{"id":16991,"date":"2026-01-21T03:43:34","date_gmt":"2026-01-21T03:43:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16991"},"modified":"2026-01-22T08:42:59","modified_gmt":"2026-01-22T08:42:59","slug":"2q21-1-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q21-1-deletion-syndrome\/","title":{"rendered":"2q21.1 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>2q21.1\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q21.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff082q21.1 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>2q21.1\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 2q21.1\uff09<\/li>\n\n\n\n<li>2\u756a\u67d3\u8272\u4f53\u9577\u815521.1\u9818\u57df\u6b20\u5931<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a2q21\u6b20\u5931\u75c7\u5019\u7fa4\uff082q21 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u7bc4\u56f2\u304c2q21.1\u3060\u3051\u3067\u306a\u304f\u3001\u96a3\u63a5\u3059\u308b2q21.2\u30842q21.3\u307e\u3067\u5e83\u304c\u308b\u5834\u5408\u3001\u3088\u308a\u5e83\u7bc4\u306a\u300c2q21\u6b20\u5931\u300d\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\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>2\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921.1\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\u306b\u3042\u308b\u300c21.1\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\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3011<\/p>\n\n\n\n<p>2\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u30b2\u30ce\u30e0\u30672\u756a\u76ee\u306b\u5927\u304d\u306a\u67d3\u8272\u4f53\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c2q21.1\u300d\u3068\u3044\u3046\u9818\u57df\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u6bd4\u8f03\u7684\u4ed8\u3051\u6839\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff09\u5bc4\u308a\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\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\u5fae\u7d30\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\u9818\u57df\u306b\u306f\u8133\u306e\u767a\u9054\u3084\u8eab\u4f53\u306e\u6a5f\u80fd\u7dad\u6301\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u3067\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SPTBN1 (Spectrin, Beta, Non-erythrocytic 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u8cac\u4efb\u907a\u4f1d\u5b50\u5019\u88dc<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u306e\u69cb\u9020\u7dad\u6301\u3084\u3001\u7d30\u80de\u5185\u306e\u8f38\u9001\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306f\u3001<strong>\u300c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u300d<\/strong>\u3001<strong>\u300c\u767a\u9054\u9045\u6ede\u300d<\/strong>\u3001\u304a\u3088\u3073**\u300c\u3066\u3093\u304b\u3093\u300d**\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SNCB (Synuclein Beta):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u4f1d\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3084\u8133\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MERTK (MER Proto-Oncogene, Tyrosine Kinase):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u8272\u7d20\u4e0a\u76ae\u7d30\u80de\u306e\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u300c\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u300d\u306e\u539f\u56e0\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u901a\u5e38\u306f\u52a3\u6027\u907a\u4f1d\uff08\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u30c0\u30e1\u306b\u306a\u3063\u305f\u6642\u306b\u767a\u75c7\uff09\u3067\u3059\u30022q21.1\u6b20\u5931\uff08\u7247\u65b9\u306e\u6b20\u5931\uff09\u306e\u307f\u3067\u76f4\u3061\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u304c\u3001\u4fdd\u56e0\u8005\u72b6\u614b\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CXCR4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u514d\u75ab\u7cfb\u3084\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u306b\u95a2\u308f\u308a\u307e\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u304c2q21.3\u65b9\u9762\u3078\u5e83\u304c\u3063\u305f\u5834\u5408\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001WHIM\u75c7\u5019\u7fa4\u306a\u3069\u3068\u306e\u95a2\u9023\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\uff08PubMed\u7b49\uff09\u306b\u304a\u3051\u308b\u300c2q21.1\u9650\u5c40\u6027\u306e\u6b20\u5931\u300d\u306e\u5831\u544a\u6570\u306f\u3001\u6570\u5341\u4f8b\u7a0b\u5ea6\u3068\u975e\u5e38\u306b\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>Orphanet\u306a\u3069\u306e\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\uff08&lt;1 \/ 1,000,000\uff09\u306e\u767a\u751f\u7387\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u75be\u60a3\u304c\u5b58\u5728\u3057\u306a\u3044\u300d\u3053\u3068\u3092\u610f\u5473\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u7279\u7570\u6027\u304c\u4f4e\u3044:<\/strong> \u7279\u5fb4\u7684\u306a\u5916\u898b\uff08\u5947\u5f62\u306a\u3069\uff09\u304c\u76ee\u7acb\u305f\u306a\u3044\u5834\u5408\u3001\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u3057\u3066\u8a3a\u65ad\u30fb\u6cbb\u7642\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u306e\u666e\u53ca:<\/strong> \u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u9ad8\u7cbe\u5ea6\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ol>\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>2q21.1 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u7cbe\u795e\u767a\u9054\u9045\u6ede\u300d\u300c\u3066\u3093\u304b\u3093\u300d\u300c\u6210\u9577\u969c\u5bb3\u300d**\u304c3\u5927\u7279\u5fb4\u3068\u8a00\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3082\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u767a\u9054\u3078\u306e\u660e\u78ba\u306a\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/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>\u5b66\u7fd2\u80fd\u529b\u3084\u3001\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u306b\u56f0\u96e3\u3092\u793a\u3057\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\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u59cb\u8a9e\uff08\u521d\u3081\u3066\u306e\u8a00\u8449\uff09\u304c\u9045\u304f\u3001\u6709\u610f\u5473\u8a9e\uff08\u610f\u5473\u306e\u3042\u308b\u5358\u8a9e\uff09\u304c\u5c11\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u3067\u306e\u8868\u73fe\u3088\u308a\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306e\u7406\u89e3\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306e\u65b9\u304c\u826f\u597d\u306a\u5834\u5408\u304c\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>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b69\u884c\u958b\u59cb\u304c2\u301c3\u6b73\u4ee5\u964d\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u72ec\u6b69\u3092\u7372\u5f97\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff08Seizures\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u7d04\u534a\u6570\u4ee5\u4e0a\u306b\u898b\u3089\u308c\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u6642\u671f\u306f\u4e73\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u3068\u69d8\u3005\u3067\u3001\u5168\u822c\u767a\u4f5c\u3084\u6b20\u795e\u767a\u4f5c\u306a\u3069\u30bf\u30a4\u30d7\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u306a\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u96e3\u6cbb\u6027\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3050\u306b\u3083\u3063\u3068\u3059\u308b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u969c\u5bb3\uff08\u30df\u30eb\u30af\u3092\u5438\u3046\u529b\u304c\u5f31\u3044\uff09\u306e\u539f\u56e0\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\uff08SGA\u5150\uff09\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\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u3048\u304c\u7de9\u3084\u304b\u3067\u3001<strong>\u4f4e\u8eab\u9577<\/strong>\u3084<strong>\u4f4e\u4f53\u91cd<\/strong>\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\uff08Small hands and feet\uff09\u3002<\/li>\n\n\n\n<li>\u6307\u306e\u77ed\u7e2e\u3084\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\uff08\u5185\u6e7e\u6307\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u306a\u3089\u5fc5\u305a\u3053\u306e\u9854\u300d\u3068\u3044\u3046\u307b\u3069\u7279\u7570\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u5e73\u5766\u306a\u9f3b\u6839\u90e8\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u7709\u6bdb\u304c\u6fc3\u3044\u3001\u307e\u305f\u306f\u5f13\u72b6\u3067\u3042\u308b\u3002<\/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:<\/strong> \u659c\u8996\u3001\u8fd1\u8996\u3001\u4e71\u8996\u3002\u7a00\u306b\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u306e\u30ea\u30b9\u30af\uff08MERTK\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3059\u308b\u5834\u5408\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong> \u6b6f\u4e26\u3073\u306e\u554f\u984c\u3001\u6b6f\u306e\u6b20\u640d\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u9762:<\/strong> \u591a\u52d5\u3001\u81ea\u9589\u50be\u5411\u3001\u5e38\u540c\u884c\u52d5\uff08\u624b\u3092\u3072\u3089\u3072\u3089\u3055\u305b\u308b\u306a\u3069\uff09\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\uff082q21.1\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u306e\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\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SPTBN1\u907a\u4f1d\u5b50\u4e0d\u8db3\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u9aa8\u7d44\u307f\u304c\u5f31\u304f\u306a\u308a\u3001\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u5f62\u6210\u3084\u60c5\u5831\u4f1d\u9054\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u884c\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u77e5\u7684\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\u306e\u539f\u56e0\u3068\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>2q21.1\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u90e8\u5206<\/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>\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u3084\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\u301c1%\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u91cf\u306f\u6b63\u5e38\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\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\u3082\u3042\u308a\u307e\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>\u81e8\u5e8a\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\u3001\u3066\u3093\u304b\u3093\u3001\u9854\u8c8c\uff09\u3060\u3051\u3067\u306f\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>2q21.1\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>SPTBN1<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08Parental Testing\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u6b20\u5931\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>\u3053\u308c\u306b\u3088\u308a\u3001\u300c\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u300d\u306a\u306e\u304b\u300c\u5bb6\u65cf\u6027\uff08Inherited\uff09\u300d\u306a\u306e\u304b\u304c\u5224\u660e\u3057\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u304c\u53ef\u80fd\u306b\u306a\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\u5305\u62ec\u7684\u306a\u7642\u80b2\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u7ba1\u7406\uff08\u3066\u3093\u304b\u3093\u6cbb\u7642\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6ce2\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001\u3042\u308b\u3044\u306f\u767a\u9054\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u5834\u5408\u3001\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u578b\u306b\u5408\u308f\u305b\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u767a\u9054\u3092\u5b88\u308a\u3001\u751f\u6d3b\u306e\u5b89\u5168\u3092\u78ba\u4fdd\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>\u8133\u306e\u53ef\u5851\u6027\u304c\u9ad8\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u305f\u3081\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u306b\u91cd\u70b9\u3092\u7f6e\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u3067\u3082\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30b5\u30a4\u30f3\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08VOCA\uff09\u306a\u3069\u306e**AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u304c\u3001\u884c\u52d5\u9762\u306e\u5b89\u5b9a\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u7dca\u5f35\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u8eab\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u7df4\u7fd2\u3057\u3001\u904b\u52d5\u6a5f\u80fd\u3092\u9ad8\u3081\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u751f\u6d3b\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u512a\u4f4d\uff08\u898b\u3066\u7406\u89e3\u3059\u308b\u306e\u304c\u5f97\u610f\uff09\u306a\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u8996\u899a\u7684\u306a\u652f\u63f4\u3092\u53d6\u308a\u5165\u308c\u305f\u5b66\u7fd2\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7642\u80b2\u624b\u5e33\u306e\u53d6\u5f97\u3084\u3001\u5150\u7ae5\u767a\u9054\u652f\u63f4\u3001\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u306a\u3069\u306e\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3092\u5229\u7528\u3057\u3001\u5bb6\u65cf\u306e\u30ec\u30b9\u30d1\u30a4\u30c8\uff08\u4f11\u606f\uff09\u3092\u542b\u3081\u305f\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u30fb\u4f53\u91cd\u3092\u5b9a\u671f\u7684\u306b\u8a08\u6e2c\u3057\u3001\u6804\u990a\u72b6\u614b\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u6442\u98df\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u6804\u990a\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u6b6f\u79d1\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u3001\u659c\u8996\u3084\u866b\u6b6f\u306a\u3069\u306e\u65e9\u671f\u767a\u898b\u30fb\u6cbb\u7642\u306b\u52aa\u3081\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>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306f\u60c5\u5831\u306e\u5c11\u306a\u3055\u306b\u4e0d\u5b89\u3084\u5b64\u72ec\u3092\u611f\u3058\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u3001\u75be\u60a3\u306e\u7279\u6027\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u300d\u3092\u300c\u75c5\u6c17\u300d\u3068\u3057\u3066\u3060\u3051\u3067\u306a\u304f\u3001\u300c\u305d\u306e\u5b50\u306e\u7279\u6027\u306e\u80cc\u666f\u306b\u3042\u308b\u4f53\u8cea\u300d\u3068\u3057\u3066\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u74b0\u5883\u3092\u6574\u3048\u308b\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\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>2q21.1 deletion syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\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\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4f53\u304c\u5c0f\u67c4\u3067\u3001\u72ec\u7279\u306e\u53ef\u611b\u3089\u3057\u3044\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u6642\u3001\u300c\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u306a\u3044\u300d\u3068\u805e\u3044\u3066\u3001\u5927\u304d\u306a\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u3089\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u6b20\u5931\u306f\u3001\u305d\u306e\u5b50\u306e\u300c\u5168\u3066\u300d\u3092\u6c7a\u3081\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u78ba\u304b\u306b\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u306f\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3061\u3001\u5bb6\u65cf\u3068\u306e\u7d46\u3092\u6df1\u3081\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u3064\u3044\u3066\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u9069\u5207\u306a\u6cbb\u7642\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u5897\u3084\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u65b9\u6cd5\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u306f\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u306b\u306f\u540c\u3058\u8a3a\u65ad\u540d\u306e\u4ef2\u9593\u304c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u30bb\u30e9\u30d4\u30b9\u30c8\u3001\u6559\u80b2\u8005\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u7126\u3089\u305a\u3001\u6bd4\u3079\u305a\u3001\u304a\u5b50\u3055\u3093\u306e\u65e5\u3005\u306e\u6210\u9577\u3092\u6e29\u304b\u304f\u898b\u5b88\u3063\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>Caselli, R., et al.<\/strong> (2018). <em>2q21.1 microdeletion syndrome: Report of a new patient and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u305f\u306a\u75c7\u4f8b\u5831\u544a\u306b\u52a0\u3048\u3001\u904e\u53bb\u306e\u6587\u732e\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u30012q21.1\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u91cd\u5ea6ID\u3001\u3066\u3093\u304b\u3093\u3001\u6210\u9577\u969c\u5bb3\u306a\u3069\uff09\u3092\u4f53\u7cfb\u5316\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Doco-Fenzy, M., et al.<\/strong> (2014). <em>2q21.1 microdeletion involving the SPTBN1 gene in a patient with severe intellectual disability and epilepsy.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSPTBN1\u907a\u4f1d\u5b50\u3092\u542b\u30802q21.1\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u8a73\u7d30\u306a\u89e3\u6790\u3002SPTBN1\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u795e\u7d4c\u75c7\u72b6\u306e\u4e3b\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u5f37\u304f\u793a\u5506\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Reddy, K.S., et al.<\/strong> (2011). <em>Phenotypic spectrum of 2q21.1 microdeletions: Five new patients and review.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b5\u540d\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001\u6b20\u5931\u30b5\u30a4\u30ba\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09\u306b\u3064\u3044\u3066\u691c\u8a0e\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Pescucci, C., et al.<\/strong> (2007). <em>2q21 deletion syndrome: description of a new case and review.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q21\u9818\u57df\u306e\u6b20\u5931\u306b\u95a2\u3059\u308b\u521d\u671f\u306e\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u3002\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u5074\u9762\u3092\u8003\u5bdf\u3057\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2q deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30012\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u5168\u822c\u306e\u75c7\u72b6\u3084\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u30022q21\u9818\u57df\u306b\u3064\u3044\u3066\u306e\u8a00\u53ca\u3042\u308a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>SPTBN1<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bSPTBN1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308b\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-16991","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\/16991","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16991\/revisions"}],"predecessor-version":[{"id":17605,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16991\/revisions\/17605"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16991"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}