{"id":17558,"date":"2026-01-22T06:59:25","date_gmt":"2026-01-22T06:59:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17558"},"modified":"2026-01-22T06:59:25","modified_gmt":"2026-01-22T06:59:25","slug":"xq21-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xq21-microdeletion-syndrome\/","title":{"rendered":"Xq21 microdeletion 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>Xq21\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff08Xq21 Contiguous Gene Deletion Syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7121\u8108\u7d61\u819c\u75c7\u30fb\u8033\u786c\u5316\u75c7\u30fb\u77e5\u7684\u969c\u5bb3\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>Xq21.1-q21.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>CHM\/POU3F4\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/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>X\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>Xq21\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u9577\u8155\u4e2d\u592e\u4ed8\u8fd1\u306b\u4f4d\u7f6e\u3059\u308b\u300c21\u300d\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u308f\u305f\u308b\u30b2\u30ce\u30e0\u914d\u5217\u304c\u5931\u308f\u308c\u308b\uff08<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\uff09\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u7db2\u819c\u306e\u6a5f\u80fd\u3001\u5185\u8033\u306e\u5f62\u6210\u3001\u304a\u3088\u3073\u8133\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u304c\u96a3\u63a5\u3057\u3066\u914d\u7f6e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u81e8\u5e8a\u75c7\u72b6\u306e\u6838\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CHM\u907a\u4f1d\u5b50 (Choroideremia):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u7d30\u80de\u5185\u306e\u7269\u8cea\u8f38\u9001\u3092\u8abf\u7bc0\u3059\u308bRab\u30a8\u30b9\u30b3\u30fc\u30c8\u30bf\u30f3\u30d1\u30af\u8cea-1\uff08REP-1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u6b20\u5931\u306b\u3088\u308a<strong>\u7121\u8108\u7d61\u819c\u75c7<\/strong>\uff08\u9032\u884c\u6027\u306e\u8996\u529b\u55aa\u5931\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>POU3F4\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u5185\u8033\u306e\u767a\u751f\u3092\u5236\u5fa1\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a**X\u9023\u9396\u6027\u6df7\u5408\u6027\u96e3\u8074\uff08DFNX2\uff09**\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u5185\u8033\u9053\u3068\u5185\u8033\u306e\u9593\u306e\u7570\u5e38\u306a\u4ea4\u901a\uff08gusher phenomenon\uff09\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>RSM1 \/ ZNF711\u907a\u4f1d\u5b50\u7fa4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u306e\u767a\u9054\u304a\u3088\u3073\u795e\u7d4c\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u3053\u308c\u3089\u306e\u9818\u57df\u3092\u542b\u3080\u5927\u304d\u306a\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u3001<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084<strong>\u767a\u9054\u9045\u6ede<\/strong>\u304c\u9855\u8457\u306b\u306a\u308a\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<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u6b63\u78ba\u306a\u7d71\u8a08\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5168\u4e16\u754c\u3067\u3082\u5831\u544a\u4f8b\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u305f\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7121\u8108\u7d61\u819c\u75c7\u3068\u306e\u95a2\u9023:<\/strong> \u5358\u72ec\u306e\u7121\u8108\u7d61\u819c\u75c7\uff08CHM\u907a\u4f1d\u5b50\u306e\u307f\u306e\u5909\u7570\uff09\u306f5\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3067\u3059\u304c\u3001\u5468\u56f2\u306e\u907a\u4f1d\u5b50\u307e\u3067\u5dfb\u304d\u8fbc\u3080\u300cXq21\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u305d\u306e\u4e2d\u3067\u3082\u6570\u30d1\u30fc\u30bb\u30f3\u30c8\u4ee5\u4e0b\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\u306e\u5f71\u97ff:<\/strong> X\u9023\u9396\uff08X-linked\uff09\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u6027\uff08XY\uff09:<\/strong> 1\u672c\u3057\u304b\u306a\u3044X\u67d3\u8272\u4f53\u306eXq21\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u305f\u3081\u3001\u91cd\u7be4\u306a\u591a\u7cfb\u7d71\u75be\u60a3\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\uff08XX\uff09:<\/strong> \u901a\u5e38\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u304c\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306e\u504f\u308a\u306b\u3088\u308a\u3001\u8efd\u5ea6\u306e\u7db2\u819c\u5909\u6027\u3084\u8074\u899a\u4f4e\u4e0b\u3092\u5448\u3059\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>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Xq21\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u8996\u899a\u3001\u8074\u899a\u3001\u77e5\u80fd\u306e3\u3064\u306e\u4e3b\u8981\u306a\u9818\u57df\u306b\u304a\u3044\u3066\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u300d\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u7d44\u307f\u5408\u308f\u305b\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8996\u899a\u969c\u5bb3\uff08\u7121\u8108\u7d61\u819c\u75c7\uff1aCHM\uff09<\/strong><\/p>\n\n\n\n<p>\u7db2\u819c\u3068\u3001\u305d\u306e\u4e0b\u306b\u3042\u308b\u8108\u7d61\u819c\uff08\u8840\u7ba1\u306b\u5bcc\u3080\u5c64\uff09\u304c\u5f90\u3005\u306b\u840e\u7e2e\u3057\u3066\u3044\u304f\u9032\u884c\u6027\u306e\u773c\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591c\u76f2\uff08\u3084\u3082\u3046\uff09:<\/strong> \u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u3001\u6697\u3044\u5834\u6240\u3067\u898b\u3048\u306b\u304f\u3044\u3068\u3044\u3046\u75c7\u72b6\u304b\u3089\u59cb\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u91ce\u72ed\u7a84:<\/strong> \u5468\u8fba\u90e8\u304b\u3089\u8996\u91ce\u304c\u6b20\u3051\u3066\u3044\u304d\u3001\u6700\u7d42\u7684\u306b\u300c\u30c8\u30f3\u30cd\u30eb\u8996\uff08\u4e2d\u5fc3\u90e8\u3057\u304b\u898b\u3048\u306a\u3044\uff09\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u55aa\u5931:<\/strong> 40\u4ee3\u301c50\u4ee3\u306b\u304b\u3051\u3066\u3001\u4e2d\u5fc3\u8996\u529b\u3082\u5931\u308f\u308c\u3001\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8074\u899a\u969c\u5bb3\uff08X\u9023\u9396\u6027\u6df7\u5408\u6027\u96e3\u8074\uff09<\/strong><\/p>\n\n\n\n<p>POU3F4\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u3001\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u96e3\u8074\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6df7\u5408\u6027\u96e3\u8074:<\/strong> \u97f3\u3092\u4f1d\u3048\u308b\u300c\u4f1d\u97f3\u7cfb\u300d\u3068\u3001\u97f3\u3092\u611f\u3058\u308b\u300c\u611f\u97f3\u7cfb\u300d\u306e\u4e21\u65b9\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u96e3\u8074\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u8033\u9053\uff08IAC\uff09\u306e\u62e1\u5927:<\/strong> \u753b\u50cf\u691c\u67fb\uff08CT\/MRI\uff09\u3067\u3001\u5185\u8033\u9053\u3068\u5185\u8033\u306e\u9593\u306b\u7570\u5e38\u306a\u4ea4\u901a\uff08\u3042\u306a\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8033\u306e\u624b\u8853\u306e\u969b\u306b\u9ac4\u6db2\u304c\u5674\u304d\u51fa\u3059\u300c\u30b9\u30bf\u30fc\u30da\u30b9\u30fb\u30ac\u30c3\u30b7\u30e3\u30fc\uff08\u30a2\u30d6\u30df\u9aa8\u5674\u51fa\uff09\u300d\u3068\u3044\u3046\u73fe\u8c61\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u8a00\u8449\u306e\u7372\u5f97\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u767a\u9054\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u8133\u306e\u5bb9\u7a4d\u304c\u308f\u305a\u304b\u306b\u5c0f\u3055\u304f\u3001\u982d\u56f2\u304c\u6a19\u6e96\u3092\u4e0b\u56de\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u30fb\u9854\u8c8c\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u5287\u7684\u306a\u5947\u5f62\u306f\u5c11\u306a\u3044\u3082\u306e\u306e\u3001\u5fae\u7d30\u306a\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>\u9854\u8c8c:<\/strong> \u5e83\u3044\u984d\u3001\u5e73\u5766\u306a\u9f3b\u6839\u90e8\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u308f\u305a\u304b\u306b\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u306a\u3069\u306e\u975e\u7279\u7570\u7684\u306a\u7279\u5fb4\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u306e\u9045\u308c:<\/strong> \u9aa8\u5e74\u9f62\u306e\u9045\u308c\u3084\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\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>Xq21\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306eDNA\u914d\u5217\u304c\u7269\u7406\u7684\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09:<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\u904e\u7a0b\u3067\u5076\u7136\u306b\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3002<\/li>\n\n\n\n<li>\u6bcd\u89aa\u304b\u3089\u306e\u7d99\u627f:<br>\u7121\u75c7\u72b6\u306e\u6bcd\u89aa\uff08\u4fdd\u56e0\u8005\uff09\u304b\u3089\u3001\u6b20\u5931\u3057\u305fX\u67d3\u8272\u4f53\u304c\u606f\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u3002\u3053\u306e\u5834\u5408\u3001\u6bcd\u65b9\u306e\u53d4\u7236\u306a\u3069\u306b\u8996\u899a\u30fb\u8074\u899a\u969c\u5bb3\u8005\u304c\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u5747\u8861\u8ee2\u5ea7:<br>\u89aa\u304c\u6301\u3063\u3066\u3044\u308b\u67d3\u8272\u4f53\u306e\u8ee2\u5ea7\uff08\u5165\u308c\u66ff\u308f\u308a\uff09\u304c\u4e0d\u5747\u8861\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u3067\u3001Xq21\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u30b1\u30fc\u30b9\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u8996\u899a\u3001\u8074\u899a\u3001\u767a\u9054\u306e3\u3064\u306e\u89b3\u70b9\u304b\u3089\u306e\u8a55\u4fa1\u3068\u3001\u78ba\u5b9a\u306e\u305f\u3081\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002Xq21\u9818\u57df\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3001\u3069\u306e\u907a\u4f1d\u5b50\uff08CHM, POU3F4\u7b49\uff09\u3092\u5dfb\u304d\u8fbc\u3093\u3067\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u7684\u691c\u67fb:<br>\u773c\u5e95\u691c\u67fb\u3001\u81ea\u767a\u86cd\u5149\u691c\u67fb\u3001\u304a\u3088\u3073\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u306b\u3088\u308a\u3001\u7db2\u819c\u306e\u5909\u6027\u72b6\u614b\u3092\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8074\u529b\u691c\u67fb\u304a\u3088\u3073CT\/MRI:<br>\u96e3\u8074\u306e\u7a0b\u5ea6\u3092\u78ba\u8a8d\u3057\u3001\u5074\u982d\u9aa8CT\u3067\u5185\u8033\u9053\u306e\u62e1\u5927\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u624b\u8853\u306e\u5b89\u5168\u6027\u3092\u5224\u65ad\u3059\u308b\u4e0a\u3067\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001Xq21\u9818\u57df\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306b\u300c\u6b20\u5931\u3057\u305f\u907a\u4f1d\u5b50\u3092\u623b\u3059\u300d\u6cbb\u7642\u6cd5\u306f\u73fe\u5728\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306f\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8996\u899a\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8996\u529b\u30b1\u30a2\uff08\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2\uff09:<\/strong> \u62e1\u5927\u93e1\u3084\u906e\u5149\u773c\u93e1\u306e\u6d3b\u7528\u3001\u70b9\u5b57\u306e\u7fd2\u5f97\u3001\u8996\u899a\u652f\u63f4\u30c7\u30d0\u30a4\u30b9\u306e\u5c0e\u5165\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76:<\/strong> \u73fe\u5728\u3001\u5358\u72ec\u306e\u7121\u8108\u7d61\u819c\u75c7\u306b\u5bfe\u3057\u3066\u306f\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u6cbb\u9a13\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u5c06\u6765\u7684\u306b\u306f\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306b\u3082\u5fdc\u7528\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8074\u899a\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88dc\u8074\u5668\u306e\u6d3b\u7528:<\/strong> \u4f1d\u97f3\u96e3\u8074\u6210\u5206\u304c\u3042\u308b\u305f\u3081\u3001\u9069\u5207\u306a\u30d5\u30a3\u30c3\u30c6\u30a3\u30f3\u30b0\u306b\u3088\u308b\u88dc\u8074\u5668\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u5de5\u5185\u8033\u306e\u691c\u8a0e:<\/strong> \u91cd\u5ea6\u306e\u96e3\u8074\u306b\u5bfe\u3057\u3066\u691c\u8a0e\u3055\u308c\u307e\u3059\u304c\u3001\u5185\u8033\u306e\u69cb\u9020\u7570\u5e38\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u8853\u306b\u306f\u5c02\u9580\u7684\u306a\u6280\u8853\u3068\u6e96\u5099\u304c\u5fc5\u8981\u3067\u3059\uff08\u30b9\u30bf\u30fc\u30da\u30b9\u30fb\u30ac\u30c3\u30b7\u30e3\u30fc\u3078\u306e\u5bfe\u7b56\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u6559\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u8996\u899a\u969c\u5bb3\u3068\u96e3\u8074\u3092\u4f75\u305b\u6301\u3064\uff08\u76f2\u308d\u3046\u72b6\u614b\u306b\u8fd1\u3044\uff09\u5834\u5408\u3001\u7279\u6b8a\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff08\u89e6\u624b\u8a71\u3001\u30b5\u30a4\u30f3\u3001\u89e6\u899a\u652f\u63f4\uff09\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u304a\u3088\u3073\u611f\u899a\u969c\u5bb3\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\u306b\u57fa\u3065\u304d\u6559\u80b2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u8996\u899a\u3068\u8074\u899a\u306e\u4e21\u65b9\u304c\u9032\u884c\u6027\u306b\u4f4e\u4e0b\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u74b0\u5883\u8abf\u6574\u3068\u3001\u5c06\u6765\u3092\u898b\u636e\u3048\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u78ba\u4fdd\u304cQOL\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u611f\u899a\u969c\u5bb3\u3068\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u6210\u4eba\u5f8c\u306f\u624b\u539a\u3044\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\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>Xq21 microdeletion syndrome\uff08Xq21\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u3042\u308b\u300c\u76ee\uff08\u8996\u899a\uff09\u300d\u300c\u8033\uff08\u8074\u899a\uff09\u300d\u300c\u8133\uff08\u77e5\u80fd\uff09\u300d\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u5927\u5207\u306a\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u304c\u3001\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u3066\u3057\u307e\u3046\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u591c\u306b\u306a\u308b\u3068\u898b\u3048\u306b\u304f\u3044\u300d\u300c\u97f3\u304c\u805e\u3053\u3048\u306b\u304f\u3044\u300d\u300c\u8a00\u8449\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3063\u305f\u3001\u7570\u306a\u308b\u611f\u899a\u3084\u6a5f\u80fd\u306e\u60a9\u307f\u304c\u4e00\u5ea6\u306b\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u7279\u306b\u5185\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684\u306a\u305f\u3081\u3001\u8033\u306e\u624b\u8853\u3092\u53d7\u3051\u308b\u969b\u306b\u306f\u7279\u5225\u306a\u6ce8\u610f\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u76ee\u3068\u8033\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u304a\u5b50\u69d8\u306b\u5408\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u65b9\u6cd5\uff08\u7d75\u30ab\u30fc\u30c9\u3084\u89e6\u899a\u652f\u63f4\u306a\u3069\uff09\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u3067\u3001\u8c4a\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u305f\u3081\u306e\u57fa\u76e4\u3092\u4f5c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u773c\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u7642\u80b2\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3068\u306a\u308a\u3001\u304a\u5b50\u69d8\u306e\u6b69\u5e45\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u3001\u9577\u304f\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\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Merry, D. E., et al.<\/strong> (1992). <em>Choroideremia and mixed deafness with stapes fixation associated with a submicroscopic deletion at Xq21.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08Xq21\u306e\u6b20\u5931\u304c\u7121\u8108\u7d61\u819c\u75c7\u3068\u96e3\u8074\u3092\u540c\u6642\u306b\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u521d\u3081\u3066\u660e\u3089\u304b\u306b\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bach, I., et al.<\/strong> (1992). <em>Microdeletions in patients with X-linked choroideremia, deafness, and mental retardation.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xq21\u9818\u57df\u306e\u6b20\u5931\u7bc4\u56f2\u3068\u75c7\u72b6\u306e\u76f8\u95a2\u3092\u5206\u6790\u3057\u305f\u521d\u671f\u306e\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>de Kok, Y. J., et al.<\/strong> (1995). <em>Association between a POU domain gene and X-linked deafness (DFN3).<\/em> Science.\n<ul class=\"wp-block-list\">\n<li>\uff08POU3F4\u907a\u4f1d\u5b50\u304cX\u9023\u9396\u6027\u96e3\u8074\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Choroideremia<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u7121\u8108\u7d61\u819c\u75c7\u306e\u8a3a\u65ad\u3068\u7ba1\u7406\u306b\u95a2\u3059\u308b\u4e16\u754c\u7684\u6a19\u6e96\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Xq21 microdeletions: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u304b\u3064\u6e29\u304b\u3044\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Van Esch, H.<\/strong> (2012). <em>The molecular genetics of X-linked intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08X\u9023\u9396\u77e5\u7684\u969c\u5bb3\u306b\u304a\u3051\u308bXq21\u306e\u4f4d\u7f6e\u3065\u3051\u3092\u8ad6\u3058\u305f\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/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-17558","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\/17558","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17558\/revisions"}],"predecessor-version":[{"id":17561,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17558\/revisions\/17561"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17558"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}