{"id":16566,"date":"2026-01-19T04:04:04","date_gmt":"2026-01-19T04:04:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16566"},"modified":"2026-01-20T02:23:11","modified_gmt":"2026-01-20T02:23:11","slug":"11p13-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/11p13-duplication-syndrome\/","title":{"rendered":"11p13 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>11p13 \u91cd\u8907\u75c7\u5019\u7fa4\uff0811\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306ep13\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308b\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li>11p13 microduplication\uff0811p13 \u30df\u30af\u30ed\u91cd\u8907\uff09<\/li>\n\n\n\n<li>11p13 CNV\uff08Copy Number Variation; 11p13\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u672c\u75be\u60a3\u306f\u67d3\u8272\u4f53\u9818\u57df\u306e <strong>\u91cd\u8907\uff08duplication\uff09<\/strong> \u306b\u3088\u308b\u3082\u306e\u3067\u3001\u5f93\u6765\u3088\u304f\u7814\u7a76\u3055\u308c\u3066\u3044\u308b <strong>11p13\u6b20\u5931\u75c7\u5019\u7fa4\uff08WAGR\u75c7\u5019\u7fa4\uff09<\/strong> \u3068\u306f\u6a5f\u5e8f\u30fb\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6b20\u5931\u3068\u306f\u9006\u306b\u67d3\u8272\u4f53\u9818\u57df\u304c <strong>\u30b3\u30d4\u30fc\u5897\u52a0<\/strong> \u3059\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u304c\u5897\u3048\u308b\u5f71\u97ff\u3067\u75c7\u72b6\u304c\u51fa\u73fe\u3059\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<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 \u77ed\u8155\uff08p\uff0913\u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u72b6\u614b\uff0811p13 duplication\uff09<\/strong>\u3002<br>\u3053\u306e\u91cd\u8907\u306f\u5fae\u7d30\u306a\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08<strong>microduplication<\/strong>\uff09\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u901a\u5e38 <strong>\u6570\u767ekb\u301c\u6570Mb<\/strong> \u306e\u7bc4\u56f2\u306b\u6e21\u3063\u3066\u67d3\u8272\u4f53\u9818\u57df\u304c <strong>\u672c\u67651\u30b3\u30d4\u30fc\u3067\u3042\u308b\u3068\u3053\u308d\u30922\u30b3\u30d4\u30fc\u4ee5\u4e0a\uff08\u91cd\u8907\uff09<\/strong> \u3057\u3066\u3044\u308b\u69cb\u9020\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e11p13\u9818\u57df\u306f\u773c\u3084\u814e\u81d3\u3001\u795e\u7d4c\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u90e8\u4f4d\u3068\u3057\u3066\u77e5\u3089\u308c\uff08\u6b20\u5931\u3067\u306fWAGR\u75c7\u5019\u7fa4\u306b\u95a2\u9023\uff09\u307e\u3059\u304c\u3001\u91cd\u8907\u306b\u3088\u3063\u3066\u306f <strong>Silver\u2013Russell\u75c7\u5019\u7fa4\u69d8\u306e\u8868\u73fe\u578b\u3084\u767a\u9054\u7570\u5e38<\/strong> \u306a\u3069\u591a\u69d8\u306a\u81e8\u5e8a\u50cf\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10941370\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>11p13 duplication <strong>\u305d\u306e\u3082\u306e\u304c\u7a00\u306a\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001\u6b20\u5931\uff08WAGR\u75c7\u5019\u7fa4\uff09\u306e\u3088\u3046\u306b\u591a\u6570\u4f8b\u304c\u5831\u544a\u3055\u308c\u305f\u75be\u60a3\u3068\u306f\u7570\u306a\u308a\u3001\u91cd\u8907\u75c7\u4f8b\u306f <strong>\u6bd4\u8f03\u7684\u5c11\u6570\u3067\u3042\u308a\u983b\u5ea6\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002<br>\u907a\u4f1d\u5b50\u91cd\u8907\u75c7\u5019\u7fa4\u5168\u822c\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u75be\u60a3\uff09\u306f <strong>\u5e0c\u5c11\u306a\u30b3\u30d4\u30fc\u6570\u5909\u7570\u75be\u60a3\uff08rare copy number variant\uff09<\/strong> \u3068\u8003\u3048\u3089\u308c\u3001\u3057\u3070\u3057\u3070 <strong>\u65b0\u751f\u5909\u7570\uff08de novo\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002<br>11p13\u91cd\u8907\u306b\u3064\u3044\u3066\u306f\u5358\u72ec\u75be\u60a3\u306e\u75ab\u5b66\u30c7\u30fc\u30bf\u306f\u5b58\u5728\u305b\u305a\u3001\u75c7\u4f8b\u5831\u544a\u30d9\u30fc\u30b9\u3067\u305d\u306e\u5b58\u5728\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10941370\/?utm_source=chatgpt.com\">PMC<\/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>11p13\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f <strong>\u91cd\u8907\u3055\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3084\u91cd\u8907\u9818\u57df\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5909\u52d5<\/strong>\u3057\u307e\u3059\u304c\u3001\u75c7\u4f8b\u5831\u544a\u304b\u3089\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1) \u767a\u9054\u30fb\u795e\u7d4c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08global developmental delay\uff09<\/strong>\uff1a\u904b\u52d5\u30fb\u8a00\u8a9e\u30fb\u793e\u4f1a\u7684\u306a\u767a\u9054\u304c\u901a\u5e38\u767a\u9054\u3088\u308a\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3<\/strong>\uff1a\u91cd\u5ea6\u304b\u3089\u8efd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\u77e5\u80fd\u767a\u9054\u306e\u5f71\u97ff\u304c\u307f\u3089\u308c\u308b\u53ef\u80fd\u6027\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7570\u5e38\u30fb\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u69d8\u8868\u73fe\u578b<\/strong>\uff1a\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u50be\u5411\u306a\u3069\u884c\u52d5\u9762\u306e\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308b\u3002<br>\u3053\u308c\u3089\u306f <strong>\u91cd\u8907\u306b\u3088\u3063\u3066\u907a\u4f1d\u5b50\u767a\u73fe\u91cf\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u795e\u7d4c\u56de\u8def\u5f62\u6210\u306b\u5f71\u97ff\u304c\u51fa\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10941370\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2) \u9854\u8c8c\u30fb\u4f53\u683c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Silver\u2013Russell\u75c7\u5019\u7fa4\uff08SRS\uff09\u69d8\u306e <strong>\u4f4e\u8eab\u9577\u3001\u4f53\u91cd\u4e0d\u8db3\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong> \u304c\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f11p13\u9818\u57df\u306e\u91cd\u8907\u304c <strong>SRS\u95a2\u9023\u8868\u73fe\u578b\u3068\u306e\u9451\u5225\u8a3a\u65ad\u306b\u306a\u308b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5177\u4f53\u4f8b\u3068\u3057\u3066\u9577\u3044\u9854\u3001\u72ed\u3044\u984e\u3001\u4f4e\u6804\u990a\u72b6\u614b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10941370\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u9854\u8c8c\u7570\u5e38\u306a\u3069\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u51fa\u73fe\u3059\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u91cd\u8907\u90e8\u4f4d\u3084\u80cc\u666f\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u305d\u306e\u4ed6\u8eab\u4f53\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u5ef6\u306b\u3068\u3082\u306a\u3063\u3066 <strong>\u7b4b\u7dca\u5f35\u7570\u5e38\uff08\u4f4e\u7dca\u5f35 \/ hypotonia\uff09<\/strong> \u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u300111p13\u91cd\u8907\u5358\u72ec\u3067\u5fc5\u305a\u51fa\u308b\u75c7\u72b6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u306f\u6210\u9577\u3001\u4ee3\u8b1d\u306a\u3069\u306b\u5f71\u97ff\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<br>\u306a\u304a\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u3057\u3070\u3057\u3070 <strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3084\u9aa8\u683c\u7570\u5e38<\/strong> \u306a\u3069\u591a\u81d3\u5668\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u300111p13\u91cd\u8907\u3067\u3082\u95a2\u9023\u3059\u308b\u5668\u5b98\u7cfb\u306e\u5f71\u97ff\u304c\u3042\u308b\u53ef\u80fd\u6027\u3092\u5ff5\u982d\u306b\u7f6e\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/blog.nipt-geneplanet.com\/en\/deletion-and-duplication-syndromes\/?utm_source=chatgpt.com\">NIFTY by GenePlanet<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>11p13 duplication syndrome \u306e\u4e3b\u306a\u539f\u56e0\u306f <strong>\u67d3\u8272\u4f5311\u306ep13\u90e8\u4f4d\u306e\u4e00\u90e8\u304c\u672c\u67651\u30b3\u30d4\u30fc\u3067\u3042\u308b\u9818\u57df\u306b\u5bfe\u3057\u3066\u8ffd\u52a0\u30b3\u30d4\u30fc\uff08\u91cd\u8907\uff09\u304c\u751f\u3058\u308b\u3053\u3068<\/strong>\u3067\u3059\u3002<br>\u3053\u308c\u306f <strong>\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08Copy Number Variation: CNV\uff09<\/strong> \u306e\u4e00\u7a2e\u3067\u3001DNA\u306e\u7279\u5b9a\u9818\u57df\u304c <strong>2\u30b3\u30d4\u30fc\u3088\u308a\u591a\u304f\u306a\u308b\uff08\u901a\u5e38\u306f3\u30b3\u30d4\u30fc\u4ee5\u4e0a\uff09<\/strong> \u3053\u3068\u306b\u3088\u308a\u3001\u305d\u306e\u9818\u57df\u306b\u5b58\u5728\u3059\u308b\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u304c\u5897\u52a0\u3059\u308b\u7d50\u679c\u3068\u3057\u3066\u3001\u767a\u9054\u3084\u6a5f\u80fd\u306b\u7570\u5e38\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10941370\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u91cd\u8907\u306f\u3001\u591a\u304f\u306e\u5834\u5408 <strong>de novo\uff08\u65b0\u751f\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u3001\u4e21\u89aa\u306b\u306f\u540c\u3058\u91cd\u8907\u304c\u306a\u3044\u5834\u5408\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u307e\u308c\u306b\u5bb6\u65cf\u6027\u306b\u907a\u4f1d\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u70b9\u306f\u500b\u5225\u306e\u75c7\u4f8b\u3054\u3068\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u8a55\u4fa1\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u5177\u4f53\u7684\u5f71\u97ff\u306b\u3064\u3044\u3066\u7814\u7a76\u306f\u9032\u884c\u4e2d\u3067\u3059\u304c\u300111p13\u9818\u57df\u306f <strong>\u795e\u7d4c\u767a\u9054\u3084\u6210\u9577\u95a2\u9023\u907a\u4f1d\u5b50\u3092\u542b\u3080\u90e8\u4f4d<\/strong> \u3067\u3042\u308a\u3001\u6b20\u5931\u3067\u306fWAGR\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u9818\u57df\u3067\u3082\u3042\u308b\u3053\u3068\u304b\u3089\u3001\u91cd\u8907\u3067\u3082\u767a\u9054\u30fb\u8eab\u4f53\u8868\u73fe\u578b\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10941370\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u6cbb\u7642\u30fb\u7ba1\u7406\uff09<\/strong><\/h2>\n\n\n\n<p>11p13 duplication syndrome \u306b\u306f <strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002\u91cd\u8907\u75c7\u5019\u7fa4\u5168\u822c\u306e\u65b9\u91dd\u3068\u3057\u3066\u306f <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1) \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\u904b\u52d5\u767a\u9054\u306e\u4fc3\u9032\u3001\u7b4b\u7dca\u5f35\u7570\u5e38\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u9045\u5ef6\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u56f0\u96e3\u306b\u5bfe\u3059\u308b\u4ecb\u5165<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u6280\u80fd\u3084\u611f\u899a\u7d71\u5408\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f <strong>\u65e9\u671f\u4ecb\u5165\u304c\u4e88\u5f8c\u6539\u5584\u306b\u5bc4\u4e0e\u3059\u308b<\/strong> \u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2) \u884c\u52d5\u30fb\u5b66\u7fd2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u6b8a\u6559\u80b2\u30fb\u884c\u52d5\u7642\u6cd5<\/strong>\uff1a\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3084\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306e\u884c\u52d5\u9762\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\uff0f\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u672c\u4eba\u304a\u3088\u3073\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u8ca0\u62c5\u3078\u306e\u5bfe\u5fdc<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u533b\u7642\u7684\u8a55\u4fa1\u30fb\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u7d4c\u904e\u3084\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u533b\u7642\u7684\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8eab\u4f53\u7684\u7570\u5e38\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u5404\u5c02\u9580\u79d1\uff08\u5fc3\u81d3\u3001\u6210\u9577\u30fb\u5185\u5206\u6ccc\u3001\u6574\u5f62\u306a\u3069\uff09\u3067\u306e\u8a55\u4fa1\u30fb\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4) \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u8907\u9818\u57df\u306e\u89e3\u91c8\u304a\u3088\u3073\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1<\/strong> \u306e\u305f\u3081\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6027\u306e\u30b3\u30d4\u30fc\u6570\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u8a55\u4fa1\u3082\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>11p13 duplication syndrome \u306f <strong>11\u756a\u67d3\u8272\u4f53\u77ed\u8155 p13 \u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u306b\u3088\u308b\u7a00\u306a\u67d3\u8272\u4f53\u91cd\u8907\u75c7\u5019\u7fa4<\/strong>\u3067\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u3084 SRS\u69d8\u8868\u73fe\u578b\u306a\u3069\u3092\u793a\u3059\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u539f\u56e0\u306f\u67d3\u8272\u4f53\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\uff08\u91cd\u8907\uff09\u3067\u3042\u308a\u3001\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u305f\u3081\u3001<strong>\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u652f\u6301\u7642\u6cd5\u3068\u5305\u62ec\u7684\u652f\u63f4<\/strong>\u304c\u6cbb\u7642\u306e\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>11p13 microduplication: a differential diagnosis of Silver\u2013Russell related phenotypes\uff08\u75c7\u4f8b\u5831\u544a\uff09 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10941370\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>11p13 microduplication\u75c7\u4f8b\u306b\u95a2\u3059\u308b\u5225\u5831\u544a (<a href=\"https:\/\/www.researchgate.net\/publication\/378967539_11p13_microduplication_a_differential_diagnosis_of_Silver-Russell_syndrome?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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