{"id":17099,"date":"2026-01-21T06:31:29","date_gmt":"2026-01-21T06:31:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17099"},"modified":"2026-01-22T08:33:53","modified_gmt":"2026-01-22T08:33:53","slug":"5q31-3-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/5q31-3-microdeletion-syndrome\/","title":{"rendered":"5q31.3 microdeletion 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>5q35\u91cd\u8907\u75c7\u5019\u7fa4\uff085q35 duplication syndrome\uff09<\/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\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 5q35\uff09<\/li>\n\n\n\n<li>\u9006\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Reverse Sotos syndrome\uff09\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\u5bfe\u7167\u7684\u306a\u75c7\u72b6\u3092\u793a\u3059\u305f\u3081\u3001\u81e8\u5e8a\u73fe\u5834\u3084\u533b\u5b66\u8ad6\u6587\u3067\u306f\u3053\u306e\u540d\u79f0\u3067\u6982\u5ff5\u5316\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>NSD1\u91cd\u8907\u75c7\u5019\u7fa4\uff08NSD1 duplication syndrome\uff09<\/li>\n\n\n\n<li>\u30cf\u30f3\u30bf\u30fc\u30fb\u30de\u30af\u30a2\u30eb\u30d1\u30a4\u30f3\u75c7\u5019\u7fa4\uff08Hunter-McAlpine syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b74\u53f2\u7684\u306b5q35\u9818\u57df\u306e\u91cd\u8907\u306b\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u305f\u75be\u60a3\u3067\u3059\u304c\u3001\u73fe\u5728\u306f5q35\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u3001\u3042\u308b\u3044\u306f\u91cd\u75c7\u578b\u3068\u3057\u3066\u7d71\u5408\u3057\u3066\u8003\u3048\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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\u6700\u3082\u672b\u7aef\u306b\u8fd1\u3044\u300c35\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\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\u300c\u9006\u30bd\u30c8\u30b9\u300d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/p>\n\n\n\n<p>5q35\u9818\u57df\u306b\u306f\u3001NSD1 (Nuclear Receptor Binding SET Domain Protein 1) \u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u6975\u3081\u3066\u91cd\u8981\u306a\u300c\u30de\u30b9\u30bf\u30fc\u5236\u5fa1\u907a\u4f1d\u5b50\uff08\u30d2\u30b9\u30c8\u30f3\u30e1\u30c1\u30eb\u5316\u9175\u7d20\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u300c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u306e\u5bfe\u6bd4\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff085q35\u6b20\u5931\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>NSD1<\/em>\u907a\u4f1d\u5b50\u304c**\u300c\u6b20\u5931\uff08\u4e0d\u8db3\uff09\u300d**\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u3001\u5927\u982d\u75c7\u3001\u5b66\u7fd2\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>5q35\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>NSD1<\/em>\u907a\u4f1d\u5b50\u304c**\u300c\u91cd\u8907\uff08\u904e\u5270\uff09\u300d**\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u6210\u9577\u4e0d\u5168\uff08\u4f4e\u8eab\u9577\uff09\u3001\u5c0f\u982d\u75c7\u3001\u767a\u9054\u9045\u6ede\u3002<\/li>\n\n\n\n<li>\u307e\u3055\u306b\u93e1\u306b\u6620\u3057\u305f\u3088\u3046\u306b\u3001\u907a\u4f1d\u5b50\u306e\u5897\u6e1b\u306b\u3088\u3063\u3066\u771f\u9006\u306e\u8eab\u4f53\u7279\u5fb4\uff08\u93e1\u50cf\u95a2\u4fc2\uff09\u304c\u73fe\u308c\u307e\u3059\u3002\u3053\u308c\u3092**\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\u300d<strong>\u307e\u305f\u306f<\/strong>\u300c\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08Triplosensitivity\uff09\u300d**\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u91cd\u8907\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001<em>NSD1<\/em>\u907a\u4f1d\u5b50\u3092\u542b\u3080\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u91cd\u8907\u304c\u4e00\u822c\u7684\u3067\u3059\u304c\u3001\u3088\u308a\u5e83\u7bc4\u56f2\u306a\u91cd\u8907\u306e\u5834\u5408\u306f\u96a3\u63a5\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3082\u52a0\u308f\u308a\u3001\u75c7\u72b6\u304c\u8907\u96d1\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\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\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08\u6b20\u5931\uff09\u306f\u3001\u51fa\u751f10,000\u301c14,000\u4eba\u306b1\u4eba\u3068\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u304c\u30015q35\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5831\u544a\u6570\u306f\u305d\u308c\u3088\u308a\u3082\u5c11\u306a\u3044\u3067\u3059\uff08\u4e16\u754c\u7684\u306a\u5831\u544a\u6570\u306f\u6570\u767e\u4f8b\u898f\u6a21\uff09\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\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\u304c\u975e\u7279\u7570\u7684:<\/strong> \u300c\u5c0f\u67c4\u3067\u3001\u5c11\u3057\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3046\u7279\u5fb4\u306f\u3001\u4ed6\u306e\u591a\u304f\u306e\u75be\u60a3\u3084\u4f53\u8cea\u6027\u306e\u4f4e\u8eab\u9577\u3068\u533a\u5225\u304c\u3064\u304d\u306b\u304f\u304f\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306b\u81f3\u3089\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u666e\u53ca\u3059\u308b\u307e\u3067\u306f\u3001\u767a\u898b\u304c\u96e3\u3057\u304b\u3063\u305f\u5fae\u7d30\u306a\u91cd\u8907\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\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\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u5bfe\u7167\u7684\u306b**\u300c\u4f4e\u8eab\u9577\uff08\u5c0f\u67c4\uff09\u300d\u300c\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u300d\u300c\u767a\u9054\u9045\u6ede\u300d**\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u304c\u4f4e\u8eab\u9577\u306b\u306a\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u8eab\u9577\u304c\u6b63\u5e38\u7bc4\u56f2\u306e\u65b9\u3082\u3044\u307e\u3059\u3002\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8eab\u4f53\u7684\u6210\u9577\u30fb\u4f53\u683c\uff08Growth Failure\uff09<\/strong><\/p>\n\n\n\n<p>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08\u904e\u6210\u9577\uff09\u306e\u9006\u306e\u73fe\u8c61\u304c\u8d77\u304d\u307e\u3059\u3002<\/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>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u3001\u540c\u5e74\u9f62\u306e\u5e73\u5747\u3088\u308a\u3082\u8eab\u9577\u304c\u4f4e\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08-2SD\u4ee5\u4e0b\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u6642\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u3063\u3066\u3082\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u5f90\u3005\u306b\u6210\u9577\u7387\u304c\u4f4e\u4e0b\u3057\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u6027\u4f4e\u8eab\u9577\u75c7<\/strong>\u3092\u5408\u4f75\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u30db\u30eb\u30e2\u30f3\u306f\u6b63\u5e38\u3067\u9aa8\u306e\u53cd\u5fdc\u6027\u306e\u554f\u984c\u3067\u3042\u308b\u5834\u5408\u3082\u3042\u308a\u307e\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\u3081\u3067\u3001\u5c0f\u9854\u306e\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3082\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u300c\u5927\u982d\u75c7\u300d\u3068\u306f\u5bfe\u7167\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u300c\u9762\u9577\u3067\u984e\u304c\u3057\u3083\u304f\u308c\u305f\u9854\u300d\u3068\u306f\u7570\u306a\u308a\u30015q35\u91cd\u8907\u306b\u306f\u72ec\u81ea\u306e\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u306e\u5f62:<\/strong> \u4e38\u9854\u3001\u3042\u308b\u3044\u306f\u9006\u4e09\u89d2\u5f62\u306e\u3088\u3046\u306a\u5c0f\u9854\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u307e\u305f\u306f\u773c\u77bc\u88c2\u659c\u4e0a\uff08\u30c4\u30ea\u76ee\uff09\u3002<\/li>\n\n\n\n<li>\u76ee\u306e\u5468\u308a\u306e\u76ae\u819a\u304c\u5c11\u3057\u3080\u304f\u3093\u3060\u3088\u3046\u306a\u5370\u8c61\uff08Periorbital fullness\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77ed\u3044\u9f3b\u3001\u9f3b\u6839\u90e8\u304c\u4f4e\u3044\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3\u30fb\u984e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8584\u3044\u4e0a\u5507\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u5f8c\u9000\u3057\u305f\u3042\u3054\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u5927\u304d\u306a\u8033\u3001\u3042\u308b\u3044\u306f\u7a81\u304d\u51fa\u3057\u305f\u8033\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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\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>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5883\u754c\u57df\u77e5\u80fd\u3084\u6b63\u5e38\u77e5\u80fd\uff08\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\uff09\u306e\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u540c\u7a0b\u5ea6\u306e\u77e5\u7684\u30ec\u30d9\u30eb\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u65b9\u304c\u3084\u3084\u30de\u30a4\u30eb\u30c9\u3067\u3042\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u306b\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u3044\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u305f\u3081\u3001\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5b89\u969c\u5bb3\u30fb\u5185\u6c17:<\/strong> \u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u304c\u793e\u4ea4\u7684\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u30015q35\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u4e0d\u5b89\u304c\u5f37\u304f\u3001\u5185\u6c17\u3067\u6065\u305a\u304b\u3057\u304c\u308a\u5c4b\u306a\u6027\u683c\u50be\u5411\u304c\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong> \u3053\u3060\u308f\u308a\u3084\u793e\u4f1a\u6027\u306e\u82e6\u624b\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ADHD:<\/strong> \u6ce8\u610f\u6563\u6f2b\u3084\u591a\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u56db\u80a2\u30fb\u9aa8\u683c\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u3055\u306a\u624b\u8db3:<\/strong> \u4f53\u683c\u306b\u5408\u308f\u305b\u3066\u624b\u8db3\u3082\u5c0f\u3055\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77ed\u6307\u75c7\uff08\u6307\u304c\u77ed\u3044\uff09\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\uff08Clinodactyly\uff09\u3001\u5148\u7d30\u308a\u306e\u6307\u3002<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e\u5408\u6307\u75c7\u3084\u3001\u8db3\u6307\u306e\u9593\u9694\u304c\u5e83\u3044\uff08Sandal gap\uff09\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u4e00\u65b9\u3067\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u95a2\u7bc0\u62d8\u7e2e\uff08\u786c\u304f\u306a\u308b\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5074\u5f2f\u75c7:<\/strong> \u80cc\u9aa8\u306e\u66f2\u304c\u308a\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u7387\u306f\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3088\u308a\u3082\u3084\u3084\u9ad8\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u3082\u306e\u306f\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0415-20%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u814e\u81d3\u306e\u5947\u5f62\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3001\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u30d8\u30eb\u30cb\u30a2:<\/strong> \u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3084\u81cd\u30d8\u30eb\u30cb\u30a2\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong> \u6b6f\u4e26\u3073\u306e\u60aa\u3055\uff08\u53e2\u751f\uff09\u3001\u5c0f\u3055\u306a\u6b6f\uff08\u77ee\u5c0f\u6b6f\uff09\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\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>5q35\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u30d6\u30ed\u30c3\u30af\uff08LCR\uff1aLow Copy Repeats\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u7d30\u80de\u5206\u88c2\u306e\u969b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u9593\u9055\u3063\u3066\u30da\u30a2\u3092\u7d44\u3093\u3067\u3057\u307e\u3044\u3001\u305d\u306e\u9593\u306e\u9818\u57df\u304c\u300c\u6b20\u5931\uff08\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff09\u300d\u3057\u305f\u308a\u300c\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09\u300d\u3057\u305f\u308a\u3057\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\u306e\u300c\u88cf\u3068\u8868\u300d\u306e\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\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u3082\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3001\u5c0f\u67c4\u3067\u3042\u3063\u305f\u308a\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u304c\u3042\u3063\u305f\u308a\u3059\u308b\u3082\u306e\u306e\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\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\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. NSD1\u907a\u4f1d\u5b50\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>NSD1<\/em>\u907a\u4f1d\u5b50\u306f\u6210\u9577\u3092\u4fc3\u9032\u3059\u308b\u50cd\u304d\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u591a\u3059\u304e\u308b\uff08\u91cd\u8907\uff09\u3068\u3001\u6210\u9577\u306e\u30d6\u30ec\u30fc\u30ad\u304c\u304b\u304b\u308a\u3059\u304e\u308b\u3088\u3046\u306a\u72b6\u614b\u306b\u306a\u308a\u3001\u4f4e\u8eab\u9577\u3084\u5c0f\u982d\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u8a73\u7d30\u306a\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u73fe\u5728\u3082\u7814\u7a76\u4e2d\u3067\u3059\uff09\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\u7591\u308f\u308c\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\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\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08\u6b20\u5931\uff09\u3067\u306f\u306a\u304f\u3001\u91cd\u8907\u3067\u3042\u308b\u3053\u3068\u3092\u78ba\u5b9a\u3057\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>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6027\u304b\u7a81\u7136\u5909\u7570\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3084\u3001\u89aa\u81ea\u8eab\u306e\u5065\u5eb7\u7ba1\u7406\u306b\u304a\u3044\u3066\u3082\u91cd\u8981\u3067\u3059\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\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u30fb\u6210\u9577\u3092\u652f\u3048\u308b\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u5185\u5206\u6ccc\u5b66\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\u306e\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u66f2\u7dda\u3092\u5b9a\u671f\u7684\u306b\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u3001\u5185\u5206\u6ccc\u5c02\u9580\u533b\u306b\u3088\u308b\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u523a\u6fc0\u8a66\u9a13\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u3001\u307e\u305f\u306fSGA\u6027\u4f4e\u8eab\u9577\u75c7\uff08\u5728\u80ce\u9031\u6570\u306b\u6bd4\u3079\u3066\u5c0f\u3055\u304f\u751f\u307e\u308c\u305f\u5834\u5408\uff09\u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u5834\u5408\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306e\u5bfe\u8c61\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u8eab\u9577\u306e\u6539\u5584\u304c\u671f\u5f85\u3067\u304d\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\u304c\u76ee\u7acb\u3064\u305f\u3081\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u306b\u529b\u3092\u5165\u308c\u307e\u3059\u3002\u69cb\u97f3\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u767a\u97f3\u306e\u7df4\u7fd2\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u304c\u5f37\u3044\u3001\u5185\u6c17\u3067\u3042\u308b\u3068\u3044\u3063\u305f\u7279\u6027\u306b\u5bfe\u3057\u3001\u5b89\u5fc3\u3067\u304d\u308b\u74b0\u5883\u3065\u304f\u308a\u3084\u3001\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7\u3067\u306e\u793e\u4f1a\u53c2\u52a0\u3092\u652f\u63f4\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\u500b\u5225\u306e\u5b66\u7fd2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u306a\u3069\u3092\u6d3b\u7528\u3057\u3001\u82e6\u624b\u306a\u5206\u91ce\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u9069\u5207\u306a\u652f\u63f4\u304c\u3042\u308c\u3070\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u306b\u9069\u5fdc\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\u30fb\u814e\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u6642\u306b\u30a8\u30b3\u30fc\u691c\u67fb\u306a\u3069\u3067\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u3001\u7570\u5e38\u304c\u3042\u308c\u3070\u5c02\u9580\u533b\u306b\u3088\u308b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u4e26\u3073\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u77ef\u6b63\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\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\u8aac\u660e\u306f\u5206\u304b\u308a\u3084\u3059\u3044\u3067\u3059\u304c\u3001\u75c7\u72b6\u306f\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u6b63\u78ba\u306a\u60c5\u5831\u3092\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408\u3001\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u300d\u3068\u8cac\u3081\u306a\u3044\u3088\u3046\u3001\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff08\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u5909\u7570\u3067\u3042\u308b\u3053\u3068\uff09\u3092\u8aac\u660e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\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\u7aef\u3063\u3053\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u300c\u80cc\u304c\u9ad8\u304f\u306a\u308b\u300d\u3053\u3068\u3067\u6709\u540d\u306a\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3001\u9006\u306b\u300c\u5897\u3048\u3059\u304e\u3066\u3057\u307e\u3063\u305f\u300d\u72b6\u614b\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u3082\u9006\u3067\u3001\u300c\u80cc\u304c\u4f38\u3073\u306b\u304f\u304f\u3001\u5c0f\u67c4\u3067\u3001\u982d\u304c\u5c0f\u3055\u3044\u300d\u3068\u3044\u3046\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\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\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u3066\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\u306f\u91cd\u304f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u547d\u306b\u95a2\u308f\u308b\u3088\u3046\u306a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u683c\u7684\u306b\u306f\u3001\u5c11\u3057\u6065\u305a\u304b\u3057\u304c\u308a\u5c4b\u3067\u614e\u91cd\u6d3e\u3001\u305d\u3057\u3066\u3068\u3066\u3082\u512a\u3057\u3044\u5fc3\u3092\u6301\u3063\u305f\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u8eab\u9577\u306b\u3064\u3044\u3066\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u6cbb\u7642\u304c\u52b9\u679c\u7684\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u3001\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u7740\u5b9f\u306b\u4f38\u3073\u3066\u3044\u304d\u307e\u3059\u3002\u8a00\u8449\u3067\u306e\u8868\u73fe\u304c\u82e6\u624b\u3067\u3082\u3001\u7406\u89e3\u529b\u306f\u80b2\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u89aa\u5fa1\u3055\u3093\u304b\u3089\u4f53\u8cea\u3068\u3057\u3066\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u89aa\u5fa1\u3055\u3093\u3082\u540c\u3058\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u306f\u300c\u75c5\u6c17\u300d\u3068\u3044\u3046\u3088\u308a\u3082\u3001\u300c\u907a\u4f1d\u7684\u306a\u500b\u6027\u300d\u306e\u4e00\u3064\u3068\u8a00\u3048\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5185\u5206\u6ccc\u79d1\u533b\u3001\u5c0f\u5150\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\u614e\u91cd\u306a\u304c\u3089\u3082\u7740\u5b9f\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 and 5q35 microduplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b5q35\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u9006\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff09\u306e\u81e8\u5e8a\u50cf\u3092\u5b9a\u7fa9\u3057\u3001NSD1\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\uff081 vs 3\uff09\u304c\u8eab\u9577\u3084\u982d\u56f2\u306b\u4e0e\u3048\u308b\u5f71\u97ff\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09\u3092\u5b9a\u91cf\u7684\u306b\u89e3\u6790\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 spectrum of 5q35.3 microduplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u591a\u6570\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u3001\u4f4e\u8eab\u9577\u3001\u5c0f\u982d\u75c7\u3001\u77e5\u7684\u969c\u5bb3\u3068\u3044\u3063\u305f\u4e2d\u6838\u75c7\u72b6\u306b\u52a0\u3048\u3001\u884c\u52d5\u7279\u6027\uff08\u4e0d\u5b89\u306a\u3069\uff09\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zhang, X., et al.<\/strong> (2011). <em>5q35.3 microduplication syndrome: clinical and molecular characterization of three new cases.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b5q35\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u65b0\u305f\u306a\u75c7\u4f8b\u3092\u5831\u544a\u3057\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u81e8\u5e8a\u7684\u306a\u5bfe\u6bd4\uff08\u93e1\u50cf\u95a2\u4fc2\uff09\u306b\u3064\u3044\u3066\u8b70\u8ad6\u3057\u305f\u7814\u7a76\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\u767a\u9054\u306e\u76ee\u5b89\u3001\u5065\u5eb7\u7ba1\u7406\u306e\u30dd\u30a4\u30f3\u30c8\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\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>Chen, C.P., et al.<\/strong> (2018). <em>Prenatal diagnosis and molecular cytogenetic characterization of 5q35.3 microduplication.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u51fa\u751f\u524d\u8a3a\u65ad\u306b\u304a\u3051\u308b5q35\u91cd\u8907\u306e\u6240\u898b\u3084\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u8996\u70b9\u306b\u3064\u3044\u3066\u8a18\u8ff0\u3057\u305f\u6587\u732e\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-17099","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\/17099","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17099\/revisions"}],"predecessor-version":[{"id":17602,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17099\/revisions\/17602"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17099"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}