{"id":17056,"date":"2026-01-21T05:39:29","date_gmt":"2026-01-21T05:39:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17056"},"modified":"2026-01-21T05:39:29","modified_gmt":"2026-01-21T05:39:29","slug":"3q26-q27-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3q26-q27-deletion-syndrome\/","title":{"rendered":"3q26-q27 deletion 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-q27\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>3q26-q27\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff083q26-q27 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>3q26.33-3q27.2\u6b20\u5931\u75c7\u5019\u7fa4\n<ul class=\"wp-block-list\">\n<li>\u203b\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u304c\u5831\u544a\u3055\u308c\u305f\u969b\u3001\u65b0\u305f\u306a\u75c7\u5019\u7fa4\u3068\u3057\u3066\u63d0\u5531\u3055\u308c\u305f\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>3q27.3\u6b20\u5931\u75c7\u5019\u7fa4\uff083q27.3 microdeletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b3q27\u9818\u57df\u306b\u9650\u5c40\u3057\u305f\u6b20\u5931\u3067\u3001\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\u306a\u3069\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u5358\u4f4d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>SOX2\u6b20\u5931\u75c7\u5019\u7fa4\uff08SOX2 deletion syndrome \/ SOX2 anophthalmia syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u7bc4\u56f2\u306b3q26.33\uff08SOX2\u907a\u4f1d\u5b50\uff09\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u773c\u7403\u7570\u5e38\u304c\u4e3b\u75c7\u72b6\u3068\u306a\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u306f\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>3q26-q27\u30e2\u30ce\u30bd\u30df\u30fc<\/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\u304b\u308927\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\u304b\u3089\u300c27\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\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\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u30b5\u30a4\u30ba\u304c\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3042\u308a\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5927\u304d\u304f\u5206\u3051\u30662\u3064\u306e\u91cd\u8981\u306a\u30b5\u30d6\u9818\u57df\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>3q26.33\u9818\u57df\uff08SOX2\u907a\u4f1d\u5b50\u3092\u542b\u3080\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>SOX2 (SRY-Box Transcription Factor 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u7403\u306e\u767a\u751f\u3084\u8133\u306e\u767a\u9054\u3092\u53f8\u308b\u30de\u30b9\u30bf\u30fc\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u3068\u3001**\u300c\u7121\u773c\u7403\u75c7\u30fb\u5c0f\u773c\u7403\u75c7\u300d**\u306a\u3069\u306e\u91cd\u7be4\u306a\u773c\u306e\u5f62\u6210\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>3q27\u9818\u57df\uff08SOX2\u3092\u542b\u307e\u306a\u3044\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u3067\u306f\u3001\u773c\u7403\u7570\u5e38\u306f\u898b\u3089\u308c\u305a\u3001\u4ee3\u308f\u308a\u306b**\u300c\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\uff08\u624b\u8db3\u304c\u7d30\u9577\u3044\uff09\u300d<strong>\u3084<\/strong>\u300c\u7cbe\u795e\u75c7\u72b6\uff08\u6c17\u5206\u969c\u5bb3\u306a\u3069\uff09\u300d**\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u300c3q27.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u533a\u5225\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u95a2\u9023\u907a\u4f1d\u5b50\u3068\u3057\u3066\u3001<em>EPHB3<\/em>\u3001<em>SST<\/em>\u306a\u3069\u304c\u5019\u88dc\u306b\u6319\u304c\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u5b8c\u5168\u306a\u89e3\u660e\u306b\u306f\u81f3\u3063\u3066\u3044\u307e\u305b\u3093\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>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\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\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u4ee5\u524d\u306f\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u304c\u5c11\u306a\u3044\uff08\u773c\u7403\u7570\u5e38\u304c\u306a\u3044\u5834\u5408\u306a\u3069\uff09\u8efd\u75c7\u4f8b\u304c\u898b\u9003\u3055\u308c\u3066\u3044\u305f\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u3082\u3046\u5c11\u3057\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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-q27 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u6210\u9577\u969c\u5bb3\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d<strong>\u3092\u5171\u901a\u57fa\u76e4\u3068\u3057\u3064\u3064\u3001<\/strong>\u300c\u773c\u7403\u7570\u5e38\u300d**\u306e\u6709\u7121\u306b\u3088\u3063\u3066\u5927\u304d\u304f2\u3064\u306e\u30bf\u30a4\u30d7\u306b\u5206\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5171\u901a\u3059\u308b\u7279\u5fb4\uff08General features\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306b\u95a2\u308f\u3089\u305a\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u6210\u9577\u969c\u5bb3\uff08Severe growth retardation\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\uff1a<\/strong> \u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u304c\u5c0f\u3055\u304f\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3067\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\uff1a<\/strong> \u751f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u60aa\u304f\u3001\u4f4e\u8eab\u9577\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u304b\u3089\u4e73\u5150\u671f\u306b\u304b\u3051\u3066\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u54fa\u4e73\u529b\u304c\u5f31\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u969c\u5bb3\uff08Feeding difficulties\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u3001\u56a5\u4e0b\u969c\u5bb3\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u306a\u3069\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u3001\u7d4c\u7ba1\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u9045\u308c\uff08GDD\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. SOX2\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5834\u5408\u306e\u7279\u5fb4\uff083q26.33\u6b20\u5931\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u7403\u5f62\u6210\u7570\u5e38\uff08Ocular anomalies\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7121\u773c\u7403\u75c7\uff08Anophthalmia\uff09\u307e\u305f\u306f\u5c0f\u773c\u7403\u75c7\uff08Microphthalmia\uff09<\/strong>\uff1a\u7247\u65b9\u307e\u305f\u306f\u4e21\u65b9\u306e\u773c\u7403\u304c\u5f62\u6210\u3055\u308c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u6975\u7aef\u306b\u5c0f\u3055\u3044\u72b6\u614b\u3002<\/li>\n\n\n\n<li>\u7db2\u819c\u5f62\u6210\u4e0d\u5168\u3084\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u306b\u3088\u308b\u91cd\u5ea6\u306e\u8996\u529b\u969c\u5bb3\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u98df\u9053\u9589\u9396\u75c7\u3001\u751f\u6b96\u5668\u4f4e\u5f62\u6210\uff08\u505c\u7559\u7cbe\u5de3\u3001\u5c0f\u9670\u830e\u306a\u3069\uff09\u3001\u8133\u6881\u6b20\u640d\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u300cSOX2\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u5168\u8eab\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. SOX2\u907a\u4f1d\u5b50\u3092\u542b\u307e\u306a\u3044\u5834\u5408\u306e\u7279\u5fb4\uff083q27\u6b20\u5931\u4e2d\u5fc3\uff09<\/strong><\/p>\n\n\n\n<p>\u773c\u7403\u7570\u5e38\u306f\u4f34\u3044\u307e\u305b\u3093\u304c\u3001\u72ec\u7279\u306e\u4f53\u578b\u3084\u7cbe\u795e\u9762\u306e\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\uff08Marfanoid habitus\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u75e9\u305b\u578b\u3067\u3001\u624b\u8db3\u306e\u6307\u304c\u7d30\u9577\u3044\uff08\u30af\u30e2\u72b6\u6307\uff09\u3002<\/li>\n\n\n\n<li>\u76ae\u4e0b\u8102\u80aa\u304c\u5c11\u306a\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u306e\u7279\u5fb4\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9762\u9577\uff08\u7d30\u9577\u3044\u9854\uff09\u3002<\/li>\n\n\n\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3002<\/li>\n\n\n\n<li>\u9ad8\u3044\u9f3b\u6881\u3001\u9df2\u9f3b\uff08Hooked nose\uff09\u3002<\/li>\n\n\n\n<li>\u77ed\u3044\u4eba\u4e2d\u3001\u8584\u3044\u4e0a\u5507\u3001\u4e0b\u984e\u7a81\u51fa\uff08\u3057\u3083\u304f\u308c\u3042\u3054\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u306e\u751f\u3048\u308b\u306e\u304c\u9045\u3044\uff08\u840c\u51fa\u9045\u5ef6\uff09\u3001\u4e73\u6b6f\u304c\u629c\u3051\u306a\u3044\u3001\u6b6f\u4e26\u3073\u304c\u60aa\u3044\uff08\u53e2\u751f\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6613\u611f\u67d3\u6027\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0a\u6c17\u9053\u611f\u67d3\uff08\u98a8\u90aa\u3084\u4e2d\u8033\u708e\uff09\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u30fb\u884c\u52d5\u9762\u306e\u7279\u5fb4\uff08\u91cd\u8981\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>ADHD\uff08\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff09\uff1a<\/strong> \u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3001\u4e0d\u6ce8\u610f\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong> \u793e\u4f1a\u6027\u306e\u82e6\u624b\u3055\u3001\u3053\u3060\u308f\u308a\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75c7\u72b6:<\/strong> \u601d\u6625\u671f\u4ee5\u964d\u3001\u6c17\u5206\u969c\u5bb3\uff08\u3046\u3064\u72b6\u614b\u306a\u3069\uff09\u3084\u7d71\u5408\u5931\u8abf\u75c7\u69d8\u75c7\u72b6\u3001\u7cbe\u795e\u75c5\u69d8\u75c7\u72b6\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u3001\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/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-q27\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>3q26-q27\u6b20\u5931\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>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u3053\u306e\u5834\u5408\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>\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u89aa\u81ea\u8eab\u304c\u30e2\u30b6\u30a4\u30af\uff08\u4f53\u306e\u4e00\u90e8\u3060\u3051\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u306b\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<p>\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c1\u30bb\u30c3\u30c8\uff08\u7247\u89aa\u5206\uff09\u3057\u304b\u306a\u304f\u306a\u308a\u3001\u6a5f\u80fd\u4e0d\u5168\u306b\u9665\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SOX2\u306e\u4e0d\u8db3:<\/strong> \u773c\u7403\u3084\u8133\u306e\u767a\u751f\u306b\u5fc5\u8981\u306a\u6307\u4ee4\u304c\u4e0d\u8db3\u3057\u3001\u5f62\u6210\u4e0d\u5168\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3:<\/strong> 3q27\u9818\u57df\u306e\u907a\u4f1d\u5b50\u4e0d\u8db3\u304c\u3001\u9aa8\u683c\u3084\u4ee3\u8b1d\u3001\u8133\u306e\u795e\u7d4c\u4f1d\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\u3084\u7cbe\u795e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\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>\u81e8\u5e8a\u75c7\u72b6\uff08\u6210\u9577\u969c\u5bb3\u3001\u773c\u7403\u7570\u5e38\u3001\u7279\u5fb4\u7684\u9854\u8c8c\uff09\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-q27\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08bp\u5358\u4f4d\uff09\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001<strong>SOX2\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b<\/strong>\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u306f\u3001\u4e88\u5f8c\uff08\u8996\u899a\u969c\u5bb3\u306e\u6709\u7121\uff09\u3092\u5224\u65ad\u3059\u308b\u4e0a\u3067\u6c7a\u5b9a\u7684\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09 \/ \u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u7403\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u3001SOX2\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u306a\u3069\u3092\u8abf\u3079\u308b\u904e\u7a0b\u3067\u3001\u67d3\u8272\u4f53\u6b20\u5931\uff08CNV\uff09\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\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>\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u7642\u80b2\u30fb\u652f\u63f4\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\uff08SOX2\u6b20\u5931\u4f8b\uff09<\/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>\u9854\u9762\u9aa8\u683c\uff08\u773c\u7aa9\uff09\u306e\u6b63\u5e38\u306a\u6210\u9577\u3092\u4fc3\u3059\u305f\u3081\u3001\u5e7c\u5c11\u671f\u304b\u3089\u7fa9\u773c\uff08\u30b3\u30f3\u30d5\u30a9\u30fc\u30de\u30fc\uff09\u3092\u88c5\u7740\u3057\u3001\u6bb5\u968e\u7684\u306b\u30b5\u30a4\u30ba\u3092\u5927\u304d\u304f\u3057\u3066\u3044\u304f\u62e1\u5f35\u5668\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f62\u6210\u5916\u79d1\u3084\u773c\u79d1\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8996\u899a\u767a\u9054\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\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\u8074\u899a\u3084\u89e6\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. \u6210\u9577\u30fb\u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306b\u5bfe\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3084\u3001\u91cd\u5ea6\u306e\u5834\u5408\u306f\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\uff09\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80c3\u98df\u9053\u9006\u6d41\u75c7\u306e\u6cbb\u7642\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u547c\u5438\u5668\u611f\u67d3\u3092\u7e70\u308a\u8fd4\u3059\u5834\u5408\u3001\u4e88\u9632\u63a5\u7a2e\u306e\u5fb9\u5e95\u3084\u3001\u65e9\u3081\u306e\u53d7\u8a3a\u3092\u5fc3\u304c\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u306e\u7570\u5e38\uff08\u53e2\u751f\u306a\u3069\uff09\u306b\u5bfe\u3057\u3001\u5b9a\u671f\u7684\u306a\u6b6f\u79d1\u691c\u8a3a\u3068\u77ef\u6b63\u6cbb\u7642\u306e\u76f8\u8ac7\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7cbe\u795e\u533b\u5b66\u7684\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff083q27\u6b20\u5931\u4f8b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u306b3q27\u9818\u57df\u306e\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u6c17\u5206\u306e\u5909\u5316\u3084\u884c\u52d5\u306e\u5909\u5316\u306b\u6ce8\u610f\u3092\u6255\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u3001\u3046\u3064\u3001\u5f15\u304d\u3053\u3082\u308a\u306a\u3069\u306e\u30b5\u30a4\u30f3\u304c\u3042\u308c\u3070\u3001\u65e9\u3081\u306b\u5150\u7ae5\u7cbe\u795e\u79d1\u3084\u7cbe\u795e\u79d1\u306b\u76f8\u8ac7\u3057\u3001\u74b0\u5883\u8abf\u6574\u3084\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u85ac\u7269\u7642\u6cd5\u3092\u884c\u3044\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>\u75be\u60a3\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff08\u7a81\u7136\u5909\u7570\u304b\u5bb6\u65cf\u6027\u304b\uff09\u3092\u78ba\u8a8d\u3057\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>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3084\u5229\u7528\u3067\u304d\u308b\u798f\u7949\u5236\u5ea6\u306b\u3064\u3044\u3066\u60c5\u5831\u3092\u6574\u7406\u3057\u3001\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u8efd\u6e1b\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-q27 deletion syndrome\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u6b20\u3051\u305f\u5834\u6240\u306b\u300cSOX2\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3067\u3001\u75c7\u72b6\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3057SOX2\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u76ee\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3001\u8996\u529b\u306b\u30cf\u30f3\u30c7\u30a3\u30ad\u30e3\u30c3\u30d7\u304c\u3042\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u5c0f\u3055\u306a\u9803\u304b\u3089\u7fa9\u773c\u3092\u4f7f\u3063\u3066\u76ee\u306e\u5468\u308a\u306e\u9aa8\u306e\u6210\u9577\u3092\u52a9\u3051\u305f\u308a\u3001\u8996\u899a\u3092\u4f7f\u308f\u306a\u3044\u904a\u3073\u3067\u767a\u9054\u3092\u4fc3\u3057\u305f\u308a\u3059\u308b\u30b1\u30a2\u304c\u5927\u5207\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001SOX2\u304c\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u5834\u5408\u306f\u3001\u76ee\u306e\u7570\u5e38\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u624b\u8db3\u304c\u307b\u3063\u305d\u308a\u3068\u9577\u304b\u3063\u305f\u308a\u3001\u5c11\u3057\u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u601d\u6625\u671f\u306e\u9803\u306b\u5fc3\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3057\u3084\u3059\u3044\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u304a\u3046\u3061\u306e\u65b9\u304c\u512a\u3057\u304f\u898b\u5b88\u308a\u3001\u5909\u5316\u306b\u6c17\u3065\u3044\u3066\u3042\u3052\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3069\u3061\u3089\u306e\u30bf\u30a4\u30d7\u3067\u3082\u3001\u751f\u307e\u308c\u305f\u6642\u306f\u4f53\u304c\u5c0f\u3055\u3081\u3067\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u82e6\u624b\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u3086\u3063\u304f\u308a\u3068\u4f53\u91cd\u3082\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u30da\u30fc\u30b9\u3082\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u7740\u5b9f\u306b\u5897\u3084\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u773c\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u5fc3\u7406\u58eb\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u3044\u3063\u305f\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u304c\u3001\u304a\u5b50\u3055\u3093\u3068\u3054\u5bb6\u65cf\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u3092\u7406\u89e3\u3057\u3001\u305d\u306e\u6210\u9577\u3092\u4e00\u7dd2\u306b\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>Slaats, I., et al.<\/strong> (2013). <em>3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?<\/em> European Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b3q26-q27\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3064\u60a3\u80053\u4f8b\u3092\u5831\u544a\u3057\u3001\u5171\u901a\u3059\u308b\u81e8\u5e8a\u7279\u5fb4\uff08\u4f4e\u7dca\u5f35\u3001\u6442\u98df\u969c\u5bb3\u3001\u9854\u8c8c\u3001\u6b6f\u306e\u7570\u5e38\uff09\u3092\u5b9a\u7fa9\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Jewell, R., et al.<\/strong> (2017). <em>3q27.3 microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature.<\/em> Clinical Dysmorphology.\n<ul class=\"wp-block-list\">\n<li>(\u203b3q27.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\u3092\u3055\u3089\u306b\u8a73\u7d30\u306b\u691c\u8a0e\u3057\u3001\u30a2\u30c8\u30d4\u30fc\u6027\u76ae\u819a\u708e\u306a\u3069\u306e\u514d\u75ab\u30fb\u76ae\u819a\u75c7\u72b6\u3068\u306e\u95a2\u9023\u3092\u793a\u5506\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lorda-Sanchez, I., et al.<\/strong> (2014). <em>3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q27.3\u9818\u57df\u306e\u6b20\u5931\u304c\u3001\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\u3084\u7cbe\u795e\u75c7\u72b6\uff08\u7cbe\u795e\u75c5\u3001\u6c17\u5206\u969c\u5bb3\uff09\u3068\u95a2\u9023\u3059\u308b\u3053\u3068\u3092\u660e\u78ba\u306b\u3057\u3001\u65b0\u305f\u306a\u75c7\u5019\u7fa4\u3068\u3057\u3066\u63d0\u5531\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>SOX2 Disorder<\/em>. Initial Posting: February 23, 2006; Last Update: January 20, 2022. <em>Authors: Williamson KA, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q26.33\u6b20\u5931\uff08SOX2\u6b20\u5931\uff09\u3092\u542b\u3080SOX2\u95a2\u9023\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u773c\u79d1\u7684\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>3q deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u6442\u98df\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc\u3001\u5404\u9818\u57df\u6b20\u5931\u3054\u3068\u306e\u7279\u5fb4\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>Orphanet<\/strong>: <em>3q26 microdeletion syndrome<\/em> \/ <em>3q27.3 microdeletion syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u304a\u3051\u308b\u75be\u60a3\u5b9a\u7fa9\u3068\u75ab\u5b66\u60c5\u5831\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-17056","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\/17056","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\/17056\/revisions"}],"predecessor-version":[{"id":17058,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17056\/revisions\/17058"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17056"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}