{"id":17137,"date":"2026-01-21T07:09:59","date_gmt":"2026-01-21T07:09:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17137"},"modified":"2026-01-21T07:09:59","modified_gmt":"2026-01-21T07:09:59","slug":"5q35-duplication","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/5q35-duplication\/","title":{"rendered":"5q35 duplication"},"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>\u9006\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Reverse Sotos syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306e\u6700\u3082\u91cd\u8981\u306a\u5225\u540d\u3067\u3059\u3002\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff085q35\u6b20\u5931\uff09\u3068\u907a\u4f1d\u5b66\u7684\u306b\u300c\u93e1\u5408\u308f\u305b\u300d\u306e\u95a2\u4fc2\u306b\u3042\u308a\u3001\u75c7\u72b6\u3082\u5bfe\u7167\u7684\uff08\u4f4e\u8eab\u9577\u30fb\u5c0f\u982d\u306a\u3069\uff09\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3053\u3046\u547c\u3070\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>5q35\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff085q35 microduplication syndrome\uff09<\/li>\n\n\n\n<li>5q35.2-q35.3\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>NSD1\u91cd\u8907\u75c7\u5019\u7fa4\uff08NSD1 duplication syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>NSD1<\/em>\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>5q35\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 5q35\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Sotos syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u3058\u9818\u57df\u304c\u300c\u6b20\u5931\u300d\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\u30fb\u5927\u982d\uff09\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30cf\u30f3\u30bf\u30fc\u30fb\u30de\u30ab\u30eb\u30d1\u30a4\u30f3\u75c7\u5019\u7fa4\uff08Hunter-McAlpine syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u304b\u3064\u30665q35\u91cd\u8907\u306b\u95a2\u9023\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u75be\u60a3\u6982\u5ff5\u3067\u3059\u304c\u3001\u73fe\u5728\u306f\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>5\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0935\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e5\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c35\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff08\u7279\u306b5q35.2\u304b\u30895q35.3\uff09\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>5q35\u9818\u57df\u306e\u91cd\u8907\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u591a\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u6c7a\u5b9a\u7684\u306a\u539f\u56e0\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aNSD1\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NSD1 (Nuclear Receptor Binding SET Domain Protein 1):<\/strong> 5q35.3\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30f3\u30fb\u30aa\u30d5\u3059\u308b\u300c\u30d2\u30b9\u30c8\u30f3\u30e1\u30c1\u30eb\u5316\u9175\u7d20\u300d\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u80ce\u5150\u671f\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u3001\u3044\u308f\u3070\u300c\u6210\u9577\u306e\u53f8\u4ee4\u5854\u300d\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u8db3\uff08\u6b20\u5931\uff09:<\/strong> <em>NSD1<\/em>\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u3001\u4f53\u3084\u982d\u304c\u5927\u304d\u304f\u306a\u308b\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904e\u5270\uff08\u91cd\u8907\uff09:<\/strong> <em>NSD1<\/em>\u304c\u5897\u3048\u3059\u304e\u308b\u3068\uff08\u672c\u75be\u60a3\uff09\u3001\u6210\u9577\u6291\u5236\u306e\u30b7\u30b0\u30ca\u30eb\u304c\u904e\u5270\u306b\u306a\u308a\u3001**\u300c\u4f4e\u8eab\u9577\u300d<strong>\u3084<\/strong>\u300c\u5c0f\u982d\u75c7\u300d**\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u300c\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u3044\u3051\u306a\u3044\u300d\u3068\u3044\u3046\u73fe\u8c61\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u304c\u3001\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5bfe\u3068\u306a\u308b\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u300d\u306f\u51fa\u751f10,000\u301c14,000\u4eba\u306b1\u4eba\u3068\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u304c\u30015q35\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5831\u544a\u6570\u306f\u305d\u308c\u3088\u308a\u3082\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u75be\u60a3\u304c\u5b58\u5728\u3057\u306a\u3044\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u975e\u7279\u7570\u6027:<\/strong> \u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u300c\u904e\u6210\u9577\u300d\u306f\u76ee\u7acb\u3061\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\u306e\u300c\u4f4e\u8eab\u9577\u300d\u3084\u300c\u5c0f\u982d\u75c7\u300d\u306f\u3001\u4ed6\u306e\u591a\u304f\u306e\u75be\u60a3\u3067\u3082\u898b\u3089\u308c\u308b\u4e00\u822c\u7684\u306a\u75c7\u72b6\u3067\u3042\u308b\u305f\u3081\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306b\u81f3\u3089\u305a\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u7279\u767a\u6027\u4f4e\u8eab\u9577\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u91cd\u8907\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u767a\u898b\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/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>5q35 duplication\u306e\u75c7\u72b6\u306f\u3001**\u300c\u4f4e\u8eab\u9577\u300d\u300c\u5c0f\u982d\u75c7\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u300c\u771f\u9006\u300d**\u306e\u81e8\u5e8a\u50cf\u3092\u793a\u3059\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u969c\u5bb3\u30fb\u4f53\u683c\uff08Growth failure\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u9855\u8457\u306a\u7279\u5fb4<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u6642\u306e\u4f53\u683c\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u6210\u9577\u7387\u304c\u4f4e\u4e0b\u3057\u3001\u8eab\u9577\u304c\u5e73\u5747\u3092\u5927\u304d\u304f\u4e0b\u56de\u308b\uff08-2SD\u4ee5\u4e0b\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08\u9ad8\u8eab\u9577\uff09\u300d\u306e\u9006\u306e\u73fe\u8c61\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u304f\u3001\u304a\u3067\u3053\u304c\u72ed\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3082\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08\u5927\u982d\u75c7\u30fb\u7a81\u51fa\u3057\u305f\u984d\uff09\u300d\u306e\u9006\u306e\u73fe\u8c61\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f53\u91cd\u5897\u52a0\u4e0d\u826f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u306b\u54fa\u4e73\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u98df\u304c\u7d30\u304b\u3063\u305f\u308a\u3057\u3066\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\uff08Failure to thrive\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\uff08\u6642\u306b\u91cd\u5ea6\uff09\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09 \/ \u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001<strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6<\/strong>\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7372\u5f97\uff08\u7279\u306b\u767a\u8a9e\uff09\u3084\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u6a5f\u80fd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7c97\u5927\u904b\u52d5\uff08\u8d70\u308b\u30fb\u8df3\u3076\uff09\u3088\u308a\u3082\u3001\u5fae\u7d30\u904b\u52d5\uff08\u624b\u5148\u306e\u5668\u7528\u3055\uff09\u306b\u82e6\u624b\u3055\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u3001\u9006\u306b\u95a2\u7bc0\u304c\u786c\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u69d8\u306e\u884c\u52d5\uff08\u843d\u3061\u7740\u304d\u306e\u306a\u3055\uff09\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u653b\u6483\u6027\u3001\u6613\u523a\u6fc0\u6027\uff08\u6012\u308a\u3063\u307d\u3044\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u7279\u6027\uff08\u3053\u3060\u308f\u308a\u3001\u793e\u4f1a\u6027\u306e\u82e6\u624b\u3055\uff09\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u300d\u306e\u9762\u9577\u3067\u984e\u304c\u3057\u3083\u304f\u308c\u305f\u9854\u8c8c\u3068\u306f\u5bfe\u7167\u7684\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u3054\u4e21\u89aa\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c:<\/strong> \u5965\u307e\u3063\u305f\u76ee\uff08Deep-set eyes\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0a\uff08\u30c4\u30ea\u76ee\uff09\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u8584\u3044\u4e0a\u5507\u3001\u5c0f\u3055\u306a\u53e3\u3001\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3001\u5927\u304d\u306a\u8033\u305f\u3076\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u624b\u8db3\u30fb\u9aa8\u683c\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7\uff08Brachydactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u6307\u304c\u77ed\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u3055\u306a\u624b\u8db3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f53\u683c\u306b\u6bd4\u3057\u3066\u624b\u8db3\u304c\u5c0f\u3055\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306f\u5927\u304d\u306a\u624b\u8db3\u304c\u7279\u5fb4\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u3001\u5408\u6307\u75c7\u3001\u89aa\u6307\u306e\u4ed8\u3051\u6839\u306e\u7570\u5e38\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff08\u982d\u306e\u9aa8\u304c\u65e9\u304f\u9589\u3058\u3066\u3057\u307e\u3046\uff09\u306e\u5408\u4f75\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306e\u8efd\u5fae\u306a\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3001\u814e\u5947\u5f62\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>5\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\uff085q35\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1a\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09<\/strong><\/p>\n\n\n\n<p>5q35\u9818\u57df\u306b\u306f\u3001\u300cLCR\uff08Low Copy Repeats\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3001DNA\u306e\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\u304c\u8907\u6570\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7d30\u80de\u5206\u88c2\uff08\u6e1b\u6570\u5206\u88c2\uff09\u306e\u969b\u3001\u67d3\u8272\u4f53\u304c\u30da\u30a2\u3092\u4f5c\u3063\u3066\u60c5\u5831\u3092\u4ea4\u63db\u3057\u307e\u3059\u304c\u3001\u3053\u306e\u300c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\u300d\u306e\u305b\u3044\u3067\u3001\u30da\u30a2\u3092\u7d44\u3080\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306b\u306f\u300c\u6b20\u5931\uff08\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff09\u300d\u304c\u3001\u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306b\u306f\u300c\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09\u300d\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u30685q35\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u540c\u3058\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u8d77\u3053\u308b\u300c\u30b3\u30a4\u30f3\u306e\u88cf\u8868\u300d\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a\u91cd\u8981<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u3001\u672c\u75be\u60a3\u3067\u306f\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u7d0410\u301c30%\u3068\u3082\u8a00\u308f\u308c\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3001\u300c\u80cc\u304c\u4f4e\u304b\u3063\u305f\u300d\u300c\u52c9\u5f37\u304c\u82e6\u624b\u3060\u3063\u305f\u300d\u7a0b\u5ea6\u3067\u8a3a\u65ad\u3055\u308c\u305a\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u5834\u5408\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\u3084\u8efd\u75c7\u4f8b\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. NSD1\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u524d\u8ff0\u306e\u901a\u308a\u3001<em>NSD1<\/em>\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\uff081.5\u500d\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u6210\u9577\u3092\u4fc3\u9032\u3059\u308b\u306f\u305a\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7cfb\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u9006\u306b\u6210\u9577\u304c\u6291\u5236\u3055\u308c\u308b\u3068\u3044\u3046\u30d1\u30e9\u30c9\u30c3\u30af\u30b9\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u4f4e\u8eab\u9577\u300d\u300c\u5c0f\u982d\u75c7\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u304c\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u539f\u56e0\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u3001\u8a73\u7d30\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3063\u3066\u521d\u3081\u3066\u5224\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>5q35\u9818\u57df\u306e\u5fae\u7d30\u306a\u91cd\u8907\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>NSD1<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u300c\u9006\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u78ba\u5b9a\u8a3a\u65ad\u304c\u306a\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u5bb6\u65cf\u6027\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u4e21\u89aa\u306e\u691c\u67fb\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u89aa\u306b\u4f4e\u8eab\u9577\u3084\u5c0f\u982d\u75c7\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u6027\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\u306e\u539f\u56e0\u3068\u3057\u3066\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\uff085q35\u91cd\u8907\u3067\u306f\u3001\u30db\u30eb\u30e2\u30f3\u81ea\u4f53\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u53cd\u5fdc\u6027\u304c\u60aa\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\uff08\u7279\u306b\u4f4e\u8eab\u9577\u3068\u767a\u9054\uff09\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u80fd\u529b\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306b\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\u3092\u6e2c\u5b9a\u3057\u3001\u6210\u9577\u66f2\u7dda\u3092\u4f5c\u6210\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306b\u4f34\u3046\u4f4e\u8eab\u9577\u306b\u5bfe\u3057\u3066\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u304c\u6709\u52b9\u304b\u3069\u3046\u304b\u306f\u30b1\u30fc\u30b9\u30d0\u30a4\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5185\u5206\u6ccc\u5c02\u9580\u533b\u306b\u3088\u308b\u8ca0\u8377\u8a66\u9a13\u306e\u7d50\u679c\u3084\u3001SGA\u6027\u4f4e\u8eab\u9577\uff08\u304a\u8179\u306e\u4e2d\u3067\u5c0f\u3055\u304f\u751f\u307e\u308c\u305f\u3053\u3068\u306b\u3088\u308b\u4f4e\u8eab\u9577\uff09\u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u304b\u3069\u3046\u306b\u306a\u3069\u306b\u3088\u3063\u3066\u3001\u9069\u5fdc\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6804\u990a\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u304c\u3042\u308b\u5834\u5408\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3084\u6804\u990a\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u8a9e\u5f59\u3092\u5897\u3084\u3059\u8a13\u7df4\u3084\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u624b\u6bb5\uff08\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\uff09\u3092\u7fd2\u5f97\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b66\u6821\u751f\u6d3b\u3067\u306f\u3001\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u52d5\u4f5c\u6027\uff08\u624b\u5148\uff09\u3088\u308a\u3082\u8a00\u8a9e\u6027\uff08\u304a\u3057\u3083\u3079\u308a\uff09\u304c\u5f97\u610f\u306a\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u305d\u306e\u9006\u306e\u5834\u5408\u3082\u3042\u308a\u3001\u500b\u3005\u306e\u5f97\u610f\u4e0d\u5f97\u610f\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u5fc3\u7406\u9762\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u304c\u5f37\u3044\u5834\u5408\u3084\u3001ADHD\u306e\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u898b\u901a\u3057\u3092\u6301\u305f\u305b\u308b\u305f\u3081\u306e\u8996\u899a\u652f\u63f4\uff08\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u8868\uff09\u3084\u3001\u523a\u6fc0\u306e\u5c11\u306a\u3044\u74b0\u5883\u4f5c\u308a\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff08SST\uff09\u3092\u901a\u3058\u3066\u3001\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u306a\u5185\u81d3\u306e\u75c5\u6c17\u304c\u306a\u3051\u308c\u3070\u3001\u983b\u7e41\u306a\u901a\u9662\u306f\u4e0d\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u6642\u306b\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3084\u814e\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\u3001\u5947\u5f62\u304c\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b6f\u79d1\u691c\u8a3a\uff08\u6b6f\u306e\u751f\u3048\u5909\u308f\u308a\u3084\u866b\u6b6f\u4e88\u9632\uff09\u3082\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u9006\u300d\u3068\u3044\u3046\u6982\u5ff5\u306f\u7406\u89e3\u3057\u3084\u3059\u3044\u53cd\u9762\u3001\u60c5\u5831\u304c\u6df7\u5728\u3057\u3066\u6df7\u4e71\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u75be\u60a3\u7279\u6709\u306e\u4e88\u5f8c\uff08\u4e00\u822c\u7684\u306b\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3088\u308a\u3082\u5065\u5eb7\u4e0a\u306e\u5408\u4f75\u75c7\u306f\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308b\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u81ea\u5206\u3092\u8cac\u3081\u306a\u3044\u3088\u3046\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\u89aa\u81ea\u8eab\u304c\u793e\u4f1a\u9069\u5fdc\u3067\u304d\u3066\u3044\u308b\u4e8b\u5b9f\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u306b\u3068\u3063\u3066\u306e\u5e0c\u671b\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>5q35 duplication\uff08\u9006\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u4f53\u306e\u6210\u9577\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u300cNSD1\u907a\u4f1d\u5b50\u300d\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u751f\u307e\u308c\u305f\u6642\u304b\u3089\u4f53\u304c\u5c0f\u3055\u3081\u3067\u3001\u982d\u306e\u30b5\u30a4\u30ba\u3082\u5c0f\u3055\u304f\u3001\u3086\u3063\u304f\u308a\u3068\u6210\u9577\u3057\u3066\u3044\u304f\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08\u904e\u6210\u9577\uff09\u300d\u3068\u306f\u771f\u9006\u306e\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001\u300c\u9006\u30bd\u30c8\u30b9\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u67d3\u8272\u4f53\u306e\u4e0d\u601d\u8b70\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u8eab\u9577\u304c\u4f38\u3073\u306a\u3044\u3053\u3068\u3084\u3001\u8a00\u8449\u306e\u9045\u308c\u306f\u5927\u304d\u306a\u5fc3\u914d\u4e8b\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306b\u4f34\u3046\u91cd\u7be4\u306a\u5185\u81d3\u306e\u75c5\u6c17\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u547d\u306b\u95a2\u308f\u308b\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u8eab\u9577\u306b\u95a2\u3057\u3066\u306f\u3001\u5185\u5206\u6ccc\u79d1\u3067\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u6804\u990a\u72b6\u614b\u3092\u6574\u3048\u305f\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6cbb\u7642\u3092\u691c\u8a0e\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u30b5\u30dd\u30fc\u30c8\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u3001\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u7740\u5b9f\u306b\u3067\u304d\u308b\u3053\u3068\u306f\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3053\u306e\u91cd\u8907\u306f\u89aa\u5fa1\u3055\u3093\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u300c\u304a\u7236\u3055\u3093\u3084\u304a\u6bcd\u3055\u3093\u3082\u5c0f\u67c4\u3060\u3051\u3069\u5143\u6c17\u300d\u3068\u3044\u3046\u3088\u3046\u306b\u3001\u4f53\u8cea\u7684\u306a\u500b\u6027\u3068\u3057\u3066\u6349\u3048\u308b\u3053\u3068\u3082\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306f\u3001\u7e4a\u7d30\u3067\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u9762\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5b89\u5fc3\u3067\u304d\u308b\u74b0\u5883\u304c\u3042\u308c\u3070\u3001\u30cb\u30b3\u30cb\u30b3\u3068\u3057\u305f\u7b11\u9854\u3092\u898b\u305b\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u5185\u5206\u6ccc\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Dikow, N., et al.<\/strong> (2013). <em>Quantification of the NSD1 gene copy number in patients with Sotos syndrome-like phenotype and 5q35 microduplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b5q35\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u3001NSD1\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u304c\u300c\u9006\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u300d\u306e\u8868\u73fe\u578b\uff08\u4f4e\u8eab\u9577\u3001\u5c0f\u982d\u75c7\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u660e\u78ba\u306b\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Rosenfeld, J.A., et al.<\/strong> (2013). <em>The clinical spectrum of 5q35.3 microduplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e5q35.3\u91cd\u8907\u75c7\u4f8b\u3092\u96c6\u7a4d\u3057\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u767a\u9054\u9045\u6ede\u3001\u4f4e\u8eab\u9577\u3001\u884c\u52d5\u7279\u6027\u306a\u3069\uff09\u3068\u91cd\u8907\u7bc4\u56f2\u306e\u95a2\u9023\u3092\u89e3\u6790\u3057\u305f\u5927\u898f\u6a21\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zhang, X., et al.<\/strong> (2011). <em>5q35.3 microduplication syndrome: A distinct clinical entity with reciprocal phenotype to Sotos syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b5q35.3\u91cd\u8907\u304c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u5bfe\u7167\u7684\u306a\u8868\u73fe\u578b\u3092\u6301\u3064\u72ec\u7acb\u3057\u305f\u75be\u60a3\u5358\u4f4d\u3067\u3042\u308b\u3053\u3068\u3092\u63d0\u5531\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>5q35 microduplications<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u9006\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3001\u6210\u9577\u306e\u898b\u901a\u3057\u3001\u767a\u9054\u652f\u63f4\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Franco, L.M., et al.<\/strong> (2010). <em>Dosage effect of the NSD1 gene: 5q35 microduplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bNSD1\u907a\u4f1d\u5b50\u306e\u7528\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001\u6b20\u5931\u3068\u91cd\u8907\u304c\u6210\u9577\u3084\u8133\u767a\u9054\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u8003\u5bdf\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17137","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\/17137","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\/17137\/revisions"}],"predecessor-version":[{"id":17139,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17137\/revisions\/17139"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17137"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}