{"id":17217,"date":"2026-01-21T08:47:25","date_gmt":"2026-01-21T08:47:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17217"},"modified":"2026-01-21T08:47:25","modified_gmt":"2026-01-21T08:47:25","slug":"9q33-3-q34-11-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/9q33-3-q34-11-microdeletion-syndrome\/","title":{"rendered":"9q33.3-q34.11 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>9q33.3-q34.11\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>9q33-q34\u6b20\u5931\u75c7\u5019\u7fa4\uff089q33-q34 deletion syndrome\uff09<\/li>\n\n\n\n<li>9q34.1\u6b20\u5931\u75c7\u5019\u7fa4\uff089q34.1 deletion syndrome\uff09<\/li>\n\n\n\n<li>9q\u8fd1\u4f4d\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li><strong>STXBP1\u8133\u75c7\uff08STXBP1 encephalopathy\uff09\u95a2\u9023<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u795e\u7d4c\u75c7\u72b6\u306e\u4e2d\u6838\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>STXBP1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u722a\u30fb\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff08Nail-Patella syndrome; NPS\uff09\u95a2\u9023<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u9aa8\u683c\u30fb\u814e\u75c7\u72b6\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>LMX1B<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u907a\u4f1d\u6027\u51fa\u8840\u6027\u672b\u68a2\u8840\u7ba1\u62e1\u5f35\u75c7\uff08HHT\uff09\u95a2\u9023<\/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>9\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0933.3\u304b\u308934.11\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e9\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c33.3\u300d\u304b\u3089\u300c34.11\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304b\u3051\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u3060\u3051\u3067\u306a\u304f\u3001\u96a3\u308a\u5408\u3046\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d**\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u7bc4\u56f2\uff08\u30b5\u30a4\u30ba\uff09\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u6c7a\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u91cd\u8981\u306a\u306e\u304c\u4ee5\u4e0b\u306e3\u3064\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>STXBP1 (Syntaxin Binding Protein 1):<\/strong> 9q34.11\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30b7\u30ca\u30d7\u30b9\uff09\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3092\u653e\u51fa\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u30bf\u30f3\u30d1\u30af\u8cea\uff08Munc18-1\uff09\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u308b\u3068\u3001\u795e\u7d4c\u4f1d\u9054\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001**\u300c\u5927\u7530\u539f\u75c7\u5019\u7fa4\u300d<strong>\u3084<\/strong>\u300c\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u300d**\u3068\u3044\u3063\u305f\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LMX1B (LIM Homeobox Transcription Factor 1 Beta):<\/strong> 9q33.3\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u624b\u8db3\uff08\u7279\u306b\u722a\u3084\u819d\uff09\u306e\u9aa8\u683c\u5f62\u6210\u3084\u3001\u814e\u81d3\u306e\u30d5\u30a3\u30eb\u30bf\u30fc\uff08\u7cf8\u7403\u4f53\uff09\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> **\u300c\u722a\u30fb\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff08Nail-Patella syndrome\uff09\u300d**\u306e\u7279\u5fb4\u3067\u3042\u308b\u3001\u722a\u306e\u5f62\u6210\u4e0d\u5168\u3001\u819d\u306e\u304a\u76bf\uff08\u819d\u84cb\u9aa8\uff09\u306e\u6b20\u640d\u30fb\u4f4e\u5f62\u6210\u3001\u814e\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ENG (Endoglin):<\/strong> 9q34.11\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u8840\u7ba1\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> **\u300c\u907a\u4f1d\u6027\u51fa\u8840\u6027\u672b\u68a2\u8840\u7ba1\u62e1\u5f35\u75c7\uff08\u30aa\u30b9\u30e9\u30fc\u75c5\uff091\u578b\u300d**\u306e\u7279\u5fb4\u3067\u3042\u308b\u3001\u9f3b\u8840\u306e\u51fa\u3084\u3059\u3055\u3084\u3001\u80ba\u30fb\u8133\u306a\u3069\u306e\u52d5\u9759\u8108\u5947\u5f62\uff08AVM\uff09\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\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>\u305d\u308c\u305e\u308c\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff08STXBP1\u8133\u75c7\u3001\u722a\u30fb\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff09\u81ea\u4f53\u3082\u5e0c\u5c11\u3067\u3059\u304c\u3001\u305d\u308c\u3089\u304c\u5408\u4f75\u3059\u308b\u3053\u306e\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5831\u544a\u6570\u306f\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3044\u3066\u3082\u6570\u5341\u4f8b\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u3053\u308c\u307e\u3067\u300c\u539f\u56e0\u4e0d\u660e\u306e\u3066\u3093\u304b\u3093\u300d\u3068\u3055\u308c\u3066\u3044\u305f\u60a3\u8005\u3055\u3093\u306e\u4e2d\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\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>9q33.3-q34.11 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u91cd\u5ea6\u306e\u3066\u3093\u304b\u3093\u30fb\u767a\u9054\u9045\u6ede\uff08STXBP1\u7531\u6765\uff09\u300d\u3068\u300c\u9aa8\u683c\u30fb\u814e\u81d3\u306e\u7570\u5e38\uff08LMX1B\u7531\u6765\uff09\u300d**\u306e\u30cf\u30a4\u30d6\u30ea\u30c3\u30c9\uff08\u8907\u5408\u4f53\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\u304c\u52a0\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u5168\u8eab\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u75c7\u72b6\uff08Neurological features\uff09\uff1aSTXBP1\u95a2\u9023<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u6700\u3082\u30b1\u30a2\u306e\u6bd4\u91cd\u304c\u5927\u304d\u304f\u306a\u308b\u306e\u304c\u3001\u3053\u306e\u795e\u7d4c\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u767a\u75c7\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08DEE\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u6570\u65e5\u301c\u6570\u30f6\u6708\u3068\u3044\u3046\u975e\u5e38\u306b\u65e9\u3044\u6642\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u7530\u539f\u75c7\u5019\u7fa4:<\/strong> \u751f\u5f8c\u9593\u3082\u306a\u304f\u767a\u75c7\u3057\u3001\u77ed\u3044\u5f37\u76f4\u767a\u4f5c\uff08\u4f53\u304c\u786c\u304f\u306a\u308b\uff09\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff08\u70b9\u982d\u3066\u3093\u304b\u3093\uff09\uff1a<\/strong> \u30b7\u30ea\u30fc\u30ba\u5f62\u6210\u6027\u306e\u30b9\u30d1\u30ba\u30e0\uff08\u304a\u8f9e\u5100\u3092\u3059\u308b\u3088\u3046\u306a\u767a\u4f5c\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u62b5\u6297\u6027\u3092\u793a\u3057\uff08\u96e3\u6cbb\u6027\uff09\u3001\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u5f71\u97ff\u3082\u3042\u308a\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306f\u91cd\u5ea6\u306b\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u304c\u9045\u308c\u308b\u3001\u3042\u308b\u3044\u306f\u7372\u5f97\u3067\u304d\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7372\u5f97\uff08\u767a\u8a9e\uff09\u304c\u306a\u3044\uff08Non-verbal\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8868\u60c5\u3084\u58f0\u306e\u30c8\u30fc\u30f3\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\u30fb\u4e0d\u968f\u610f\u904b\u52d5\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u610f\u56f3\u305b\u305a\u4f53\u304c\u52d5\u3044\u3066\u3057\u307e\u3046\uff08\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\uff09\u3001\u9707\u3048\u308b\uff08\u632f\u6226\uff09\u3001\u3075\u3089\u3064\u304f\uff08\u904b\u52d5\u5931\u8abf\uff09\u306a\u3069\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u3050\u306b\u3083\u3050\u306b\u3083\u3068\u3057\u305f\u62b1\u304d\u5fc3\u5730\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u9aa8\u683c\u30fb\u722a\u306e\u7570\u5e38\uff08Skeletal features\uff09\uff1aLMX1B\u95a2\u9023<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u300c\u722a\u30fb\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\u300d\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u722a\u306e\u5f62\u6210\u4e0d\u5168\uff08Nail dysplasia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u3064\u304d\u722a\u304c\u5c0f\u3055\u3044\u3001\u5272\u308c\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u306a\u3044\uff08\u7121\u722a\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u89aa\u6307\u306e\u722a\u306b\u9855\u8457\u306b\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u819d\u84cb\u9aa8\u306e\u4f4e\u5f62\u6210\u30fb\u6b20\u640d\uff08Patellar hypoplasia\/aplasia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u819d\u306e\u304a\u76bf\uff08\u819d\u84cb\u9aa8\uff09\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u89e6\u308c\u3066\u3082\u5206\u304b\u3089\u306a\u3044\uff08\u6b20\u640d\uff09\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u819d\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u308a\u3001\u819d\u3092\u4f38\u3070\u3057\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8098\u306e\u53ef\u52d5\u57df\u5236\u9650:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8098\u304c\u771f\u3063\u76f4\u3050\u306b\u4f38\u3073\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u56de\u5185\u30fb\u56de\u5916\uff08\u638c\u3092\u8fd4\u3059\u52d5\u4f5c\uff09\u304c\u5236\u9650\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8178\u9aa8\u89d2\uff08Iliac horns\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u76e4\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308b\u3068\u3001\u8178\u9aa8\u306e\u5f8c\u308d\u306b\u89d2\u306e\u3088\u3046\u306a\u7a81\u8d77\u304c\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08Fong&#8217;s sign\uff09\u3002\u6a5f\u80fd\u7684\u306a\u554f\u984c\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u814e\u30fb\u8840\u7ba1\u7cfb\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u75c7\uff08Nephropathy\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>LMX1B<\/em>\u6b20\u5931\u306e\u5f71\u97ff\u3067\u3001\u814e\u81d3\u306e\u30d5\u30a3\u30eb\u30bf\u30fc\u6a5f\u80fd\u306b\u969c\u5bb3\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u86cb\u767d\u5c3f\u3084\u8840\u5c3f\u304c\u898b\u3089\u308c\u3001\u9032\u884c\u3059\u308b\u3068\u814e\u4e0d\u5168\u306b\u81f3\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\uff08\u6570%\u301c\u6570\u5272\u7a0b\u5ea6\uff09\u3002\u5b9a\u671f\u7684\u306a\u5c3f\u691c\u67fb\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6613\u51fa\u8840\u6027\u30fb\u52d5\u9759\u8108\u5947\u5f62\uff08HHT features\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>ENG<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u9f3b\u8840\u304c\u51fa\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u76ae\u819a\u306b\u8d64\u3044\u6591\u70b9\uff08\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\uff09\u304c\u898b\u3089\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7a00\u306b\u3001\u80ba\u3084\u8133\u306b\u52d5\u9759\u8108\u763b\uff08\u8840\u7ba1\u306e\u5947\u5f62\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6ce8\u610f\u6df1\u3044\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u9f3b\u6839\u90e8\u3001\u4e38\u3044\u9f3b\u5148\u3002<\/li>\n\n\n\n<li>\u53e3\u3092\u958b\u3051\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\uff08\u958b\u53e3\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u7570\u5e38\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u3066\u3093\u304b\u3093\u3092\u6301\u3064\u60a3\u5150\u306b\u7279\u6709\u306e\u8868\u60c5\uff08hypomimic\uff1a\u8868\u60c5\u304c\u4e4f\u3057\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>9\u756a\u67d3\u8272\u4f53\u9577\u8155\uff089q33.3-q34.11\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/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>\u672c\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u4e0d\u5747\u8861\u306a\u6b20\u5931\u3068\u3057\u3066\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>STXBP1<\/em>\u3001<em>LMX1B<\/em>\u3001<em>ENG<\/em>\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u306f\u30012\u672c\u3042\u308b\u3046\u3061\u306e1\u672c\u304c\u6b20\u3051\u3066\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\u3001\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u7dad\u6301\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b<em>STXBP1<\/em>\u306f\u3001\u30b7\u30ca\u30d7\u30b9\u3067\u306e\u5c0f\u80de\u8f38\u9001\u3068\u3044\u3046\u3001\u8133\u306e\u4fe1\u53f7\u4f1d\u9054\u306e\u6839\u5e79\u3092\u62c5\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\u58ca\u6ec5\u7684\u306a\u5f71\u97ff\uff08\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff09\u304c\u51fa\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8907\u6570\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u907a\u4f1d\u5b50\u304c\u96a3\u308a\u5408\u3063\u3066\u3044\u308b\u305f\u3081\u306b\u3001\u795e\u7d4c\u3068\u9aa8\u683c\u3068\u3044\u3046\u5168\u304f\u7570\u306a\u308b\u30b7\u30b9\u30c6\u30e0\u306e\u7570\u5e38\u304c\u540c\u6642\u306b\u767a\u751f\u3059\u308b\u306e\u304c\u672c\u75be\u60a3\u306e\u7279\u5fb4\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>\u300c\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u300d\u306b\u300c\u722a\u3084\u819d\u306e\u7570\u5e38\u300d\u304c\u5408\u4f75\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u5f37\u304f\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>9q33-q34\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>STXBP1<\/em>\u3001<em>LMX1B<\/em>\u3001<em>ENG<\/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\u5358\u306a\u308bSTXBP1\u8133\u75c7\u306a\u306e\u304b\u3001\u722a\u30fb\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\u3084\u51fa\u8840\u30ea\u30b9\u30af\u3092\u5408\u4f75\u3059\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u306a\u306e\u304b\u3092\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ \u30ec\u30f3\u30c8\u30b2\u30f3\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u840e\u7e2e\u3084\u9ac4\u9798\u5316\u9045\u5ef6\u3001\u8133\u6881\u4f4e\u5f62\u6210\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u76e4\u30fb\u819d\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u819d\u84cb\u9aa8\u306e\u6b20\u640d\u3084\u3001\u8178\u9aa8\u89d2\uff08Iliac horns\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u6ce2\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30fb\u30d0\u30fc\u30b9\u30c8\uff08\u5927\u7530\u539f\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\uff09\u3084\u3001\u30d2\u30d7\u30b9\u30a2\u30ea\u30b9\u30df\u30a2\uff08\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\uff09\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u6ce2\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c3f\u691c\u67fb\u30fb\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3\u306e\u8a55\u4fa1\u306e\u305f\u3081\u306b\u5fc5\u9808\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>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u7279\u306b\u3066\u3093\u304b\u3093\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3001\u814e\u81d3\u306e\u4fdd\u8b77\u3001\u305d\u3057\u3066\u7642\u80b2\u306e3\u672c\u67f1\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8907\u6570\u306e\u5c02\u9580\u79d1\uff08\u5c0f\u5150\u795e\u7d4c\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u814e\u81d3\u5185\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\uff09\u306e\u9023\u643a\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u6cbb\u7642\uff08\u3066\u3093\u304b\u3093\u30fb\u904b\u52d5\u969c\u5bb3\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u6700\u512a\u5148\u8ab2\u984c\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30a7\u30ce\u30d0\u30eb\u30d3\u30bf\u30fc\u30eb\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30d3\u30ac\u30d0\u30c8\u30ea\u30f3\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u306a\u3069\u3001\u767a\u4f5c\u578b\u306b\u5408\u308f\u305b\u3066\u69d8\u3005\u306a\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ACTH\u7642\u6cd5:<\/strong> \u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u306b\u5bfe\u3057\u3066\u884c\u308f\u308c\u308b\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5:<\/strong> \u85ac\u3067\u767a\u4f5c\u304c\u6b62\u307e\u3089\u306a\u3044\u5834\u5408\u3001\u98df\u4e8b\u7642\u6cd5\u304c\u6709\u52b9\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e0d\u968f\u610f\u904b\u52d5\u3078\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u306e\u7dca\u5f35\u3092\u548c\u3089\u3052\u308b\u85ac\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6574\u5f62\u5916\u79d1\u7684\u30fb\u814e\u81d3\u5185\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u819d\u306e\u4e0d\u5b89\u5b9a\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u88c5\u5177\u3092\u4f7f\u7528\u3057\u305f\u308a\u3001\u6fc0\u3057\u3044\u904b\u52d5\u3092\u5236\u9650\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u91cd\u5ea6\u306e\u904b\u52d5\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u30b1\u30a2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u95a2\u7bc0\u62d8\u7e2e\uff08\u4f53\u304c\u56fa\u304f\u306a\u308b\u3053\u3068\uff09\u3092\u9632\u3050\u305f\u3081\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3067\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u3092\u4fdd\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u5c3f\u691c\u67fb\uff08\u86cb\u767d\u5c3f\u306e\u30c1\u30a7\u30c3\u30af\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u86cb\u767d\u5c3f\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u814e\u4fdd\u8b77\u4f5c\u7528\u306e\u3042\u308b\u964d\u5727\u85ac\uff08ACE\u963b\u5bb3\u85ac\u306a\u3069\uff09\u3092\u4f7f\u7528\u3057\u3001\u814e\u6a5f\u80fd\u306e\u60aa\u5316\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5168\u8eab\u7ba1\u7406\u30fb\u8840\u7ba1\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u8840\u3078\u306e\u6ce8\u610f:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>ENG<\/em>\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u3001\u9f3b\u8840\u304c\u51fa\u3084\u3059\u3044\u305f\u3081\u3001\u4e7e\u71e5\u3092\u9632\u3050\u306a\u3069\u306e\u30b1\u30a2\u3092\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80ba\u306a\u3069\u306e\u52d5\u9759\u8108\u763b\u306e\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u30ab\u30c6\u30fc\u30c6\u30eb\u6cbb\u7642\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \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>\u6442\u98df\u30fb\u56a5\u4e0b\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u98f2\u307f\u8fbc\u307f\u304c\u60aa\u3044\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u5834\u5408\u3001\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\uff09\u3084\u80c3\u763b\uff08\u304a\u8179\u304b\u3089\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\uff09\u3092\u691c\u8a0e\u3057\u3001\u5341\u5206\u306a\u6804\u990a\u3068\u6c34\u5206\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80c3\u763b\u306f\u3001\u304a\u85ac\u3092\u78ba\u5b9f\u306b\u98f2\u307e\u305b\u308b\u305f\u3081\u306b\u3082\u975e\u5e38\u306b\u6709\u52b9\u306a\u624b\u6bb5\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u8a9e\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u30b9\u30a4\u30c3\u30c1\u6559\u6750\u3084\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u306a\u3069\u306e\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u53ef\u80fd\u6027\u3092\u5e83\u3052\u307e\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>\u300c9q\u6b20\u5931\u300d\u3068\u3044\u3063\u3066\u3082\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u672c\u75c7\u5019\u7fa4\u7279\u6709\u306e\u300c\u3066\u3093\u304b\u3093\uff0b\u9aa8\uff0b\u814e\u300d\u306e\u30ea\u30b9\u30af\u3092\u6574\u7406\u3057\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u4f1d\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\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>9q33.3-q34.11 microdeletion syndrome\u306f\u30019\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u3001\u9aa8\u3001\u814e\u81d3\u306a\u3069\u306b\u5f71\u97ff\u304c\u51fa\u308b\u8907\u5408\u7684\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u304b\u3089\u300c\u3066\u3093\u304b\u3093\u767a\u4f5c\u300d\u304c\u8d77\u304d\u3084\u3059\u304f\u3001\u540c\u6642\u306b\u300c\u722a\u304c\u5c0f\u3055\u3044\u300d\u300c\u819d\u306e\u304a\u76bf\u304c\u5c0f\u3055\u3044\u300d\u3068\u3044\u3063\u305f\u4f53\u306e\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u751f\u5f8c\u307e\u3082\u306a\u304f\u59cb\u307e\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084\u3001\u306a\u304b\u306a\u304b\u9996\u304c\u3059\u308f\u3089\u306a\u3044\u3068\u3044\u3063\u305f\u767a\u9054\u306e\u9045\u308c\u306f\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3068\u5fc3\u52b4\u306e\u539f\u56e0\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306f\u300c\u96e3\u6cbb\u6027\u300d\u3068\u547c\u3070\u308c\u308b\u30bf\u30a4\u30d7\u304c\u591a\u304f\u3001\u304a\u85ac\u306e\u8abf\u6574\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u767a\u4f5c\u306e\u5f62\u304c\u5909\u308f\u308a\u3001\u843d\u3061\u7740\u3044\u3066\u304f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u9aa8\u3084\u814e\u81d3\u306e\u554f\u984c\uff08LMX1B\u95a2\u9023\uff09\u306b\u3064\u3044\u3066\u3082\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5408\u4f75\u75c7\u3092\u65e9\u671f\u306b\u767a\u898b\u30fb\u7ba1\u7406\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u304a\u5b50\u3055\u3093\u306f\u65e5\u3005\u306e\u751f\u6d3b\u306e\u4e2d\u3067\u3001\u7b11\u9854\u3092\u898b\u305b\u305f\u308a\u3001\u58f0\u3092\u51fa\u3057\u305f\u308a\u3057\u3066\u3001\u305f\u304f\u3055\u3093\u306e\u611f\u60c5\u3092\u8868\u73fe\u3057\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306f\u8a71\u305b\u306a\u304f\u3066\u3082\u3001\u3054\u5bb6\u65cf\u306e\u611b\u60c5\u3092\u611f\u3058\u53d6\u308a\u3001\u5fc3\u5730\u3088\u3044\u95a2\u308f\u308a\u3092\u6c42\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u98df\u4e8b\u306e\u3053\u3068\u3001\u547c\u5438\u306e\u3053\u3068\u3001\u95a2\u7bc0\u306e\u3053\u3068\u306a\u3069\u3001\u30b1\u30a2\u3059\u308b\u3053\u3068\u306f\u591a\u3044\u3067\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u5bb6\u304c\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u814e\u81d3\u5185\u79d1\u533b\u3001\u8a2a\u554f\u770b\u8b77\u5e2b\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\u5c0a\u3044\u547d\u3068\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>Saitsu, H., et al.<\/strong> (2011). <em>STXBP1 encephalopathy with Nail-Patella syndrome features in a patient with a 9q33.3-q34.11 deletion.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSTXBP1\u8133\u75c7\u3068\u722a\u30fb\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\u306e\u5408\u4f75\u4f8b\u3092\u5831\u544a\u3057\u30019q33.3-q34.11\u6b20\u5931\u304c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068\u3092\u660e\u78ba\u306b\u793a\u3057\u305f\u91cd\u8981\u306a\u75c7\u4f8b\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mignot, C., et al.<\/strong> (2011). <em>Genetic and neurodevelopmental spectrum of STXBP1-associated epileptic encephalopathy.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSTXBP1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u5909\u7570\u304a\u3088\u3073\u6b20\u5931\uff09\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306e\u81e8\u5e8a\u50cf\u3092\u5305\u62ec\u7684\u306b\u89e3\u6790\u3057\u305f\u7814\u7a76\u30029q34\u6b20\u5931\u4f8b\u306b\u304a\u3051\u308b\u8868\u73fe\u578b\u306e\u7279\u5fb4\u306b\u3082\u8a00\u53ca\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bongers, E.M., et al.<\/strong> (2005). <em>Genotype-phenotype correlation in Nail-Patella syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u722a\u30fb\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3067\u3042\u308bLMX1B\u907a\u4f1d\u5b50\u306b\u3064\u3044\u3066\u3001\u5909\u7570\u3084\u6b20\u5931\u306b\u3088\u308b\u75c7\u72b6\u306e\u9055\u3044\u3084\u814e\u75c7\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u89e3\u6790\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Campbell, I.M., et al.<\/strong> (2012). <em>Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001\u89aa\u306e\u30e2\u30b6\u30a4\u30af\uff08\u4f53\u306e\u4e00\u90e8\u3060\u3051\u5909\u7570\u304c\u3042\u308b\u72b6\u614b\uff09\u304c\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3053\u3068\u3092\u6307\u6458\u3002\u672c\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306aDe novo\u5909\u7570\u3068\u601d\u308f\u308c\u305f\u30b1\u30fc\u30b9\u3067\u3082\u3001\u6b63\u78ba\u306a\u30ea\u30b9\u30af\u8a55\u4fa1\u306e\u91cd\u8981\u6027\u3092\u793a\u5506\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>9q34 deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30019q34\u9818\u57df\uff08STXBP1\u542b\u3080\uff09\u306e\u6b20\u5931\u306b\u3088\u308b\u75c7\u72b6\u3001\u3066\u3093\u304b\u3093\u7ba1\u7406\u3001\u7642\u80b2\u3001\u751f\u6d3b\u4e0a\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>GeneReviews\u00ae<\/strong>: <em>STXBP1 Encephalopathy with Epilepsy<\/em> \/ <em>Nail-Patella Syndrome<\/em> \/ <em>Hereditary Hemorrhagic Telangiectasia<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u3092\u69cb\u6210\u3059\u308b\u5404\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3092\u7db2\u7f85\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\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-17217","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\/17217","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\/17217\/revisions"}],"predecessor-version":[{"id":17219,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17217\/revisions\/17219"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17217"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}