u7fa4\u307e\u305f\u306f\u305d\u306e\u4e9c\u578b\u3068\u3057\u3066\u542b\u307e\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dup15q?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/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>\u3053\u306e\u75be\u60a3\u306f\u3001\u30d2\u30c8 <strong>\u7b2c15\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306e proximal \u90e8\u5206\u306b\u3042\u308b 15q11-q13 \u9818\u57df\uff08\u7279\u306b BP1-BP3 \u9593\uff09<\/strong> \u304c <strong>\u91cd\u8907\uff08duplication\uff09<\/strong> \u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u751f\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37404?utm_source=chatgpt.com\">ClinGen<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>15q11-q13 \u9818\u57df\u306b\u306f\u4f4e\u30b3\u30d4\u30fc\u30ea\u30d4\u30fc\u30c8\u9818\u57df\uff08LCRs\uff09\u304c\u3042\u308a\u3001\u3053\u308c\u304c\u975e\u30a2\u30ec\u30eb\u540c\u6e90\u7d44\u63db\u3048\u3092\u8a98\u767a\u3057\u3084\u3059\u304f\u3001\u6b20\u5931\u3084\u91cd\u8907\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u201c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u201d\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/1422-0067\/24\/21\/15818?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>BP1-BP3 \u306e\u91cd\u8907\u306f <strong>class I Dup15q<\/strong> \u3068\u3055\u308c\u308b\u4ee3\u8868\u7684\u306a\u69cb\u9020\u3067\u3042\u308a\u3001BP2-BP3 \u91cd\u8907\uff08class II\uff09\u3068\u3068\u3082\u306b PWS\/AS\uff08Prader-Willi\uff0fAngelman\uff09\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u9818\u57df\u3092\u542b\u3080\u9818\u57df\u304c\u30b3\u30d4\u30fc\u6570\u7570\u5e38\u3068\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37404?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>15q11-q13 duplication syndrome \u306f <strong>\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3059\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u666e\u53ca\u3057\u305f\u3053\u3068\u306b\u3088\u308a\u75c7\u4f8b\u6570\u306f\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dup15q \u306f <strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u306e\u907a\u4f1d\u7684\u539f\u56e0\u3068\u3057\u3066\u306f\u6bd4\u8f03\u7684\u591a\u3044<\/strong>\u90e8\u985e\u306b\u5165\u308a\u3001\u5168\u81ea\u9589\u75c7\u75c7\u4f8b\u306e <strong>\u7d041\u301c3%<\/strong> \u3092\u5360\u3081\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\uff08Dup15q \u5168\u822c\u3068\u3057\u3066\u306e\u6570\u5024\uff09\u3002 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dup15q?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u4e0a\u8ff0\u306e\u6570\u5024\u306f BP1-BP3 \u91cd\u8907\u3092\u542b\u3080\u5e83\u3044 15q11-q13 \u91cd\u8907\u5168\u4f53\u3092\u5bfe\u8c61\u3068\u3057\u3066\u304a\u308a\u3001BP1-BP3 \u306e\u7279\u5b9a\u6b20\u5931\u3060\u3051\u306e\u96c6\u8a08\u3067\u306f\u53b3\u5bc6\u306a\u51fa\u751f\u983b\u5ea6\u306f\u672a\u78ba\u7acb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5834\u5408 <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3067\u3059\u304c\u3001\u5bb6\u65cf\u5185\u767a\u75c7\u4f8b\u3084\u30e2\u30b6\u30a4\u30af\u72b6\u614b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u614e\u91cd\u306a\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/www.frontiersin.org\/journals\/neuroscience\/articles\/10.3389\/fnins.2025.1613797\/full?utm_source=chatgpt.com\">Frontiers<\/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>15q11-q13 duplication syndrome \u306f<strong>\u4e2d\u67a2\u795e\u7d4c\u767a\u9054\u7cfb\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u591a\u3044<\/strong>\u67d3\u8272\u4f53 CNV \u3067\u3001\u75c7\u72b6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p><strong>\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<\/strong><strong><br><\/strong>\u591a\u304f\u306e\u75c7\u4f8b\u3067\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u5ef6\uff08\u904b\u52d5\u30fb\u8a00\u8a9e\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong><strong><br><\/strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u6a5f\u80fd\u4f4e\u4e0b\u304c\u4e00\u822c\u7684\u3067\u3059\u304c\u3001\u91cd\u5ea6\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\uff08speech delay\uff09<\/strong><strong><br><\/strong>\u7279\u306b\u8868\u73fe\u8a00\u8a9e\u306e\u767a\u9054\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/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><strong><br><\/strong>\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u304c\u904b\u52d5\u9045\u5ef6\u3092\u52a9\u9577\u3059\u308b\u8981\u56e0\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u9045\u3044\u904b\u52d5\u767a\u9054\u3001\u5354\u8abf\u904b\u52d5\u306e\u8ab2\u984c\u306a\u3069\u304c\u4f75\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\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>Dup15q \u306f <strong>\u81ea\u9589\u75c7\u3068\u306e\u95a2\u9023\u304c\u5f37\u3044<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001ASD \u3092\u5448\u3059\u308b\u75c7\u4f8b\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u6bcd\u6027\u7531\u6765\u91cd\u8907\uff08maternal duplication\uff09\u3067\u306f ASD \u306e\u767a\u73fe\u7387\u304c\u9ad8\u3044\u3068\u3055\u308c\u3001<strong>penetrance\uff08\u767a\u73fe\u7387\uff09\u3082\u9ad8\u3044<\/strong>\u50be\u5411\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u7d0450%\u7a0b\u5ea6\u3068\u3044\u3046\u30c7\u30fc\u30bf\u3082\u3042\u308a\u307e\u3059\uff09\u3002 (<a href=\"https:\/\/www.frontiersin.org\/journals\/neuroscience\/articles\/10.3389\/fnins.2025.1613797\/full?utm_source=chatgpt.com\">Frontiers<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3066\u3093\u304b\u3093\u30fb\u75d9\u6523<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u672c\u75c7\u5019\u7fa4\u3067<strong>\u983b\u5ea6\u304c\u9ad8\u3044\u5408\u4f75\u75c7<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002 \u7279\u306b <strong>\u70b9\u982d\u3066\u3093\u304b\u3093\uff08infantile spasms\uff09<\/strong> \u306a\u3069\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/grj.umin.jp\/grj\/m_dup15q.htm?utm_source=chatgpt.com\">GRJ UMIN<\/a>)<\/li>\n\n\n\n<li>\u767a\u4f5c\u306e\u578b\u306f\u591a\u69d8\u3067\u3001\u91cd\u7a4d\u72b6\u614b\u3092\u5448\u3059\u308b\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u795e\u7d4c\u79d1\u3067\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u884c\u52d5\u30fb\u60c5\u7dd2\u9762\u306e\u8ab2\u984c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\u3001\u6ce8\u610f\u6b20\u5982\u3001\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3001\u884c\u52d5\u306e\u53cd\u5fa9\u6027\u306a\u3069\u884c\u52d5\u9762\u306e\u554f\u984c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/grj.umin.jp\/grj\/m_dup15q.htm?utm_source=chatgpt.com\">GRJ UMIN<\/a>)<\/li>\n\n\n\n<li>\u4e0d\u5b89\u611f\u3084\u523a\u6fc0\u306b\u5bfe\u3059\u308b\u904e\u654f\u6027\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7279\u7570\u7684\u306a\u9854\u8c8c\u7570\u5e38\uff08\u4f8b\uff1a\u4e0a\u5411\u304d\u9f3b\u3001\u5185\u773c\u89d2\u8d05\u76ae\u3001\u773c\u77bc\u88c2\u659c\u4e0b\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/grj.umin.jp\/grj\/m_dup15q.htm?utm_source=chatgpt.com\">GRJ UMIN<\/a>)<\/li>\n\n\n\n<li>\u5185\u81d3\u5947\u5f62\u306a\u3069\u306f\u5178\u578b\u7684\u306a\u6240\u898b\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u500b\u3005\u306e\u75c7\u4f8b\u306b\u3088\u308a\u8ffd\u52a0\u306e\u8eab\u4f53\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>15q11-q13 duplication syndrome \u306e\u539f\u56e0\u306f\u300115\u756a\u67d3\u8272\u4f53\u306e 15q11-q13 \u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3001\u8a72\u5f53\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09\u3067\u3059\u3002 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dup15q?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>15q11-q13 \u9818\u57df\u306f<strong>\u591a\u304f\u306e\u4f4e\u30b3\u30d4\u30fc\u30ea\u30d4\u30fc\u30c8\uff08LCR\uff09\u914d\u5217<\/strong>\u3092\u542b\u3080\u305f\u3081\u3001\u975e\u30a2\u30ec\u30eb\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09\u306b\u3088\u3063\u3066\u6b20\u5931\u30fb\u91cd\u8907\u304c\u53cd\u5fa9\u7684\u306b\u8d77\u3053\u308a\u3084\u3059\u3044\u201c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u201d\u3067\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/1422-0067\/24\/21\/15818?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u907a\u4f1d\u5b50\uff08<strong>UBE3A<\/strong> \u306a\u3069\uff09\u3084\u795e\u7d4c\u7cfb\u6a5f\u80fd\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c <strong>\u904e\u5270\u767a\u73fe\u3059\u308b\u3053\u3068<\/strong>\u3067\u795e\u7d4c\u767a\u9054\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dup15q?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>\u91cd\u8907\u304c\u6bcd\u6027\u7531\u6765\uff08maternal duplication\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u6bcd\u6027\u7279\u7570\u7684\u306b\u767a\u73fe\u3059\u308b\u907a\u4f1d\u5b50\uff08\u4f8b\uff1aUBE3A\uff09\u304c\u4e09\u30b3\u30d4\u30fc\u4ee5\u4e0a\u306b\u306a\u308a\u3001\u5f71\u97ff\u304c\u5927\u304d\u304f\u306a\u308b\u3068\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.frontiersin.org\/journals\/neuroscience\/articles\/10.3389\/fnins.2025.1613797\/full?utm_source=chatgpt.com\">Frontiers<\/a>)<\/li>\n\n\n\n<li>\u7236\u6027\u7531\u6765\u306e\u91cd\u8907\u3067\u3082\u767a\u75c7\u306f\u3042\u308a\u3048\u307e\u3059\u304c\u3001\u75c7\u72b6\u306f<strong>\u6bd4\u8f03\u7684\u8efd\u5ea6<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u6587\u732e\u3067\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.frontiersin.org\/journals\/neuroscience\/articles\/10.3389\/fnins.2025.1613797\/full?utm_source=chatgpt.com\">Frontiers<\/a>)<\/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\u6642\u70b9\u3067 <strong>15q11-q13 duplication syndrome<\/strong> \u306e\u300c\u67d3\u8272\u4f53\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u6cbb\u7642\u300d\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u75c7\u72b6\u3054\u3068\u306e\u7ba1\u7406\u30fb\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3\u306b\u306f\u65e9\u671f\u7642\u80b2\uff08\u65e9\u671f\u4ecb\u5165\u30d7\u30ed\u30b0\u30e9\u30e0\uff09\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u591a\u8077\u7a2e\u306e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u652f\u63f4\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3066\u3093\u304b\u3093\u30fb\u795e\u7d4c\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f<strong>\u6297\u3066\u3093\u304b\u3093\u85ac<\/strong>\u306e\u9069\u5207\u306a\u9078\u629e\u30fb\u6295\u4e0e\u306b\u3088\u308a\u767a\u4f5c\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u79d1\u5c02\u9580\u533b\u306b\u3088\u308b\u8a55\u4fa1\u3068\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>ASD\u30fb\u884c\u52d5\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ASD \u3078\u306e\u5bfe\u5fdc\u3068\u3057\u3066\u3001<strong>\u884c\u52d5\u7642\u6cd5<\/strong>\u3001\u793e\u4f1a\u6027\u30b9\u30ad\u30eb\u8a13\u7df4\u3001\u9069\u5fdc\u884c\u52d5\u652f\u63f4\u306a\u3069\u304c\u53d6\u308a\u5165\u308c\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>ADHD \u3084\u4e0d\u5b89\u75c7\u72b6\u304c\u5408\u4f75\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u6cbb\u7642\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5065\u5eb7\u7ba1\u7406\u30fb\u5408\u4f75\u75c7\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8eab\u4f53\u5408\u4f75\u75c7\uff08\u4f8b\uff1a\u6d88\u5316\u75c7\u72b6\u306a\u3069\uff09\u304c\u3042\u308b\u5834\u5408\u306f\u5185\u79d1\u30fb\u5c02\u9580\u79d1\u3068\u306e\u9023\u643a\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30fb\u6804\u990a\u30fb\u7761\u7720\u306e\u7ba1\u7406\u3082\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3046\u3048\u3067\u91cd\u8981\u3067\u3059\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>\u672c\u75c7\u5019\u7fa4\u306f <strong>\u91cd\u8907\u306e\u7531\u6765\uff08\u6bcd\u6027\uff0f\u7236\u6027\uff09\u306b\u3088\u3063\u3066\u4e88\u5f8c\u3084\u75c7\u72b6\u304c\u7570\u306a\u308b<\/strong>\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80ce\u5150\u671f\u306b NIPS \u3084\u7f8a\u6c34\u691c\u67fb\u3067\u691c\u51fa\u3055\u308c\u305f\u5834\u5408\u3001\u4e88\u5f8c\u306e\u5e45\u3084\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u3064\u3044\u3066\u60c5\u5831\u63d0\u4f9b\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.frontiersin.org\/journals\/neuroscience\/articles\/10.3389\/fnins.2025.1613797\/full?utm_source=chatgpt.com\">Frontiers<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>15q11-q13 duplication syndrome (BP1-BP3)<\/strong> \u306f\u3001\u67d3\u8272\u4f53 15 \u306e\u9577\u8155 q11-q13 \u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u3063\u3066\u751f\u3058\u308b <strong>\u795e\u7d4c\u767a\u9054\u7570\u5e38\u75c7\u5019\u7fa4<\/strong> \u3067\u3042\u308a\u3001\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066 <strong>\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u3001\u8a00\u8a9e\u9045\u5ef6\u3001\u3066\u3093\u304b\u3093<\/strong> \u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u91cd\u8907\u304c <strong>\u6bcd\u6027\u7531\u6765<\/strong> \u306e\u5834\u5408\u3001\u75c7\u72b6\u306e\u767a\u73fe\u7387\u3084\u91cd\u75c7\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306f\u6839\u672c\u7684\u306a\u4fee\u5fa9\u624b\u6bb5\u306f\u306a\u304f\u3001<strong>\u591a\u9818\u57df\u306b\u308f\u305f\u308b\u652f\u6301\u7642\u6cd5\u30fb\u75c7\u72b6\u5bfe\u5fdc<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/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>\u201cDup15q\u201d \u2014 15q11.2-q13.1 duplication syndrome \u306e\u57fa\u672c\u60c5\u5831\u3068\u75c7\u72b6\u6982\u8981\uff0827q11-q13 duplication syndrome \u3092\u542b\u3080\u4e00\u822c\u60c5\u5831\uff09 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dup15q?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>Bisba M \u3089\u3001\u201cChromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases\u201d \u2014 \u767a\u9054\u969c\u5bb3\u30fb\u4f4e\u7b4b\u7dca\u5f35\u30fbASD \u306a\u3069\u306e\u95a2\u9023\u6027\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11507414\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>Rare Chromosome 15q11-q13 Duplications FTNW report \u2014 \u91cd\u8907\u306e\u4e00\u822c\u7684\u6a5f\u5e8f\u3068\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2015\/15q11q13%20duplications%20FTNW.pdf?utm_source=chatgpt.com\">rarechromo.org<\/a>)<\/li>\n\n\n\n<li>Frontiers in Neuroscience (2025) Wu K \u3089 \u2014 Dup15q \u306e\u6bcd\u6027\uff0f\u7236\u6027\u7531\u6765\u306e\u5dee\u3068\u81e8\u5e8a\u50cf\u306e\u89e3\u8aac\u3002 (<a href=\"https:\/\/www.frontiersin.org\/journals\/neuroscience\/articles\/10.3389\/fnins.2025.1613797\/full?utm_source=chatgpt.com\">Frontiers<\/a>)<\/li>\n\n\n\n<li>Paparella A \u3089\u3001\u201cStructural variation evolution at the 15q11-q13 disease locus\u201d \u2014 \u914d\u5217\u4e0d\u5b89\u5b9a\u6027\u3068\u95a2\u9023 CNV \u306e\u5f71\u97ff\u3002 (<a href=\"https:\/\/www.mdpi.com\/1422-0067\/24\/21\/15818?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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