{"id":17052,"date":"2026-01-21T05:35:06","date_gmt":"2026-01-21T05:35:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17052"},"modified":"2026-01-21T05:35:30","modified_gmt":"2026-01-21T05:35:30","slug":"3q26-microduplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3q26-microduplication-syndrome\/","title":{"rendered":"3q26 microduplication 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>3q26\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>3q26\u91cd\u8907\u75c7\u5019\u7fa4\uff083q26 duplication syndrome\uff09<\/li>\n\n\n\n<li>3q26\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 3q26\uff09<\/li>\n\n\n\n<li>3q26\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff083q26 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>SOX2\u91cd\u8907\u75c7\u5019\u7fa4\uff08SOX2 duplication syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b3q26.33\u9818\u57df\u306b\u3042\u308b<em>SOX2<\/em>\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u773c\u7403\u7570\u5e38\u306a\u3069\u306e\u4e3b\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u305f\u3081\u3001\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08Cornelia de Lange syndrome; CdLS\uff09\u69d8\u8868\u73fe\u578b\n<ul class=\"wp-block-list\">\n<li>\u203b3q26\u3092\u542b\u30803\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u91cd\u8907\u306f\u3001CdLS\u306b\u3088\u304f\u4f3c\u305f\u5916\u898b\uff08\u591a\u6bdb\u3001\u7279\u5fb4\u7684\u9854\u8c8c\uff09\u3092\u5448\u3059\u308b\u305f\u3081\u3001\u9451\u5225\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a3q\u91cd\u8907\u75c7\u5019\u7fa4\uff08Duplication 3q syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u3088\u308a\u5e83\u7bc4\u56f2\uff083q21-qter\u306a\u3069\uff09\u306e\u91cd\u8907\u306e\u4e00\u90e8\u3068\u3057\u30663q26\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>3\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0926\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e3\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c26\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\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>3q26\u9818\u57df\uff083q26.1, 3q26.2, 3q26.3\uff09\u306f\u3001\u767a\u751f\u751f\u7269\u5b66\u7684\u306b\u975e\u5e38\u306b\u91cd\u8981\u306a\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306e\u5c40\u6240\u7684\u306a\u3082\u306e\u304b\u3089\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u53ca\u3076\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3001\u7279\u306b\u300c\u76ee\u300d\u3068\u300c\u9854\u3064\u304d\u300d\u306e\u7279\u5fb4\u3092\u6c7a\u5b9a\u3065\u3051\u308b\u8cac\u4efb\u907a\u4f1d\u5b50\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SOX2 (SRY-Box Transcription Factor 2):<\/strong> 3q26.33\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u80ce\u5150\u671f\u306b\u304a\u3051\u308b<strong>\u773c\u7403\u306e\u767a\u751f<\/strong>\u3001\u8133\u4e0b\u5782\u4f53\u3084\u524d\u8133\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u30de\u30b9\u30bf\u30fc\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>SOX2<\/em>\u306f\u300c\u5c11\u306a\u3059\u304e\u3066\u3082\uff08\u6b20\u5931\uff09\u3001\u591a\u3059\u304e\u3066\u3082\uff08\u91cd\u8907\uff09\u3001\u6b63\u5e38\u306a\u773c\u304c\u4f5c\u3089\u308c\u306a\u3044\u300d\u3068\u3044\u3046\u3001\u91cf\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u975e\u5e38\u306b\u30b7\u30d3\u30a2\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931:<\/strong> \u7121\u773c\u7403\u75c7\u30fb\u5c0f\u773c\u7403\u75c7\u75c7\u5019\u7fa4\uff08SOX2 Anophthalmia Syndrome\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09:<\/strong> \u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u91cd\u8907\u3057\u3066\u3082\u540c\u69d8\u306b**\u300c\u5c0f\u773c\u7403\u75c7\u300d<strong>\u3084<\/strong>\u300c\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u773c\u306e\u6b20\u640d\uff09\u300d**\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u904e\u5270\u306aSOX2\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b63\u5e38\u306a\u767a\u751f\u30d7\u30ed\u30bb\u30b9\u3092\u963b\u5bb3\u3059\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TNFSF10 (TRAIL):<\/strong> 3q26.32\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u306e\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u30d7\u30ed\u30b0\u30e9\u30e0\u6b7b\uff09\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NAALADL2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08CdLS\uff09\u69d8\u306e\u9854\u8c8c\u3084\u591a\u6bdb\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3068\u3057\u3066\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ECT2 \/ PIK3CA:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u5897\u6b96\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u904e\u6210\u9577\u3084\u7279\u5b9a\u306e\u304c\u3093\u30ea\u30b9\u30af\u3068\u306e\u95a2\u9023\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5148\u5929\u6027\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u5f79\u5272\u306f\u8907\u96d1\u3067\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>3\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u90e8\u5206\u91cd\u8907\u5168\u4f53\u3068\u3057\u3066\u306f\u4e16\u754c\u3067\u6570\u767e\u4f8b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u300c3q26\u5fae\u7d30\u91cd\u8907\u300d\u3068\u3057\u3066\u9650\u5c40\u3057\u305f\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u773c\u7403\u7570\u5e38\uff08\u5c0f\u773c\u7403\u306a\u3069\uff09\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306b\u5bfe\u3057\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u884c\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u3067\u3001\u767a\u898b\u6570\u306f\u5897\u52a0\u50be\u5411\u306b\u3042\u308a\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>3q26 microduplication syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u773c\u7403\u306e\u5f62\u6210\u7570\u5e38\u300d\u300c\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u69d8\u306e\u9854\u8c8c\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u5185\u81d3\u75be\u60a3\u300d**\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001SOX2\u907a\u4f1d\u5b50\u3092\u542b\u3080\u304b\u3069\u3046\u304b\u3067\u3001\u76ee\u306e\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u7403\u30fb\u8996\u899a\u306e\u7570\u5e38\uff08Ocular anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u533b\u5b66\u7684\u6ce8\u610f\u3092\u8981\u3059\u308b\u75c7\u72b6\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u773c\u7403\u75c7\uff08Microphthalmia\uff09 \/ \u7121\u773c\u7403\u75c7\uff08Anophthalmia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7247\u65b9\u307e\u305f\u306f\u4e21\u65b9\u306e\u773c\u7403\u304c\u751f\u307e\u308c\u3064\u304d\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u6210\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>SOX2<\/em>\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u4f8b\u3067\u7279\u306b\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3076\u3069\u3046\u819c\u30b3\u30ed\u30dc\u30fc\u30de\uff08Coloboma\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\uff08\u8336\u76ee\uff09\u3084\u7db2\u819c\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u72b6\u614b\uff08\u9375\u7a74\u306e\u3088\u3046\u306a\u77b3\u5b54\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767d\u5185\u969c\u3001\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3001\u659c\u8996\u3001\u773c\u632f\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u4ecb\u5165\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u76ae\u819a\u6240\u898b\uff08CdLS\u69d8\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08CdLS\uff09\u300d\u306b\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305f\u304a\u9854\u7acb\u3061\u3084\u76ae\u819a\u306e\u7279\u5fb4\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6bdb\u75c7\uff08Hypertrichosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u8eab\u306e\u6bdb\u304c\u6fc3\u3044\u3001\u80cc\u4e2d\u3084\u984d\u306b\u7523\u6bdb\u304c\u591a\u3044\u3001\u9aea\u306e\u6bdb\u306e\u751f\u3048\u969b\u304c\u4f4e\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7709\u30fb\u307e\u3064\u6bdb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9023\u7709\uff08Synophrys\uff09\uff1a<\/strong> \u5de6\u53f3\u306e\u7709\u6bdb\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u6fc3\u3044\u7709\u6bdb\u3001\u9577\u304f\u30ab\u30fc\u30eb\u3057\u305f\u307e\u3064\u6bdb\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b\u30fb\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6881\u304c\u5e83\u3044\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\uff08\u77ed\u9f3b\uff09\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3001\u307e\u305f\u306f\u5e73\u5766\u3002<\/li>\n\n\n\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\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\u8033\u4ecb\u306e\u5909\u5f62\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<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>SOX2<\/em>\u91cd\u8907\u306e\u307f\u306e\u9650\u5c40\u4f8b\u3067\u306f\u8efd\u5ea6\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u91cd\u5ea6\u306b\u306a\u308b\u50be\u5411\u304c\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>\u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u3068\u3082\u306b\u9045\u308c\u307e\u3059\u3002\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3084\u3001\u8eab\u632f\u308a\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u4e2d\u5fc3\u306b\u306a\u308b\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\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u3092\u4f34\u3044\u3001\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u6210\u9577\u30fb\u9aa8\u683c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u4f53\u91cd\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u5f8c\u3082\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3084\u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6442\u98df\u969c\u5bb3\uff08\u54fa\u4e73\u56f0\u96e3\u3001\u80c3\u98df\u9053\u9006\u6d41\uff09\u304c\u5f71\u97ff\u3057\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u3002<\/li>\n\n\n\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\u3001\u77ed\u6307\u75c7\uff08\u6307\u304c\u77ed\u3044\uff09\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u3002<\/li>\n\n\n\n<li>\u80a1\u95a2\u7bc0\u5f62\u6210\u4e0d\u5168\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/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\u7d0440-50%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5c3f\u8def\u751f\u6b96\u5668:<\/strong> \u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3001\u814e\u5947\u5f62\uff08\u6c34\u814e\u75c7\u3001\u4f4e\u5f62\u6210\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong> \u8178\u56de\u8ee2\u7570\u5e38\u75c7\u3001\u5e7d\u9580\u72ed\u7a84\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong> \u96e3\u8074\u306e\u5408\u4f75\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>3\u756a\u67d3\u8272\u4f53\u9577\u8155\uff083q26\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<\/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>3q26\u5fae\u7d30\u91cd\u8907\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>3q26\u3092\u542b\u3080\u5e83\u7bc4\u56f2\u306a\u91cd\u8907\uff083q21-q26\u306a\u3069\uff09\u306e\u5834\u5408\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c**\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d<strong>\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u3084<\/strong>\u300c\u9006\u4f4d\u300d**\u3092\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u67d3\u8272\u4f53\u306e\u4e0d\u5747\u8861\u304c\u751f\u3058\u3084\u3059\u304f\u3001\u304d\u3087\u3046\u3060\u3044\u3067\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\uff08\u6570%\u301c\u6570\u5341%\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08Triplosensitivity\uff09<\/strong><\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306f\u300c\u591a\u3051\u308c\u3070\u826f\u3044\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u901a\u5e382\u30b3\u30d4\u30fc\u3042\u308b\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u5897\u3048\u3059\u304e\u3001\u6b63\u5e38\u306a\u767a\u751f\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u72c2\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SOX2\u306e\u30d1\u30e9\u30c9\u30c3\u30af\u30b9:<\/strong> \u901a\u5e38\u3001\u907a\u4f1d\u5b50\u304c\u300c\u6b20\u5931\u300d\u3059\u308b\u3068\u6a5f\u80fd\u4e0d\u5168\u306b\u306a\u308a\u307e\u3059\u304c\u3001<em>SOX2<\/em>\u306b\u95a2\u3057\u3066\u306f\u300c\u91cd\u8907\u300d\u3057\u3066\u3082\u300c\u6b20\u5931\u300d\u3068\u540c\u3058\u3088\u3046\u306a\u75c7\u72b6\uff08\u5c0f\u773c\u7403\u306a\u3069\uff09\u304c\u51fa\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u773c\u7403\u5f62\u6210\u306e\u3088\u3046\u306a\u7cbe\u5bc6\u306a\u30d7\u30ed\u30bb\u30b9\u306b\u304a\u3044\u3066\u3001<em>SOX2<\/em>\u306e\u91cf\u304c\u53b3\u5bc6\u306b\u4e00\u5b9a\u7bc4\u56f2\u5185\u306b\u5236\u5fa1\u3055\u308c\u3066\u3044\u308b\u5fc5\u8981\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u904e\u5270\u306a<em>SOX2<\/em>\u306f\u3001\u773c\u7403\u306e\u3082\u3068\u3068\u306a\u308b\u7d30\u80de\u306e\u5206\u5316\u3092\u59a8\u3052\u3066\u3057\u307e\u3046\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u773c\u7403\u7570\u5e38\uff08\u5c0f\u773c\u7403\uff09\u300d\u300c\u591a\u6bdb\u30fb\u9023\u7709\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\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>3q26\u9818\u57df\u306e\u91cd\u8907\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<strong>SOX2\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b<\/strong>\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>SOX2<\/em>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u773c\u79d1\u7684\u306a\u4e88\u5f8c\u7ba1\u7406\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9 \/ FISH\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u5f8c\u3001\u305d\u308c\u304c\u300c\u7a81\u7136\u5909\u7570\u300d\u306a\u306e\u304b\u300c\u89aa\u306e\u8ee2\u5ea7\u7531\u6765\u300d\u306a\u306e\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3084\u3001\u89aa\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ \u30a8\u30b3\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u7403\u306e\u69cb\u9020\uff08\u8996\u795e\u7d4c\u306e\u72b6\u614b\uff09\u3001\u8133\u3001\u5fc3\u81d3\u3001\u814e\u81d3\u306e\u5947\u5f62\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\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\uff08\u7279\u306b\u773c\u3068\u5fc3\u81d3\uff09\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u6700\u5927\u9650\u306b\u4fc3\u3059\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u79d1\u7684\u6cbb\u7642\u30fb\u8996\u899a\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u773c\u7403\u30fb\u7121\u773c\u7403\u306e\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u304c\u6b8b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u5f31\u8996\u6cbb\u7642\uff08\u773c\u93e1\u88c5\u7528\u306a\u3069\uff09\u3092\u884c\u3044\u3001\u4fdd\u6709\u8996\u529b\u3092\u6700\u5927\u9650\u306b\u6d3b\u7528\u3067\u304d\u308b\u3088\u3046\u306b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u7403\u304c\u975e\u5e38\u306b\u5c0f\u3055\u3044\u5834\u5408\u3001\u9854\u9762\u9aa8\u683c\uff08\u773c\u7aa9\uff09\u306e\u6210\u9577\u3092\u4fc3\u3059\u305f\u3081\u306b\u3001\u7fa9\u773c\uff08\u30b3\u30f3\u30d5\u30a9\u30fc\u30de\u30fc\uff09\u3092\u6bb5\u968e\u7684\u306b\u5927\u304d\u304f\u3057\u3066\u3044\u304f\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8996\u899a\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u899a\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u76f2\u5b66\u6821\u3084\u8996\u899a\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3068\u9023\u643a\u3057\u3001\u89e6\u899a\u3084\u8074\u899a\u3092\u6d3b\u7528\u3057\u305f\u767a\u9054\u652f\u63f4\uff08\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u5fc3\u75be\u60a3:<\/strong> \u85ac\u7269\u7642\u6cd5\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong> \u54fa\u4e73\u56f0\u96e3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306b\u5bfe\u3057\u3001\u7d4c\u7ba1\u6804\u990a\u3084\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c3f\u8def\u751f\u6b96\u5668:<\/strong> \u505c\u7559\u7cbe\u5de3\u306e\u624b\u8853\u3084\u3001\u814e\u6a5f\u80fd\u306e\u30d5\u30a9\u30ed\u30fc\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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\u65e9\u671f\u304b\u3089\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>\u8996\u899a\u3092\u8003\u616e\u3057\u305f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u3001\u4e00\u822c\u7684\u306a\u7642\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u8996\u899a\u969c\u5bb3\u5150\u5411\u3051\u306b\u30a2\u30ec\u30f3\u30b8\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\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>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u8074\u899a\u3084\u89e6\u899a\u3092\u4f7f\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u30b5\u30a4\u30f3\u3001\u5b9f\u7269\u63d0\u793a\u306a\u3069\uff09\u3092\u53d6\u308a\u5165\u308c\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>\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u57fa\u3065\u304d\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6027\u306e\u8ee2\u5ea7\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u3082\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3084\u3001\u5229\u7528\u3067\u304d\u308b\u798f\u7949\u5236\u5ea6\uff08\u8eab\u4f53\u969c\u5bb3\u8005\u624b\u5e33\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u306e\u60c5\u5831\u3092\u6574\u7406\u3057\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>3q26 microduplication syndrome\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u30ad\u30ea\u30c3\u3068\u3057\u305f\u6fc3\u3044\u7709\u6bdb\u3084\u9577\u3044\u307e\u3064\u6bdb\u3001\u5c11\u3057\u6bdb\u6df1\u3044\u3068\u3044\u3063\u305f\u3001\u3068\u3066\u3082\u5370\u8c61\u7684\u3067\u611b\u3089\u3057\u3044\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u751f\u307e\u308c\u3064\u304d\u300c\u76ee\u300d\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3001\u8996\u529b\u306b\u5f71\u97ff\u304c\u51fa\u308b\u5f62\u3092\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u533b\u5b66\u7684\u306b\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u76ee\u306e\u3053\u3068\u3084\u767a\u9054\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\u76ee\u306f\u5c0f\u3055\u304f\u3066\u3082\u3001\u9069\u5207\u306a\u30b1\u30a2\uff08\u7fa9\u773c\u8abf\u6574\u3084\u8996\u899a\u652f\u63f4\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u6b8b\u3055\u308c\u305f\u611f\u899a\u3092\u30d5\u30eb\u306b\u4f7f\u3063\u3066\u4e16\u754c\u3092\u8a8d\u8b58\u3057\u3001\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\u306a\u3069\u3082\u3001\u533b\u7642\u306e\u529b\u3067\u7ba1\u7406\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3067\u3042\u308bSOX2\u907a\u4f1d\u5b50\u306f\u3001\u5897\u3048\u3059\u304e\u3066\u3082\u6e1b\u308a\u3059\u304e\u3066\u3082\u76ee\u306b\u5f71\u97ff\u3059\u308b\u3068\u3044\u3046\u4e0d\u601d\u8b70\u306a\u6027\u8cea\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3053\u3068\u304c\u5206\u304b\u3063\u305f\u304a\u304b\u3052\u3067\u3001\u7684\u78ba\u306a\u8a3a\u65ad\u3068\u4e88\u6e2c\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u3001\u5ea7\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3001\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3068\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u30b9\u30c6\u30c3\u30d7\u3092\u7740\u5b9f\u306b\u9032\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u8996\u899a\u652f\u63f4\u306e\u5c02\u9580\u5bb6\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\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>Toudjarska, I., et al.<\/strong> (2001). <em>Molecular analysis of a 3q26.3-q27 duplication in a patient with clinical features of Cornelia de Lange syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q26\u91cd\u8907\u304cCdLS\u69d8\u9854\u8c8c\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u89e3\u6790\u3057\u3001SOX2\u907a\u4f1d\u5b50\u8fd1\u508d\u306e\u91cd\u8981\u6027\u3092\u793a\u5506\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Faas, B.H., et al.<\/strong> (2002). <em>Evaluation of the 3q21q26 duplication syndrome\/Cornelia de Lange syndrome phenotype correlation.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q\u91cd\u8907\u75c7\u5019\u7fa4\u3068CdLS\u306e\u81e8\u5e8a\u7684\u30fb\u907a\u4f1d\u5b66\u7684\u95a2\u9023\u3092\u8a73\u7d30\u306b\u691c\u8a0e\u3057\u305f\u6587\u732e\u30023q26\u9818\u57df\u304cCdLS\u69d8\u8868\u73fe\u578b\u306e\u4e2d\u5fc3\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Doco-Fenzy, M., et al.<\/strong> (2010). <em>A 3q26.31-q27.3 microduplication associated with early-onset severe intra-uterine growth retardation, mental retardation and congenital heart defects.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q26\u5fae\u7d30\u91cd\u8907\u60a3\u8005\u306e\u75c7\u4f8b\u5831\u544a\u3002\u91cd\u5ea6\u306e\u6210\u9577\u969c\u5bb3\u3084\u5fc3\u75be\u60a3\u306a\u3069\u306e\u81e8\u5e8a\u7279\u5fb4\u3092\u8a73\u7d30\u306b\u8a18\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kantarci, S., et al.<\/strong> (2010). <em>Microphthalmia associated with 3q26.33 microduplication involving the SOX2 gene.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSOX2\u907a\u4f1d\u5b50\u3092\u542b\u30803q26.33\u5fae\u7d30\u91cd\u8907\u304c\u5c0f\u773c\u7403\u75c7\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3092\u660e\u78ba\u306b\u3057\u3001SOX2\u306e\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Triplosensitivity\uff09\u3092\u8a3c\u660e\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>Duplications of 3q<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u8996\u899a\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc\u3001\u7642\u80b2\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>ClinGen Dosage Sensitivity Curation<\/strong>: <em>SOX2<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bSOX2\u907a\u4f1d\u5b50\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08\u91cd\u8907\u306b\u3088\u308b\u75c5\u539f\u6027\uff09\u306b\u95a2\u3059\u308b\u79d1\u5b66\u7684\u8a55\u4fa1\u3002\u91cd\u8907\u304c\u773c\u7403\u7570\u5e38\u3084\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u30a8\u30d3\u30c7\u30f3\u30b9\u304c\u8a55\u4fa1\u3055\u308c\u3066\u3044\u308b\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-17052","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\/17052","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\/17052\/revisions"}],"predecessor-version":[{"id":17054,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17052\/revisions\/17054"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17052"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}