{"id":17224,"date":"2026-01-21T08:54:05","date_gmt":"2026-01-21T08:54:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17224"},"modified":"2026-01-22T08:24:26","modified_gmt":"2026-01-22T08:24:26","slug":"alpha-thalassemia-mental-retardation-syndrome-chromosome-16-related-atr-16-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/alpha-thalassemia-mental-retardation-syndrome-chromosome-16-related-atr-16-syndrome\/","title":{"rendered":"Alpha-thalassemia\/mental retardation syndrome, chromosome 16-related (ATR-16 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><strong>ATR-16\u75c7\u5019\u7fa4\uff08ATR-16 syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u6700\u3082\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b\u7565\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\uff0816p13.3 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u67d3\u8272\u4f53\u306e\u6b20\u5931\u90e8\u4f4d\u306b\u57fa\u3065\u3044\u305f\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>HbH\u75c5\u3092\u4f34\u3046\u7cbe\u795e\u9045\u6ede\uff08Hemoglobin H disease with mental retardation\uff09<\/li>\n\n\n\n<li>\u30a2\u30eb\u30d5\u30a1\u30fb\u30b5\u30e9\u30bb\u30df\u30a2\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\uff08\u975e\u6b20\u5931\u578b\u3092\u9664\u304f\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3010\u91cd\u8981\uff1a\u6df7\u540c\u3057\u3084\u3059\u3044\u75be\u60a3\uff08\u9451\u5225\u75be\u60a3\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ATR-X\u75c7\u5019\u7fa4\uff08Alpha-thalassemia X-linked intellectual disability syndrome\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u540d\u524d\u304c\u975e\u5e38\u306b\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u5168\u304f\u7570\u306a\u308b\u75be\u60a3<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>ATR-16\u306f\u300c16\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u300d\u304c\u539f\u56e0\u3067\u3059\u304c\u3001ATR-X\u306f\u300cX\u67d3\u8272\u4f53\u4e0a\u306e<em>ATRX<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u300d\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li>ATR-X\u306f\u6027\u9023\u9396\u6027\u907a\u4f1d\u3067\u3042\u308a\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u898b\u3089\u308c\u307e\u3059\u3002ATR-16\u3068\u306e\u9451\u5225\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u660e\u78ba\u306b\u884c\u308f\u308c\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>16\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u5148\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u3042\u308b\u300c13.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u5927\u304d\u304f\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3011<\/p>\n\n\n\n<p>ATR-16\u75c7\u5019\u7fa4\u306f\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u304c\u58ca\u308c\u305f\u306e\u3067\u306f\u306a\u304f\u3001\u96a3\u308a\u5408\u3046\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3046**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d**\u306e\u5178\u578b\u4f8b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u3059\u308b\u7bc4\u56f2\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001800kb\u304b\u30892Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u4ee5\u4e0a\u306b\u53ca\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3068\u6570\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HBA1 \/ HBA2 (Alpha-globin genes):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u8d64\u8840\u7403\u306e\u4e2d\u306b\u3042\u308b\u300c\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff08\u9178\u7d20\u3092\u904b\u3076\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u300d\u306e\u69cb\u6210\u6210\u5206\u3067\u3042\u308b\u300c\u03b1\u30b0\u30ed\u30d3\u30f3\u9396\u300d\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u03b1\u30b0\u30ed\u30d3\u30f3\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u305a\u3001**\u300c\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\uff08\u8ca7\u8840\uff09\u300d**\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SOX8:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u795e\u7d4c\u7cfb\u306e\u767a\u751f\u3084\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u306e\u4e00\u56e0\u3068\u306a\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LUC7L \/ ITFG3\u306a\u3069:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5468\u8fba\u306b\u3042\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3082\u3001\u9854\u8c8c\u306e\u7279\u5fb4\u3084\u767a\u9054\u3078\u306e\u5f71\u97ff\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u8a73\u7d30\u306a\u6a5f\u80fd\u306f\u7814\u7a76\u6bb5\u968e\u306e\u3082\u306e\u3082\u3042\u308a\u307e\u3059\uff09\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>\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u81ea\u4f53\u306f\u3001\u30de\u30e9\u30ea\u30a2\u6d41\u884c\u5730\u57df\uff08\u6771\u5357\u30a2\u30b8\u30a2\u3001\u5730\u4e2d\u6d77\u6cbf\u5cb8\u3001\u30a2\u30d5\u30ea\u30ab\u306a\u3069\uff09\u306b\u30eb\u30fc\u30c4\u3092\u6301\u3064\u4eba\u3005\u306b\u591a\u3044\u75be\u60a3\u3067\u3059\u304c\u3001ATR-16\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u300c\u5927\u304d\u306a\u6b20\u5931\u300d\u306b\u3088\u308b\u30b1\u30fc\u30b9\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u5831\u544a\u6570\u3082\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u65e5\u672c\u56fd\u5185\u3067\u3082\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>ATR-16\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u305d\u306e\u540d\u306e\u901a\u308a**\u300c\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\uff08\u8840\u6db2\u306e\u75c7\u72b6\uff09\u300d<strong>\u3068<\/strong>\u300c\u7cbe\u795e\u9045\u6ede\uff08\u8133\u30fb\u767a\u9054\u306e\u75c7\u72b6\uff09\u300d**\u306e2\u3064\u304c\u5927\u304d\u306a\u67f1\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u52a0\u3048\u3066\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8840\u6db2\u5b66\u7684\u7279\u5fb4\uff1a\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\uff08Alpha-thalassemia\uff09<\/strong><\/p>\n\n\n\n<p>ATR-16\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u5fc5\u305a\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u7d20\u56e0\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d2\u30c8\u306f\u901a\u5e38\u300116\u756a\u67d3\u8272\u4f53\u306b2\u3064\u305a\u3064\u3001\u5408\u8a084\u3064\u306e\u03b1\u30b0\u30ed\u30d3\u30f3\u907a\u4f1d\u5b50\u3092\u6301\u3063\u3066\u3044\u307e\u3059\uff08\u7236\u65b92\u3064\u3001\u6bcd\u65b92\u3064\uff09\u3002<\/li>\n\n\n\n<li>ATR-16\u75c7\u5019\u7fa4\u3067\u306f\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306e\u5148\u7aef\u304c\u6b20\u5931\u3059\u308b\u305f\u3081\u30012\u3064\u306e\u907a\u4f1d\u5b50\uff08<em>HBA1, HBA2<\/em>\uff09\u304c\u540c\u6642\u306b\u5931\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u75c7\u72b6\u306e\u51fa\u65b9:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u75c7\u578b\uff08\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u7279\u6027\uff09:<\/strong> \u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u306a\u5834\u5408\u3001\u5408\u8a082\u3064\u306e\u907a\u4f1d\u5b50\u304c\u6b8b\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u8efd\u5ea6\u306e\u5c0f\u7403\u6027\u8ca7\u8840\uff08\u8d64\u8840\u7403\u304c\u5c0f\u3055\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u7a0b\u5ea6\u3067\u3001\u8f38\u8840\u306a\u3069\u306f\u4e0d\u8981\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>HbH\u75c5\uff08Hemoglobin H disease\uff09:<\/strong> \u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\u306b\u3082\u4e00\u822c\u7684\u306a\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u3001\u5408\u8a083\u3064\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u6eb6\u8840\u6027\u8ca7\u8840\uff08\u8d64\u8840\u7403\u304c\u58ca\u308c\u3084\u3059\u3044\uff09\u304c\u751f\u3058\u3001\u813e\u81d3\u306e\u816b\u5927\u3084\u9ec4\u75b8\u3001\u8f38\u8840\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u4e00\u822c\u7684\u306a\u9244\u6b20\u4e4f\u6027\u8ca7\u8840\u3068\u9593\u9055\u308f\u308c\u3084\u3059\u3044\u3067\u3059\u304c\u3001\u9244\u5264\u3092\u98f2\u3093\u3067\u3082\u6539\u5584\u3057\u307e\u305b\u3093\uff08\u3080\u3057\u308d\u9244\u904e\u5270\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\uff09\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<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\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f<strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u7406\u89e3\u3084\u8868\u73fe\u306b\u304a\u3044\u3066\u3001\u5e74\u9f62\u76f8\u5fdc\u306e\u767a\u9054\u3088\u308a\u3082\u3086\u3063\u304f\u308a\u306a\u30da\u30fc\u30b9\u3068\u306a\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\u3084\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\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\u9854\u8c8c\u300d\u3068\u3055\u308c\u307e\u3059\u304c\u3001ATR-X\u75c7\u5019\u7fa4\u307b\u3069\u7279\u5fb4\u7684\u3067\u76ee\u7acb\u3064\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u4e21\u89aa\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\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>\u773c:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e83\u304f\u5e73\u5766\u3001\u9f3b\u6881\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3001\u5c0f\u3055\u306a\u8033\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8:<\/strong> \u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7b4b\u9aa8\u683c\u30fb\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u53cd\u8db3\uff08Clubfoot \/ Talipes equinovarus\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8db3\u306e\u88cf\u304c\u5185\u5074\u3092\u5411\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6bd4\u8f03\u7684\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77ed\u6307\u75c7\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\uff08Clinodactyly\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7537\u5150\u306b\u304a\u3044\u3066\u3001\u505c\u7559\u7cbe\u5de3\uff08\u30bf\u30de\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u3084\u5c3f\u9053\u4e0b\u88c2\uff08\u304a\u3057\u3063\u3053\u306e\u51fa\u53e3\u304c\u305a\u308c\u3066\u3044\u308b\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>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u524d\u5f8c\u306e\u767a\u80b2\u9045\u5ef6\u3084\u3001\u5c0f\u67c4\u306a\u4f53\u683c\uff08\u4f4e\u8eab\u9577\uff09\u304c\u898b\u3089\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>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\uff0816p13.3\uff09\u306b\u304a\u3051\u308b\u5927\u898f\u6a21\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>\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\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\u67d3\u8272\u4f53\u306e\u5207\u65ad\uff08\u6b20\u5931\uff09\u3067\u3059\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\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u7531\u6765\uff09\uff1a\u91cd\u8981<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c**\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d**\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u6bd4\u8f03\u7684\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f8b\u3048\u3070\u3001\u89aa\u306e16\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u3068\u3001\u5225\u306e\u67d3\u8272\u4f53\u306e\u5148\u7aef\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u5834\u5408\u3067\u3059\u3002\u89aa\u81ea\u8eab\u306f\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u5909\u308f\u3089\u306a\u3044\u306e\u3067\u5065\u5eb7\u3067\u3059\u304c\u3001\u5b50\u306b\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u969b\u306b\u300116\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u90e8\u5206\u304c\u8db3\u308a\u306a\u304f\u306a\u3063\u305f\u308a\uff08\u6b20\u5931\uff09\u3001\u904e\u5270\u306b\u306a\u3063\u305f\u308a\uff08\u91cd\u8907\uff09\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u672c\u8cea\u306f\u3001<em>HBA<\/em>\u907a\u4f1d\u5b50\u3084<em>SOX8<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u304c\u7247\u65b9\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u7dad\u6301\u3059\u308b\u306e\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u03b1\u30b0\u30ed\u30d3\u30f3\u907a\u4f1d\u5b50\u306f\u91cf\u306b\u654f\u611f\u3067\u3042\u308a\u3001\u6570\u304c\u6e1b\u308b\u3068\u5373\u5ea7\u306b\u8840\u6db2\u691c\u67fb\u30c7\u30fc\u30bf\u306b\u53cd\u6620\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u306b\u300c\u5c0f\u7403\u6027\u8ca7\u8840\uff08\u9244\u6b20\u4e4f\u3067\u306f\u306a\u3044\uff09\u300d\u304c\u5408\u4f75\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u7b97\uff08CBC\uff09\uff1a<\/strong> MCV\uff08\u8d64\u8840\u7403\u306e\u5927\u304d\u3055\uff09\u3068MCH\uff08\u8d64\u8840\u7403\u4e2d\u306e\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u91cf\uff09\u304c\u4f4e\u5024\u3092\u793a\u3057\u307e\u3059\uff08\u5c0f\u7403\u6027\u4f4e\u8272\u7d20\u6027\u8ca7\u8840\uff09\u3002<\/li>\n\n\n\n<li><strong>\u30d5\u30a7\u30ea\u30c1\u30f3:<\/strong> \u9244\u6b20\u4e4f\u6027\u8ca7\u8840\u3068\u306e\u9451\u5225\u306e\u305f\u3081\u6e2c\u5b9a\u3057\u307e\u3059\u3002ATR-16\u3067\u306f\u6b63\u5e38\u307e\u305f\u306f\u9ad8\u5024\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u96fb\u6c17\u6cf3\u52d5:<\/strong> HbH\uff08\u7570\u5e38\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff09\u306e\u51fa\u73fe\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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>16p13.3\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>HBA1\/2<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001CMA\u3084FISH\u6cd5\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u63a8\u5968\u3055\u308c\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\u8840\u6db2\u75c7\u72b6\u3068\u767a\u9054\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8840\u6db2\u5b66\u7684\u7ba1\u7406\uff08\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u306b\u5bfe\u3057\u3066\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ca7\u8840\u306e\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u901a\u5e38\u306eATR-16\u75c7\u5019\u7fa4\uff082\u907a\u4f1d\u5b50\u6b20\u5931\u76f8\u5f53\uff09\u3067\u3042\u308c\u3070\u3001\u8ca7\u8840\u306f\u8efd\u5ea6\u3067\u3042\u308a\u3001\u7279\u5225\u306a\u6cbb\u7642\u306f\u4e0d\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u3063\u305f\u6642\u306a\u3069\u306b\u4e00\u6642\u7684\u306b\u8ca7\u8840\u304c\u9032\u3080\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HbH\u75c5\u306e\u5834\u5408:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8ca7\u8840\u304c\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8449\u9178\u306e\u6295\u4e0e\u3084\u3001\u8457\u3057\u3044\u8ca7\u8840\u6642\u306e\u8f38\u8840\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7981\u5fcc\uff08\u3084\u3063\u3066\u306f\u3044\u3051\u306a\u3044\u3053\u3068\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9244\u5264\u306e\u6295\u4e0e:<\/strong> \u9244\u6b20\u4e4f\u6027\u8ca7\u8840\u3068\u8aa4\u8a3a\u3057\u3066\u9244\u5264\u3092\u98f2\u307f\u7d9a\u3051\u308b\u3068\u3001\u4f53\u5185\u306b\u9244\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3057\u3001\u81d3\u5668\u969c\u5bb3\uff08\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\uff09\u3092\u8d77\u3053\u3059\u5371\u967a\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u4e0d\u5fc5\u8981\u306a\u9244\u5264\u6295\u4e0e\u306f\u907f\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\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>\u8a3a\u65ad\u5f8c\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u8a9e\u5f59\u3092\u5897\u3084\u3059\u8a13\u7df4\u3084\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u305f\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u306b\u57fa\u3065\u304d\u3001\u5f97\u610f\u306a\u90e8\u5206\u3092\u4f38\u3070\u3059\u6559\u80b2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5916\u79d1\u7684\u30fb\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u53cd\u8db3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ae\u30d7\u30b9\u77ef\u6b63\u3084\u88c5\u5177\u7642\u6cd5\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\uff08\u30a2\u30ad\u30ec\u30b9\u8171\u5207\u65ad\u8853\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u6cbb\u7642\u304c\u6b69\u884c\u7372\u5f97\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u505c\u7559\u7cbe\u5de3\u30fb\u5c3f\u9053\u4e0b\u88c2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3044\u3001\u6a5f\u80fd\u3068\u6574\u5bb9\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u30b5\u30e9\u30bb\u30df\u30a2\u300d\u3068\u300c\u7cbe\u795e\u9045\u6ede\u300d\u3068\u3044\u30462\u3064\u306e\u5074\u9762\u3092\u6301\u3064\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u3092\u8aac\u660e\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a71\u3057\u5408\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306bATR-X\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\uff08\u4e88\u5f8c\u3084\u907a\u4f1d\u5f62\u5f0f\u304c\u5168\u304f\u9055\u3046\uff09\u3092\u660e\u78ba\u306b\u3057\u3001\u6df7\u4e71\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3044\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\u308a\u307e\u3059\u3002\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u30ea\u30b9\u30af\u3084\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u60c5\u5831\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Alpha-thalassemia\/mental retardation syndrome, chromosome 16-related (ATR-16\u75c7\u5019\u7fa4)\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\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\u300c\u8ca7\u8840\uff08\u30b5\u30e9\u30bb\u30df\u30a2\uff09\u300d\u3068\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u304c\u30bb\u30c3\u30c8\u3067\u73fe\u308c\u308b\u306e\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8ca7\u8840\u3068\u3044\u3063\u3066\u3082\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u8efd\u5ea6\u3067\u3001\u9244\u5206\u4e0d\u8db3\u306e\u8ca7\u8840\u3068\u306f\u6027\u8cea\u304c\u9055\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u9244\u5264\u3092\u98f2\u3080\u5fc5\u8981\u306f\u306a\u304f\uff08\u3080\u3057\u308d\u98f2\u3093\u3067\u306f\u3044\u3051\u307e\u305b\u3093\uff09\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3060\u3051\u3067\u5143\u6c17\u306b\u904e\u3054\u305b\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3001\u904b\u52d5\u304c\u5c11\u3057\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u751f\u307e\u308c\u305f\u6642\u306b\u8db3\u306e\u5411\u304d\u304c\u5185\u5074\u3092\u5411\u3044\u3066\u3044\u308b\uff08\u5185\u53cd\u8db3\uff09\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306b\u306f\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u8840\u6db2\u306e\u75c5\u6c17\u3068\u767a\u9054\u306e\u9045\u308c\u3068\u3044\u30462\u3064\u306e\u5fc3\u914d\u4e8b\u304c\u91cd\u306a\u308b\u3053\u3068\u306f\u3001\u5927\u304d\u306a\u4e0d\u5b89\u306e\u7a2e\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306b\u4f34\u3046\u8ca7\u8840\u306f\u7ba1\u7406\u53ef\u80fd\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u767a\u9054\u306b\u3064\u3044\u3066\u3082\u3001\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u304a\u5b50\u3055\u3093\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5185\u53cd\u8db3\u3084\u505c\u7559\u7cbe\u5de3\u306a\u3069\u306e\u5408\u4f75\u75c7\u3082\u3001\u624b\u8853\u306a\u3069\u306e\u9069\u5207\u306a\u6cbb\u7642\u3067\u304d\u308c\u3044\u306b\u6cbb\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u300c\u9244\u6b20\u4e4f\u6027\u8ca7\u8840\u3067\u306f\u306a\u3044\u300d\u3053\u3068\u3092\u5468\u56f2\u306e\u533b\u7642\u8005\uff08\u304b\u304b\u308a\u3064\u3051\u533b\u306a\u3069\uff09\u306b\u3082\u77e5\u3063\u3066\u3082\u3089\u3044\u3001\u9069\u5207\u306a\u7ba1\u7406\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u8840\u6db2\u5185\u79d1\u533b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Wilkie, A.O., et al.<\/strong> (1990). <em>Clinical features and molecular analysis of the alpha thalassemia\/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bATR-16\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u3001ATR-X\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\u3092\u660e\u78ba\u306b\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u6982\u5ff5\u78ba\u7acb\u306b\u304a\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gibbons, R.J., et al.<\/strong> (1995). <em>Susceptibility to alpha-thalassemia\/mental retardation syndrome 16 (ATR-16) is associated with a specific haplotype of the alpha-globin gene cluster.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b16\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u03b1\u30b0\u30ed\u30d3\u30f3\u907a\u4f1d\u5b50\u30af\u30e9\u30b9\u30bf\u30fc\u306e\u6b20\u5931\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u3001\u81e8\u5e8a\u50cf\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u7814\u7a76\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Harteveld, C.L., et al.<\/strong> (2007). <em>The hemoglobin H disease family: clinical and genetic aspects.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bHbH\u75c5\u3092\u542b\u3080\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u81e8\u5e8a\u7684\u30fb\u907a\u4f1d\u7684\u5074\u9762\u3092\u5305\u62ec\u7684\u306b\u30ec\u30d3\u30e5\u30fc\u3057\u305f\u8ad6\u6587\u3002ATR-16\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u8840\u6db2\u5b66\u7684\u7ba1\u7406\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>16p13 deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u300116p13.3\u6b20\u5931\uff08ATR-16\u542b\u3080\uff09\u306e\u7279\u5fb4\u3001\u8ca7\u8840\u3078\u306e\u5bfe\u5fdc\u3001\u767a\u9054\u652f\u63f4\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Alpha-thalassemia-intellectual disability syndrome composed of chromosome 16-related<\/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\u3001\u75ab\u5b66\u60c5\u5831\u3001\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u60c5\u5831\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae<\/strong>: <em>Alpha-Thalassemia<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u8a3a\u65ad\u3001\u75c5\u578b\u5206\u985e\u3001\u7ba1\u7406\u6307\u91dd\u3092\u7db2\u7f85\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002ATR-16\u75c7\u5019\u7fa4\u3092\u542b\u3080\u75c7\u5019\u6027\u30b5\u30e9\u30bb\u30df\u30a2\u306e\u8a18\u8ff0\u3042\u308a\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-17224","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\/17224","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\/17224\/revisions"}],"predecessor-version":[{"id":17598,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17224\/revisions\/17598"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17224"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}