{"id":17456,"date":"2026-01-22T05:27:41","date_gmt":"2026-01-22T05:27:41","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17456"},"modified":"2026-01-22T05:28:37","modified_gmt":"2026-01-22T05:28:37","slug":"sotos-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/sotos-syndrome\/","title":{"rendered":"Sotos syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u8133\u6027\u5de8\u4eba\u75c7\uff08Cerebral Gigantism\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u304b\u3064\u3066\u3001\u8133\u306e\u69cb\u9020\u7684\u7279\u5fb4\u3068\u904e\u6210\u9577\u306b\u6ce8\u76ee\u3057\u3066\u547c\u3070\u308c\u3066\u3044\u305f\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>5q35\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u5358\u4f53\u306e\u5909\u7570\u3067\u306f\u306a\u304f\u30015\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308b\u5834\u5408\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NSD1\u95a2\u9023\u75be\u60a3\uff08NSD1-related disorder\uff09<\/strong><\/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\uff0935.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306f\u30015\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u8fd1\u304f\uff085q35.3\uff09\u306b\u4f4d\u7f6e\u3059\u308b <strong>NSD1\u907a\u4f1d\u5b50<\/strong> \u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068NSD1\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50:<\/strong> <em>NSD1<\/em> (Nuclear receptor-binding SET domain-containing protein 1)<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> <em>NSD1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30b9\u30c8\u30f3\u30e1\u30c1\u30eb\u57fa\u8ee2\u79fb\u9175\u7d20\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001DNA\u304c\u5dfb\u304d\u4ed8\u3044\u3066\u3044\u308b\u30d2\u30b9\u30c8\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u30e1\u30c1\u30eb\u57fa\u3092\u4ed8\u52a0\u3059\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u300c\u8abf\u7bc0\uff08\u30aa\u30f3\/\u30aa\u30d5\uff09\u300d\u3059\u308b\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u306e\u53f8\u4ee4\u5854\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u901a\u5e38\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7236\u7531\u6765\u3068\u6bcd\u7531\u6765\u306e2\u3064\u304c\u50cd\u3044\u3066\u3044\u307e\u3059\u304c\u3001\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u6e1b\u3063\u3066\u3057\u307e\u3046\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u304c\u8d77\u3053\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u904e\u6210\u9577\u3084\u767a\u9054\u9045\u6ede\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d0410,000\u4eba \u301c 14,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u983b\u5ea6:<\/strong> \u5148\u5929\u6027\u904e\u6210\u9577\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u56fd\u5185:<\/strong> \u65e5\u672c\u4eba\u306b\u304a\u3051\u308b\u983b\u5ea6\u3082\u6b27\u7c73\u3068\u307b\u307c\u540c\u69d8\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u65e5\u672c\u4eba\u75c7\u4f8b\u306e\u7279\u5fb4\u3068\u3057\u3066\u300c\u67d3\u8272\u4f53\u306e\u5fae\u5c0f\u6b20\u5931\u300d\u304c\u539f\u56e0\u3067\u3042\u308b\u5272\u5408\u304c\u8af8\u5916\u56fd\u306b\u6bd4\u3079\u3066\u9ad8\u3044\uff08\u7d04\u534a\u6570\u4ee5\u4e0a\uff09\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u540c\u7b49\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/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>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u6210\u9577\u3001\u5916\u898b\u3001\u7cbe\u795e\u767a\u9054\u306e3\u3064\u306e\u5927\u304d\u306a\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u904e\u6210\u9577\uff08Overgrowth\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ce\u5150\u671f\u30fb\u51fa\u751f\u6642:<\/strong> \u51fa\u751f\u6642\u304b\u3089\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\u304c\u5927\u304d\u304f\uff08SGA\u306e\u9006\uff09\u3001\u7279\u306b\u8eab\u9577\u3068\u982d\u56f2\u304c\u8457\u3057\u304f\u76ee\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e73\u5e7c\u5150\u671f\u30fb\u5c0f\u5150\u671f:<\/strong> \u9aa8\u683c\u306e\u767a\u80b2\u304c\u975e\u5e38\u306b\u65e9\u304f\u3001\u5b9f\u5e74\u9f62\u3088\u308a\u3082\u9aa8\u306e\u5e74\u9f62\uff08\u9aa8\u5e74\u9f62\uff09\u304c\u9032\u3093\u3067\u3044\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6700\u7d42\u8eab\u9577:<\/strong> \u601d\u6625\u671f\u304c\u6bd4\u8f03\u7684\u65e9\u304f\u6765\u308b\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u6700\u7d42\u7684\u306a\u6210\u4eba\u8eab\u9577\u306f\u9ad8\u8eab\u9577\u306e\u7bc4\u56f2\u5185\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u5c0f\u5150\u671f\u306e\u9a5a\u7570\u7684\u306a\u4f38\u3073\u306b\u6bd4\u3079\u308b\u3068\u3001\u6700\u7d42\u7684\u306b\u306f\u300c\u3084\u3084\u9ad8\u3044\u300d\u7a0b\u5ea6\u306b\u843d\u3061\u7740\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Characteristic Facial Features\uff09<\/strong><\/p>\n\n\n\n<p>\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u304c\u3001\u5171\u901a\u306e\u72ec\u7279\u306a\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9577\u3044\u9854:<\/strong> \u9854\u306e\u4e0a\u4e0b\u5f84\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u984d:<\/strong> \u524d\u982d\u90e8\u304c\u7a81\u304d\u51fa\u3057\u3066\u304a\u308a\u3001\u984d\u304c\u5e83\u304f\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b:<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u30bf\u30ec\u76ee\u69d8\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u3044\u751f\u3048\u969b:<\/strong> \u524d\u982d\u90e8\u306e\u751f\u3048\u969b\u304c\u5f8c\u9000\u3057\u3066\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c16\u3063\u305f\u984e:<\/strong> \u4e0b\u984e\u304c\u9577\u304f\u3001\u984e\u5148\u304c\u7d30\u304f\u5c16\u3063\u3066\u898b\u3048\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9854\u9762\u6f6e\u7d05:<\/strong> \u982c\u304c\u8d64\u304f\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4e73\u5150\u671f\u306e\u4f53\u306e\u67d4\u3089\u304b\u3055\uff09\u3084\u3001\u4f53\u306e\u5927\u304d\u3055\u3068\u7b4b\u529b\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u53d6\u308c\u306b\u304f\u3044\u3053\u3068\u306b\u3088\u308a\u3001\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u591a\u52d5\u3001\u885d\u52d5\u6027\u3001\u3042\u308b\u3044\u306f\u5909\u5316\u306b\u5bfe\u3059\u308b\u4e0d\u5b89\u3001\u7279\u5b9a\u306e\u7269\u3078\u306e\u5f37\u3044\u3053\u3060\u308f\u308a\u306a\u3069\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084ADHD\u306b\u4f3c\u305f\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u7d0420\uff5e30%\u306e\u75c7\u4f8b\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u306e\u69cb\u9020\u7570\u5e38:<\/strong> \u8133\u5ba4\u62e1\u5927\u3084\u8133\u6881\u306e\u7570\u5e38\u304cMRI\u306a\u3069\u3067\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5fc3\u5947\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u5668\u7cfb\u7570\u5e38:<\/strong> \u814e\u6b20\u640d\u3001\u814e\u76c2\u62e1\u5f35\u3001\u8180\u80f1\u5c3f\u7ba1\u9006\u6d41\u75c7\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f4e\u75c7:<\/strong> \u6025\u6fc0\u306a\u6210\u9577\u306b\u4f34\u3044\u3001\u80cc\u9aa8\u304c\u66f2\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7684\u554f\u984c:<\/strong> \u9ad8\u53e3\u84cb\u3084\u6b6f\u306e\u5f62\u6210\u4e0d\u5168\u3001\u6c38\u4e45\u6b6f\u306e\u6b20\u640d\u3002<\/li>\n\n\n\n<li><strong>\u816b\u760d\u306e\u30ea\u30b9\u30af:<\/strong> \u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u4ed9\u5c3e\u90e8\u5947\u5f62\u816b\u3084\u795e\u7d4c\u82bd\u7d30\u80de\u816b\u306a\u3069\u306e\u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\u304c\u4e00\u822c\u3088\u308a\u308f\u305a\u304b\u306b\u9ad8\u3044\uff08\u7d042\u301c3%\uff09\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\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><strong>NSD1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u307e\u305f\u306f5q35\u5fae\u5c0f\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<p>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306f\u3001<em>NSD1<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>NSD1\u907a\u4f1d\u5b50\u5185\u5909\u7570\uff08\u6b27\u7c73\u75c7\u4f8b\u306b\u591a\u3044\uff09:<br>\u907a\u4f1d\u5b50\u306e\u914d\u5217\u306e\u4e2d\u306b\u5c0f\u3055\u306a\u66f8\u304d\u63db\u3048\uff08\u70b9\u7a81\u7136\u5909\u7570\uff09\u304c\u3042\u308a\u3001\u907a\u4f1d\u5b50\u304c\u6b63\u3057\u304f\u50cd\u304b\u306a\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>5q35\u5fae\u5c0f\u6b20\u5931\uff08\u65e5\u672c\u4eba\u75c7\u4f8b\u306b\u591a\u3044\uff09:<br>NSD1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u30015\u756a\u67d3\u8272\u4f53\u672b\u7aef\u306e\u5fae\u5c0f\u306a\u9818\u57df\u304c\u3054\u3063\u305d\u308a\u3068\u6b20\u3051\u3066\u3044\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u65e5\u672c\u4eba\u3067\u306f\u3053\u306e\u300c\u5fae\u5c0f\u6b20\u5931\u300d\u304c\u7d0460%\u3092\u5360\u3081\u308b\u306e\u306b\u5bfe\u3057\u3001\u6b27\u7c73\u4eba\u3067\u306f\u7d0410%\u7a0b\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u30bf\u30a4\u30d7\u306f\u3001\u907a\u4f1d\u5b50\u5185\u5909\u7570\u30bf\u30a4\u30d7\u306b\u6bd4\u3079\u3066\u3001\u6210\u9577\u306f\u3084\u3084\u30de\u30a4\u30eb\u30c9\u3067\u3059\u304c\u3001\u77e5\u7684\u969c\u5bb3\u3084\u5fc3\u5947\u5f62\u306e\u5408\u4f75\u304c\u3088\u308a\u91cd\u7be4\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u3068\u3044\u3046\u7814\u7a76\u7d50\u679c\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08\u7d0495%\u4ee5\u4e0a\uff09:<br>\u307b\u3068\u3093\u3069\u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\u3067\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>\u81e8\u5e8a\u75c7\u72b6\u304b\u3089\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96:<\/strong> \u300c\u904e\u6210\u9577\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u77e5\u7684\u767a\u9054\u9045\u6ede\u300d\u306e\u4e09\u5fb4\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5 \/ \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb:<br>\u65e5\u672c\u4eba\u3067\u591a\u3044 5q35\u5fae\u5c0f\u6b20\u5931 \u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>NSD1\u907a\u4f1d\u5b50\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0:<br>\u5fae\u5c0f\u6b20\u5931\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3001\u907a\u4f1d\u5b50\u5185\u306e\u5fae\u7d30\u306a\u5909\u7570\u3092\u63a2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u5e74\u9f62\u306e\u8a55\u4fa1:<\/strong> \u624b\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u3001\u5b9f\u5e74\u9f62\u3068\u9aa8\u306e\u6210\u9577\u5ea6\u5408\u3044\u3092\u6bd4\u8f03\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u7684\u7279\u5fb4\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\u30fb\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u5408\u4f75\u75c7\u306e\u691c\u7d22\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u3068\u3001\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306b\u5408\u308f\u305b\u305f\u767a\u9054\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u904b\u52d5\u767a\u9054\u306e\u4fc3\u9032\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u5668\u7528\u3055\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8a9e\u7372\u5f97\u306e\u652f\u63f4\u3002\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u4ee3\u66ff\u624b\u6bb5\u3082\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084\u500b\u3005\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u5b66\u7fd2\u74b0\u5883\u306e\u6574\u5099\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u9069\u5207\u306a\u767a\u4f5c\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f4e\u75c7:<\/strong> \u6210\u9577\u671f\u306b\u5b9a\u671f\u7684\u306a\u6574\u5f62\u5916\u79d1\u7684\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u7642\u6cd5\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u30fb\u814e\u75be\u60a3:<\/strong> \u7a0b\u5ea6\u306b\u5fdc\u3058\u305f\u5916\u79d1\u7684\u6cbb\u7642\u3084\u7d4c\u904e\u89b3\u5bdf\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7ba1\u7406:<\/strong> \u6b6f\u4e26\u3073\u306e\u554f\u984c\u306b\u5bfe\u3059\u308b\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3068\u77ef\u6b63\u76f8\u8ac7\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u793e\u4f1a\u7684\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f53\u304c\u5927\u304d\u3044\u305f\u3081\u306b\u300c\u5b9f\u5e74\u9f62\u3088\u308a\u4e0a\u300d\u306b\u898b\u3089\u308c\u3001\u672c\u6765\u306e\u5e74\u9f62\u76f8\u5fdc\u306e\u632f\u308b\u821e\u3044\u4ee5\u4e0a\u306b\u9ad8\u3044\u671f\u5f85\uff08\u30d7\u30ec\u30c3\u30b7\u30e3\u30fc\uff09\u3092\u5468\u56f2\u304b\u3089\u53d7\u3051\u3084\u3059\u3044\u3068\u3044\u3046\u5fc3\u7406\u7684\u8ab2\u984c\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u4eba\u306e\u5185\u9762\u7684\u306a\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u63a5\u3057\u65b9\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5408\u4f75\u75c7\u304c\u306a\u3044\u9650\u308a\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u306e\u72b6\u614b:<\/strong> \u6210\u4eba\u671f\u306b\u306f\u904e\u6210\u9577\u306e\u30b9\u30d4\u30fc\u30c9\u306f\u843d\u3061\u7740\u304d\u3001\u6700\u7d42\u8eab\u9577\u306f\u9ad8\u8eab\u9577\uff08\u3042\u308b\u3044\u306f\u6b63\u5e38\u7bc4\u56f2\u306e\u4e0a\u9650\uff09\u3068\u306a\u308a\u307e\u3059\u3002\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u652f\u63f4\u304c\u3042\u308c\u3070\u5c31\u52b4\u3057\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5065\u5eb7\u7ba1\u7406:<\/strong> \u6210\u4eba\u671f\u4ee5\u964d\u3082\u3001\u9ad8\u8840\u5727\u3084\u810a\u690e\u306e\u554f\u984c\u306a\u3069\u306b\u5bfe\u3057\u3066\u3001\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30c1\u30a7\u30c3\u30af\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\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>Sotos syndrome\uff08\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u30015\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cNSD1\u300d\u3068\u3044\u3046\u3001\u4f53\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u3092\u8abf\u6574\u3059\u308b\u5927\u5207\u306a\u30b9\u30a4\u30c3\u30c1\u5f79\u306e\u907a\u4f1d\u5b50\u304c\u3001\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8d64\u3061\u3083\u3093\u306e\u6642\u304b\u3089\u4f53\u304c\u5927\u304d\u304f\u3001\u6210\u9577\u304c\u3068\u3066\u3082\u65e9\u3044\u300d\u300c\u984d\u304c\u5e83\u304f\u3066\u30c1\u30e3\u30fc\u30df\u30f3\u30b0\u306a\u9854\u7acb\u3061\u300d\u300c\u8a00\u8449\u3084\u4f53\u306e\u52d5\u304d\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u65e5\u672c\u4eba\u306e\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5468\u308a\u304c\u3054\u3063\u305d\u308a\u3068\u6b20\u3051\u3066\u3057\u307e\u3046\u300c\u5fae\u5c0f\u6b20\u5931\u300d\u3068\u3044\u3046\u30bf\u30a4\u30d7\u304c\u591a\u3044\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u306f\u304a\u5b50\u69d8\u306e\u4f53\u306e\u5927\u304d\u3055\u3068\u3001\u5fc3\u306e\u767a\u9054\u306e\u30ae\u30e3\u30c3\u30d7\u306b\u6238\u60d1\u3046\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u9069\u5207\u306a\u30ea\u30cf\u30d3\u30ea\u3084\u6559\u80b2\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u4e00\u6b69\u305a\u3064\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u304a\u5b50\u69d8\u306e\u300c\u4eca\u306e\u4f53\u306e\u30b5\u30a4\u30ba\u300d\u3067\u306f\u306a\u304f\u300c\u4eca\u306e\u5fc3\u306e\u767a\u9054\u6bb5\u968e\u300d\u306b\u5bc4\u308a\u6dfb\u3063\u3066\u3001\u9577\u304f\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u7d20\u6674\u3089\u3057\u3044\u53ef\u80fd\u6027\u3092\u4f38\u3070\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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><strong>Sotos, J. P., et al.<\/strong> (1964). <em>Cerebral gigantism in childhood. A syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder.<\/em> New England Journal of Medicine.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30bd\u30c8\u30b9\u535a\u58eb\u306b\u3088\u308b\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\u3002\u672c\u75c7\u5019\u7fa4\u306e\u5b9a\u7fa9\u3068\u306a\u3063\u305f\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kurotaki, N., et al.<\/strong> (2002). <em>Haploinsufficiency of NSD1 causes Sotos syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u65e5\u672c\u4eba\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u306b\u3088\u3063\u3066NSD1\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tatton-Brown, K., et al.<\/strong> (2005). <em>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u907a\u4f1d\u5b50\u5909\u7570\u306e\u30bf\u30a4\u30d7\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u95a2\u9023\u3092\u5927\u898f\u6a21\u306b\u5206\u6790\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Sotos Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u306b\u57fa\u3065\u304f\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Sotos Syndrome: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u89aa\u306e\u4f1a\uff08\u65e5\u672c\u306e\u60a3\u8005\u56e3\u4f53\u60c5\u5831\uff09<\/strong>: <em>\u5404\u5e74\u9f62\u5c64\u306b\u304a\u3051\u308b\u751f\u6d3b\u306e\u5b9f\u969b\u3068\u652f\u63f4<\/em>.<\/li>\n\n\n\n<li><strong>Wakeling, E. L., et al.<\/strong> (2017). <em>Diagnosis and management of Silver-Russell syndrome: first international consensus statement.<\/em> (\u203b\u904e\u6210\u9577\u75c7\u5019\u7fa4\u306e\u9451\u5225\u8a3a\u65ad\u3068\u3057\u3066\u306e\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9)<\/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-17456","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\/17456","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\/17456\/revisions"}],"predecessor-version":[{"id":17459,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17456\/revisions\/17459"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17456"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}