{"id":17004,"date":"2026-01-21T03:57:01","date_gmt":"2026-01-21T03:57:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17004"},"modified":"2026-01-21T03:57:01","modified_gmt":"2026-01-21T03:57:01","slug":"2q31-1-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q31-1-duplication-syndrome\/","title":{"rendered":"2q31.1 duplication 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>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q31.1\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff082q31.1 microduplication syndrome\uff09<\/li>\n\n\n\n<li>2q31.1\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 2q31.1\uff09<\/li>\n\n\n\n<li>\u88c2\u624b\u88c2\u8db3\u75c75\u578b\uff08Split hand\/foot malformation type 5; SHFM5\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u304c\u3001\u7279\u5b9a\u306e\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\uff08\u88c2\u624b\u30fb\u88c2\u8db3\uff09\u306e\u539f\u56e0\u3068\u306a\u308b\u305f\u3081\u3001\u3053\u306e\u75c5\u540d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>HOXD\u907a\u4f1d\u5b50\u7fa4\u91cd\u8907\u75c7\u5019\u7fa4\uff08HOXD cluster duplication syndrome\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a2q31.1\u6b20\u5931\u75c7\u5019\u7fa4\uff082q31.1 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u3058\u9818\u57df\u304c\u300c\u6b20\u5931\u300d\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u3053\u3061\u3089\u3082\u624b\u8db3\u306e\u7570\u5e38\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u3068\u306f\u7570\u306a\u308b\u7279\u5fb4\u3092\u793a\u3057\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>2\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0931.1\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c31.1\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\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aHOXD\u30af\u30e9\u30b9\u30bf\u30fc\u3011<\/p>\n\n\n\n<p>2q31.1\u9818\u57df\u306e\u91cd\u8907\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306b\u975e\u5e38\u306b\u8208\u5473\u6df1\u3044\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u52d5\u7269\u306e\u4f53\u306e\u5f62\uff08\u30dc\u30c7\u30a3\u30d7\u30e9\u30f3\uff09\u3092\u6c7a\u3081\u308b\u305f\u3081\u306e\u6700\u3082\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u30b0\u30eb\u30fc\u30d7\u306e\u4e00\u3064\u3067\u3042\u308b**\u300cHOX\uff08\u30db\u30dc\u30c3\u30af\u30b9\uff09\u907a\u4f1d\u5b50\u7fa4\u300d**\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HOXD gene cluster (HOXD1 \u301c HOXD13):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3051\u308b\u300c\u4e3b\u5f79\u300d\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>HOX\u907a\u4f1d\u5b50\u306f\u3001\u80ce\u5150\u671f\u306b\u300c\u4f53\u306e\u3069\u3053\u304b\u3089\u624b\u8db3\u3092\u751f\u3084\u3059\u304b\u300d\u300c\u6307\u3092\u4f55\u672c\u306b\u3059\u308b\u304b\u300d\u300c\u6307\u306e\u5f62\u3092\u3069\u3046\u3059\u308b\u304b\u300d\u3068\u3044\u3046\u6307\u4ee4\u3092\u51fa\u3059\u3001\u3044\u308f\u3070<strong>\u8eab\u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u76e3\u7763\u5f79<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b<em>HOXD13<\/em>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u306f\u3001\u624b\u8db3\u306e\u6307\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09:<\/strong> \u901a\u5e382\u30b3\u30d4\u30fc\u3067\u5b8c\u74a7\u306a\u30d0\u30e9\u30f3\u30b9\u3067\u4f5c\u3089\u308c\u308b\u624b\u8db3\u3067\u3059\u304c\u3001\u3053\u308c\u304c3\u30b3\u30d4\u30fc\uff08\u91cd\u8907\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u8a2d\u8a08\u56f3\u306e\u6307\u793a\u304c\u904e\u5270\u306b\u306a\u308a\u3001<strong>\u300c\u591a\u6307\u75c7\uff08\u6307\u304c\u591a\u3044\uff09\u300d\u3084\u300c\u5408\u6307\u75c7\uff08\u6307\u304c\u304f\u3063\u3064\u304f\uff09\u300d<\/strong>\u3001**\u300c\u88c2\u624b\u30fb\u88c2\u8db3\uff08\u6307\u304c\u6b20\u640d\u3057V\u5b57\u578b\u306b\u306a\u308b\uff09\u300d**\u3068\u3044\u3063\u305f\u8907\u96d1\u306a\u5f62\u614b\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>EVX2 (Even-Skipped Homeobox 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>HOXD<\/em>\u907a\u4f1d\u5b50\u7fa4\u306e\u3059\u3050\u96a3\u306b\u3042\u308a\u3001\u540c\u69d8\u306b\u56db\u80a2\u306e\u767a\u751f\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DLX1 \/ DLX2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\uff08\u7279\u306b\u524d\u8133\uff09\u306e\u767a\u9054\u3084\u9854\u9762\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u77e5\u7684\u969c\u5bb3\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CHRNA1 (Cholinergic Receptor Nicotinic Alpha 1 Subunit):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u306e\u52d5\u304d\u306b\u95a2\u308f\u308b\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u53d7\u5bb9\u4f53\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>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u3001\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u300c\u539f\u56e0\u4e0d\u660e\u306e\u624b\u8db3\u306e\u7570\u5e38\u300d\u3068\u3057\u3066\u6574\u5f62\u5916\u79d1\u3067\u6cbb\u7642\u3092\u53d7\u3051\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306e\u4e2d\u306b\u3001\u67d3\u8272\u4f53\u691c\u67fb\u304c\u884c\u308f\u308c\u3066\u3044\u306a\u3044\u672a\u8a3a\u65ad\u4f8b\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u3082\u3046\u5c11\u3057\u9ad8\u3044\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u6027\u5225\u306b\u95a2\u4fc2\u306a\u304f\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>2q31.1 duplication syndrome\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001**\u300c\u56db\u80a2\uff08\u624b\u8db3\uff09\u306e\u5f62\u614b\u7570\u5e38\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e\u591a\u304f\u306e\u67d3\u8272\u4f53\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u300c\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u3089\u306a\u3044\u300d\u3053\u3068\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u3001\u672c\u75be\u60a3\u306f\u51fa\u751f\u6642\u306b\u624b\u8db3\u306e\u7279\u5fb4\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u795e\u7d4c\u767a\u9054\u3078\u306e\u5f71\u97ff\u3082\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u56db\u80a2\u306e\u5f62\u614b\u7570\u5e38\uff08Limb Malformations\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\uff08\u5831\u544a\u306b\u3088\u3063\u3066\u306f100%\u8fd1\u304f\uff09\u306b\u3001\u4f55\u3089\u304b\u306e\u624b\u8db3\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u975e\u5e38\u306b\u591a\u69d8\u3067\u3001\u5de6\u53f3\u3067\u7570\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88c2\u624b\u30fb\u88c2\u8db3\uff08Split hand\/foot malformation; SHFM\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u3084\u8db3\u306e\u4e2d\u592e\u306e\u6307\uff08\u4e2d\u6307\u306a\u3069\uff09\u304c\u6b20\u640d\u3057\u3001\u6df1\u3044\u5207\u308c\u8fbc\u307f\u304c\u5165\u3063\u3066V\u5b57\u578b\uff08\u30ed\u30d6\u30b9\u30bf\u30fc\u306e\u722a\u306e\u3088\u3046\u306a\u5f62\uff09\u306b\u306a\u308b\u72b6\u614b\u3067\u3059\u3002\u533b\u5b66\u7684\u306b\u306f\u300cSHFM5\u300d\u3068\u3044\u3046\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u591a\u6307\u75c7\uff08Polydactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u306e\u672c\u6570\u304c\u591a\u3044\u72b6\u614b\u3067\u3059\u3002\u89aa\u6307\u5074\u306b\u591a\u3044\uff08\u8ef8\u524d\u6027\uff09\u5834\u5408\u3084\u3001\u5c0f\u6307\u5074\u306b\u591a\u3044\uff08\u8ef8\u5f8c\u6027\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<em>HOXD13<\/em>\u306e\u91cd\u8907\u3067\u3088\u304f\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\uff08Syndactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96a3\u308a\u5408\u3046\u6307\u540c\u58eb\u304c\u76ae\u819a\u3084\u9aa8\u3067\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u7b2c3\u6307\u3068\u7b2c4\u6307\u306e\u9593\u306a\u3069\u3067\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5408\u591a\u6307\u75c7\uff08Synpolydactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u6307\u75c7\u3068\u5408\u6307\u75c7\u304c\u5408\u4f75\u3057\u305f\u8907\u96d1\u306a\u5f62\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6307\u306e\u77ed\u7e2e\u30fb\u5f62\u6210\u4e0d\u5168\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u304c\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u3001\u6307\u306e\u95a2\u7bc0\u304c\u4e00\u3064\u8db3\u308a\u306a\u3044\u3001\u89aa\u6307\u306e\u4ed8\u3051\u6839\u304c\u9577\u3044\uff08Triphalangeal thumb\uff09\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u9996\u30fb\u8db3\u9996\u306e\u9aa8\u306e\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u6839\u9aa8\u3084\u8db3\u6839\u9aa8\u306e\u878d\u5408\u3084\u5909\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u7570\u5e38\u306b\u96a0\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u767a\u9054\u9762\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u72ed\u304f\u3001<em>HOXD<\/em>\u907a\u4f1d\u5b50\u7fa4\u306e\u307f\u306b\u9650\u5c40\u3057\u3066\u3044\u308b\u5834\u5408\uff08\u56db\u80a2\u7570\u5e38\u306e\u307f\uff09\u306f\u3001\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\uff08Normal IQ\uff09\u3067\u3042\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9006\u306b\u3001\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\uff08<em>DLX1\/2<\/em>\u306a\u3069\uff09\u3092\u542b\u3080\u5834\u5408\u306f\u3001\u77e5\u7684\u969c\u5bb3\u304c\u91cd\u304f\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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u51fa\u59cb\u3081\u304c\u9045\u3044\u50be\u5411\u304c\u3042\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>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8db3\u306e\u5f62\u614b\u7570\u5e38\u3082\u6b69\u884c\u306e\u9045\u308c\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u7570\u7684\u300d\u3068\u3044\u3046\u307b\u3069\u76ee\u7acb\u3064\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff1a<\/strong> \u982d\u304c\u5c0f\u3055\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7279\u5fb4\uff1a<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3001\u5c0f\u8033\u75c7\u3002<\/li>\n\n\n\n<li><strong>\u76ee\u306e\u7279\u5fb4\uff1a<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u773c\u77bc\u88c2\u72ed\u5c0f\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u306e\u7279\u5fb4\uff1a<\/strong> \u8584\u3044\u4e0a\u5507\u3001\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u3084\u53e3\u5507\u88c2\u306e\u5408\u4f75\u3082\u7a00\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u30fb\u6210\u9577<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8457\u3057\u3044\u4f4e\u8eab\u9577\uff08Short stature\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u810a\u67f1\u5074\u5f2f\u75c7\u3001\u80f8\u90ed\u306e\u5909\u5f62\u3001\u6a48\u5c3a\u9aa8\uff08\u8155\u306e\u9aa8\uff09\u306e\u7570\u5e38\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\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<p>\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u7387\u306f\u6bd4\u8f03\u7684\u4f4e\u3044\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\uff1a<\/strong> \u659c\u8996\u3001\u773c\u632f\u3001\u767d\u5185\u969c\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u7cfb\uff1a<\/strong> \u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u8133\u6881\u6b20\u640d\u306a\u3069\u306e\u8133\u69cb\u9020\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3\u30fb\u814e\u75be\u60a3\uff1a<\/strong> \u983b\u5ea6\u306f\u4f4e\u3044\u3067\u3059\u304c\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u9577\u8155\uff082q31.1\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. HOX\u907a\u4f1d\u5b50\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08\u904e\u5270\u767a\u73fe\uff09<\/strong><\/p>\n\n\n\n<p>\u767a\u751f\u751f\u7269\u5b66\u306b\u304a\u3044\u3066\u3001HOX\u907a\u4f1d\u5b50\u306f\u300c\u30e2\u30eb\u30d5\u30a9\u30b2\u30f3\uff08\u5f62\u614b\u5f62\u6210\u56e0\u5b50\uff09\u300d\u3068\u3057\u3066\u50cd\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u80ce\u5150\u306e\u624b\u8db3\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u7d30\u80de\u5185\u306eHOXD\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6fc3\u5ea6\u52fe\u914d\uff08\u6fc3\u3044\u304b\u8584\u3044\u304b\uff09\u306b\u3088\u3063\u3066\u3001\u300c\u3053\u3053\u306f\u89aa\u6307\u300d\u300c\u3053\u3053\u306f\u5c0f\u6307\u300d\u3068\u3044\u3046\u904b\u547d\u304c\u6c7a\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u3053\u306e\u6fc3\u5ea6\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6307\u3092\u4f5c\u308b\u6307\u4ee4\u304c\u904e\u5270\u306b\u51fa\u3059\u304e\u3066\u300c\u591a\u6307\u75c7\u300d\u306b\u306a\u3063\u305f\u308a\u3001\u6307\u3092\u5206\u96e2\u3059\u308b\u6307\u4ee4\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u306b\u300c\u5408\u6307\u75c7\u300d\u3084\u300c\u88c2\u624b\u300d\u306b\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u3088\u3046\u306b\u3001\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u591a\u3059\u304e\u308b\u3053\u3068\u304c\u5f62\u614b\u7570\u5e38\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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>\u591a\u304f\u306e\u30b1\u30fc\u30b9\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<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u3067\u306f\u3001**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d**\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308b\uff08\u89aa\u306f\u8efd\u3044\u5408\u6307\u75c7\u3060\u3051\u3001\u5b50\u306f\u91cd\u3044\u88c2\u624b\u88c2\u8db3\u75c7\u306a\u3069\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3092**\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08Variable Expressivity\uff09\u300d<strong>\u3084<\/strong>\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\u300d**\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u3078\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u51fa\u751f\u6642\u306b\u7279\u5fb4\u7684\u306a\u624b\u8db3\u306e\u7570\u5e38\uff08\u88c2\u624b\u3001\u591a\u6307\u306a\u3069\uff09\u304c\u3042\u308b\u5834\u5408\u306b\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>2q31.1\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>HOXD<\/em>\u907a\u4f1d\u5b50\u7fa4\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u3068\u5408\u308f\u305b\u3066\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\uff08\u9aa8\u306e\u5f62\uff09\u306e\u95a2\u9023\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\uff08X-ray\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u9aa8\u306e\u69cb\u9020\u3092\u8a73\u7d30\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6307\u306e\u6570\u3060\u3051\u3067\u306a\u304f\u3001\u4e2d\u624b\u9aa8\u3084\u624b\u6839\u9aa8\u306e\u878d\u5408\u3084\u6b20\u640d\u306a\u3069\u3001\u5916\u898b\u304b\u3089\u306f\u5206\u304b\u3089\u306a\u3044\u9aa8\u306e\u7570\u5e38\u3092\u8a55\u4fa1\u3057\u3001\u624b\u8853\u8a08\u753b\u306b\u5f79\u7acb\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u624b\u8db3\u306b\u8efd\u5fae\u306a\u7279\u5fb4\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3068\u3068\u3082\u306b\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3092\u884c\u3044\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>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u624b\u8db3\u306e\u6a5f\u80fd\u3092\u6539\u5584\u3059\u308b\u5916\u79d1\u7684\u6cbb\u7642\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\uff09\u3068\u3001\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u624b\u8db3\u306e\u6cbb\u7642\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306b\u6700\u3082\u91cd\u8981\u306a\u6cbb\u7642\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u8853\u306e\u76ee\u7684:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5358\u306b\u898b\u305f\u76ee\u3092\u6574\u3048\u308b\u3060\u3051\u3067\u306a\u304f\u3001**\u300c\u3064\u307e\u3080\u300d\u300c\u63e1\u308b\u300d\u300c\u6b69\u304f\u300d**\u3068\u3044\u3063\u305f\u6a5f\u80fd\u3092\u7372\u5f97\u30fb\u6539\u5584\u3059\u308b\u3053\u3068\u3092\u6700\u512a\u5148\u306b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8853\u306e\u6642\u671f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u306e\u72b6\u614b\u3084\u6210\u9577\u5ea6\u5408\u3044\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u6307\u306e\u5206\u96e2\u306a\u3069\u306f\u751f\u5f8c6\u30f6\u6708\u301c2\u6b73\u9803\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u8db3\u306e\u624b\u8853\u306f\u3001\u9774\u304c\u5c65\u3051\u308b\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u3084\u3001\u6b69\u884c\u306e\u5b89\u5b9a\u6027\u3092\u76ee\u6307\u3057\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8853\u5f8c\u306e\u30cf\u30f3\u30c9\u30bb\u30e9\u30d4\u30fc\u3084\u3001\u88c5\u5177\u7642\u6cd5\u3092\u884c\u3044\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u624b\u306e\u4f7f\u3044\u65b9\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u304c\u3042\u308b\u5834\u5408\u3001\u307e\u305f\u306f\u624b\u8db3\u306e\u7570\u5e38\u306b\u3088\u308a\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u306e\u5f62\u614b\u306b\u5408\u308f\u305b\u3066\u3001\u30b9\u30d7\u30fc\u30f3\u3084\u925b\u7b46\u306a\u3069\u306e\u81ea\u52a9\u5177\uff08\u4f7f\u3044\u3084\u3059\u304f\u5de5\u592b\u3055\u308c\u305f\u9053\u5177\uff09\u3092\u4f5c\u6210\u3057\u305f\u308a\u3001\u9053\u5177\u306e\u64cd\u4f5c\u7df4\u7fd2\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u898b\u3078\u306e\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u5f62\u304c\u4eba\u3068\u9055\u3046\u3053\u3068\u306b\u5bfe\u3057\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u304a\u5b50\u3055\u3093\u81ea\u8eab\u304c\u60a9\u3080\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80af\u5b9a\u7684\u306a\u81ea\u5df1\u30a4\u30e1\u30fc\u30b8\u3092\u6301\u3066\u308b\u3088\u3046\u306a\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3084\u3001\u5b66\u6821\u3067\u306e\u5468\u56f2\u3078\u306e\u7406\u89e3\u3092\u4fc3\u3059\u50cd\u304d\u304b\u3051\u304c\u91cd\u8981\u3067\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\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\uff08\u8868\u73fe\u578b\u306e\u5dee\u7570\uff09\u3084\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u624b\u8db3\u306e\u7570\u5e38\u300d\u306f\u907a\u4f1d\u6027\u75be\u60a3\u306e\u4e2d\u3067\u3082\u76ee\u306b\u898b\u3048\u308b\u7279\u5fb4\u3067\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u5185\u3067\u306e\u845b\u85e4\u304c\u751f\u3058\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5c02\u9580\u5bb6\u306b\u3088\u308b\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u542b\u3081\u305f\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5927\u5207\u3067\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>2q31.1 duplication syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u4f53\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308bHOX\u907a\u4f1d\u5b50\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u624b\u3084\u8db3\u306e\u5f62\u304c\u30e6\u30cb\u30fc\u30af\u3067\u3042\u308b\u3053\u3068\u3067\u3059\u3002\u6307\u304c\u591a\u304b\u3063\u305f\u308a\u3001\u304f\u3063\u3064\u3044\u3066\u3044\u305f\u308a\u3001V\u5b57\u578b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306f\u3001\u51fa\u7523\u76f4\u5f8c\u306b\u624b\u8db3\u3092\u898b\u3066\u9a5a\u304d\u3001\u6238\u60d1\u308f\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u73fe\u5728\u306e\u533b\u7642\u6280\u8853\uff08\u5f62\u6210\u5916\u79d1\u3084\u6574\u5f62\u5916\u79d1\uff09\u306f\u975e\u5e38\u306b\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u624b\u8853\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u3063\u3066\u3001\u624b\u8db3\u306e\u6a5f\u80fd\u3092\u5927\u304d\u304f\u6539\u5584\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3064\u307e\u3080\u300d\u300c\u66f8\u304f\u300d\u300c\u6b69\u304f\u300d\u3068\u3044\u3063\u305f\u52d5\u4f5c\u3082\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u5de5\u592b\u3084\u30b5\u30dd\u30fc\u30c8\u9053\u5177\uff08\u81ea\u52a9\u5177\uff09\u3092\u4f7f\u3048\u3070\u3001\u9a5a\u304f\u307b\u3069\u5668\u7528\u306b\u3053\u306a\u305b\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3086\u3063\u304f\u308a\u306a\u304c\u3089\u3082\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u5f62\u306f\u3001\u305d\u306e\u5b50\u306e\u500b\u6027\u306e\u4e00\u90e8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6a5f\u80fd\u7684\u306a\u4e0d\u4fbf\u3055\u306f\u533b\u7642\u3068\u7642\u80b2\u3067\u89e3\u6d88\u3057\u3064\u3064\u3001\u304a\u5b50\u3055\u3093\u304c\u81ea\u5206\u306e\u624b\u8db3\u3092\u80af\u5b9a\u7684\u306b\u6349\u3048\u3001\u81ea\u4fe1\u3092\u6301\u3063\u3066\u793e\u4f1a\u3067\u6d3b\u8e8d\u3067\u304d\u308b\u3088\u3046\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u3054\u5bb6\u65cf\u3067\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>Goodman, F.R., et al.<\/strong> (2002). <em>Synpolydactyly phenotypes correlated with genomic expansions and contractions of the HOXD locus.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bHOXD\u907a\u4f1d\u5b50\u5ea7\u306e\u91cd\u8907\uff08Expansion\uff09\u304c\u591a\u6307\u75c7\u3084\u5408\u6307\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u89e3\u660e\u3057\u305f\u3001\u767a\u751f\u907a\u4f1d\u5b66\u306e\u57fa\u790e\u3068\u306a\u308b\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kantaputra, P.N., et al.<\/strong> (2010). <em>Split hand\/foot malformation type 5 and the HOXD gene cluster.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q31.1\u9818\u57df\u306e\u91cd\u8907\u3068\u88c2\u624b\u88c2\u8db3\u75c7\uff08SHFM5\uff09\u306e\u95a2\u9023\u3092\u8a73\u7d30\u306b\u691c\u8a0e\u3057\u305f\u81e8\u5e8a\u7814\u7a76\u3002HOXD13\u907a\u4f1d\u5b50\u4ee5\u5916\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u3082\u8003\u5bdf\u3057\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Dlugosz-Szymczak, T., et al.<\/strong> (2011). <em>A novel 2q31.1 duplication associated with split-hand\/foot malformation type 5 and intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSHFM5\u3068\u77e5\u7684\u969c\u5bb3\u3092\u5408\u4f75\u3057\u305f\u60a3\u8005\u306e\u75c7\u4f8b\u5831\u544a\u3002\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\u3092\u7528\u3044\u3066\u91cd\u8907\u7bc4\u56f2\u3068\u81e8\u5e8a\u50cf\u306e\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09\u3092\u5206\u6790\u3057\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Boudry-Labis, E., et al.<\/strong> (2013). <em>Genotype-phenotype correlations in 2q31.1 microdeletion\/microduplication syndromes.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q31.1\u9818\u57df\u306e\u6b20\u5931\u3068\u91cd\u8907\u3092\u6bd4\u8f03\u3057\u3001HOXD\u30af\u30e9\u30b9\u30bf\u30fc\u304c\u56db\u80a2\u5f62\u6210\u306b\u4e0e\u3048\u308b\u91cf\u7684\u306a\u5f71\u97ff\uff08Dosage effect\uff09\u3092\u4f53\u7cfb\u7684\u306b\u307e\u3068\u3081\u305f\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2q31.1 microduplications<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u624b\u8db3\u306e\u6cbb\u7642\u306e\u6d41\u308c\u3001\u81ea\u52a9\u5177\u306e\u6d3b\u7528\u3001\u5b66\u6821\u751f\u6d3b\u3067\u306e\u914d\u616e\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>HOXD13<\/em>, <em>HOXD Cluster<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bHOXD\u907a\u4f1d\u5b50\u7fa4\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08\u91cd\u8907\u306b\u3088\u308b\u5f71\u97ff\uff09\u304c\u56db\u80a2\u5947\u5f62\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\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-17004","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\/17004","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17004\/revisions"}],"predecessor-version":[{"id":17007,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17004\/revisions\/17007"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17004"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}