{"id":17545,"date":"2026-01-22T06:48:34","date_gmt":"2026-01-22T06:48:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17545"},"modified":"2026-01-22T07:43:27","modified_gmt":"2026-01-22T07:43:27","slug":"xp21-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xp21-microdeletion-syndrome\/","title":{"rendered":"Xp21 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>Xp21\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff08Xp21 Contiguous Gene Deletion Syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>DMD\/GK\/AHC\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u8907\u96d1\u578b\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08Complex Glycerol Kinase Deficiency: CGKD\uff09<\/strong><\/li>\n\n\n\n<li><strong>Xp21\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 \u77ed\u8155\uff08p\uff0921\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>Xp21\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c21\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u308f\u305f\u308bDNA\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\u7b4b\u8089\u3001\u4ee3\u8b1d\u3001\u5185\u5206\u6ccc\u3001\u304a\u3088\u3073\u8133\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u304c\u4e26\u3093\u3067\u914d\u7f6e\u3055\u308c\u3066\u304a\u308a\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u5fdc\u3058\u3066\u8907\u6570\u306e\u75be\u60a3\u304c\u5408\u4f75\u3057\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>\u3053\u306e\u9818\u57df\u3067\u7279\u306b\u91cd\u8981\u306a\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u300d\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DMD\u907a\u4f1d\u5b50 (Dystrophin):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u7b4b\u8089\u306e\u7d30\u80de\u819c\u3092\u652f\u3048\u308b\u300c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a**\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08DMD\uff09**\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\u3092\u62db\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GK\u907a\u4f1d\u5b50 (Glycerol Kinase):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\uff08\u8102\u80aa\u306e\u5206\u89e3\u7523\u7269\uff09\u3092\u4ee3\u8b1d\u3059\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a**\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08GKD\uff09**\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u8840\u4e2d\u3084\u5c3f\u4e2d\u306e\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u5024\u304c\u8457\u3057\u304f\u4e0a\u6607\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NR0B1\u907a\u4f1d\u5b50 (DAX1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u526f\u814e\u3084\u6027\u817a\uff08\u7cbe\u5de3\u30fb\u5375\u5de3\uff09\u306e\u767a\u9054\u3068\u6a5f\u80fd\u3092\u8abf\u7bc0\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a**\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\uff08AHC\uff09**\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u751f\u547d\u306b\u5371\u967a\u3092\u53ca\u307c\u3059\u526f\u814e\u4e0d\u5168\u3084\u4f4e\u8840\u7cd6\u3001\u5c06\u6765\u7684\u306a\u4e0d\u598a\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>IL1RAPL1\u907a\u4f1d\u5b50 \/ OATL1\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u306e\u30b7\u30ca\u30d7\u30b9\u5f62\u6210\u3084\u7db2\u819c\u306e\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u6b20\u5931\u7bc4\u56f2\u304c\u3053\u308c\u3089\u3092\u542b\u3080\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\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u4e2d\u3067\u3082\u7279\u306b\u5c02\u9580\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u90e8\u985e\u306b\u5165\u308a\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\u308b\u305f\u3081\u3001\u7537\u6027\uff08XY\uff09\u3067\u306f1\u672c\u3057\u304b\u306a\u3044X\u67d3\u8272\u4f53\u306eXp21\u9818\u57df\u304c\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u3001\u91cd\u7be4\u306a\u591a\u7cfb\u7d71\u75be\u60a3\u304c\u5fc5\u767a\u3057\u307e\u3059\u3002\u5973\u6027\uff08XX\uff09\u306f\u901a\u5e38\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3067\u3059\u304c\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306e\u504f\u308a\u306b\u3088\u308a\u3001\u8efd\u5ea6\u306e\u7b4b\u529b\u4f4e\u4e0b\uff08\u4fdd\u56e0\u8005\u767a\u75c7\uff09\u3084\u8efd\u5fae\u306a\u4ee3\u8b1d\u7570\u5e38\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>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Xp21\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5358\u4e00\u306e\u75be\u60a3\u3067\u306f\u306a\u304f\u3001\u8907\u6570\u306e\u91cd\u7be4\u306a\u75be\u60a3\u304c\u300c\u30d1\u30c3\u30b1\u30fc\u30b8\u300d\u3068\u3057\u3066\u73fe\u308c\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u308a\u3001\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u7d44\u307f\u5408\u308f\u3055\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\uff08AHC\uff09\u306b\u3088\u308b\u6025\u6027\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u526f\u814e\u30af\u30ea\u30fc\u30bc:<\/strong> \u51fa\u751f\u76f4\u5f8c\u304b\u3089\u4e73\u5150\u671f\u306b\u304b\u3051\u3066\u3001\u91cd\u5ea6\u306e\u5614\u5410\u3001\u8131\u6c34\u3001\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\u3001\u9ad8\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3092\u6765\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u751f\u547d\u306b\u76f4\u7d50\u3059\u308b\u7dca\u6025\u4e8b\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u7cd6:<\/strong> \u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306e\u8abf\u7bc0\u4e0d\u5168\u306b\u3088\u308a\u3001\u610f\u8b58\u969c\u5bb3\u3084\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u4f4e\u8840\u7cd6\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u306e\u8272\u7d20\u6c88\u7740:<\/strong> \u526f\u814e\u76ae\u8cea\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08ACTH\uff09\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u808c\u306e\u8272\u304c\u9ed2\u305a\u3093\u3067\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08DMD\uff09\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u529b\u4f4e\u4e0b:<\/strong> \u5e7c\u5150\u671f\uff083\u301c5\u6b73\u9803\uff09\u304b\u3089\u3001\u968e\u6bb5\u306e\u4e0a\u308a\u4e0b\u308a\u304c\u56f0\u96e3\u306b\u306a\u308b\u3001\u8ee2\u3073\u3084\u3059\u3044\u3001\u8d70\u308b\u306e\u304c\u9045\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767b\u6500\u6027\u8d77\u7acb\uff08\u30b4\u30ef\u30fc\u30ba\u5fb4\u5019\uff09:<\/strong> \u5e8a\u304b\u3089\u7acb\u3061\u4e0a\u304c\u308b\u969b\u306b\u3001\u81ea\u5206\u306e\u624b\u3067\u819d\u3084\u817f\u3092\u3064\u3044\u3066\u9019\u3044\u4e0a\u304c\u308b\u3088\u3046\u306a\u72ec\u7279\u306e\u52d5\u4f5c\u3002<\/li>\n\n\n\n<li><strong>\u3075\u304f\u3089\u306f\u304e\u306e\u4eee\u6027\u80a5\u5927:<\/strong> \u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304c\u8102\u80aa\u3084\u7d50\u5408\u7d44\u7e54\u306b\u7f6e\u304d\u63db\u308f\u308a\u3001\u786c\u304f\u592a\u304f\u898b\u3048\u308b\u73fe\u8c61\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08GKD\uff09\u306b\u3088\u308b\u4ee3\u8b1d\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u8840\u75c7\u30fb\u5c3f\u75c7:<\/strong> \u901a\u5e38\u306f\u7121\u75c7\u72b6\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6fc0\u3057\u3044\u904b\u52d5\u3084\u611f\u67d3\u75c7\u3001\u7a7a\u8179\u6642\u306a\u3069\u306b\u300c\u5614\u5410\u4e0b\u75e2\u75c7\u300d\u306e\u3088\u3046\u306a\u4ee3\u8b1d\u5371\u6a5f\uff08\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306a\u3069\uff09\u3092\u8a98\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u507d\u6027\u9ad8\u30c8\u30ea\u30b0\u30ea\u30bb\u30ea\u30c9\u8840\u75c7:<\/strong> \u901a\u5e38\u306e\u8840\u6db2\u691c\u67fb\u3067\u4e2d\u6027\u8102\u80aa\uff08\u30c8\u30ea\u30b0\u30ea\u30bb\u30ea\u30c9\uff09\u304c\u7570\u5e38\u306b\u9ad8\u304f\u51fa\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u3092\u8aa4\u3063\u3066\u6e2c\u5b9a\u3057\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u77e5\u80fd\u304a\u3088\u3073\u767a\u9054\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> IL1RAPL1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5927\u304d\u306a\u6b20\u5931\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><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306e\u9045\u308c\uff09\u3068\u77e5\u80fd\u767a\u9054\u306e\u4e21\u9762\u3067\u9045\u308c\u304c\u898b\u3089\u308c\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>Xp21\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08X\u9023\u9396\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\u306e\u7d44\u63db\u3048\u30a8\u30e9\u30fc\u3084\u5207\u65ad\u306b\u3088\u3063\u3066\u3001Xp21\u9818\u57df\u306e\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u4e00\u5ea6\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u3067\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: \u7d0470\u301c80%<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u306e\u521d\u671f\u6bb5\u968e\u3067\u5076\u7136\u306b\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6bcd\u89aa\u304b\u3089\u306e\u7d99\u627f: \u7d0420\u301c30%<br>\u7121\u75c7\u72b6\u3001\u3042\u308b\u3044\u306f\u8efd\u75c7\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\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u5bb6\u7cfb\u5185\u306b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3084\u4e73\u5150\u7a81\u7136\u6b7b\u306e\u6b74\u53f2\u304c\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9023\u7d9a\u7684\u907a\u4f1d\u5b50\u6b20\u5931\u306e\u30e1\u30ab\u30cb\u30ba\u30e0:<br>\u30b2\u30ce\u30e0\u4e0a\u306e\u7279\u5b9a\u306e\u9818\u57df\u304c\u300c\u8106\u5f31\u300d\u3067\u3042\u308b\u305f\u3081\u3001DMD\u907a\u4f1d\u5b50\u3092\u8d77\u70b9\u3068\u3057\u3066\u305d\u306e\u5468\u8fba\u9818\u57df\uff08GK\u3084NR0B1\uff09\u307e\u3067\u4e00\u7dd2\u306b\u6b20\u3051\u3084\u3059\u3044\u69cb\u9020\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\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>\u8907\u6570\u306e\u75be\u60a3\u3092\u5408\u4f75\u3057\u3066\u3044\u308b\u3053\u3068\u304b\u3089\u3001\u751f\u5316\u5b66\u7684\u691c\u67fb\u3068\u30b2\u30ce\u30e0\u89e3\u6790\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u30fb\u5c3f\u751f\u5316\u5b66\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff09\u5024:<\/strong> DMD\u3092\u53cd\u6620\u3057\u3001\u8457\u3057\u304f\u9ad8\u5024\uff08\u6570\u5343\u301c\u6570\u4e07\uff09\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96fb\u89e3\u8cea\u30fb\u30b3\u30eb\u30c1\u30be\u30fc\u30eb:<\/strong> AHC\u3092\u53cd\u6620\u3057\u3001\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u3001\u9ad8\u30ab\u30ea\u30a6\u30e0\u3001\u4f4e\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u6e2c\u5b9a:<\/strong> \u5c3f\u4e2d\u3084\u8840\u4e2d\u306e\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u6fc3\u5ea6\u3092\u7279\u6b8a\u691c\u67fb\u3067\u6e2c\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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\u3002Xp21\u9818\u57df\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3001\u3069\u306e\u907a\u4f1d\u5b50\uff08DMD, GK, NR0B1\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>MLPA\u6cd5 \/ NGS\u89e3\u6790:<br>DMD\u907a\u4f1d\u5b50\u5185\u306e\u5fae\u5c0f\u306a\u91cd\u8907\u30fb\u6b20\u5931\u3084\u3001\u7279\u5b9a\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u5909\u7570\u3092\u8abf\u3079\u308b\u969b\u306b\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u5e83\u7bc4\u56f2\u3092\u30ab\u30d0\u30fc\u3059\u308b\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u4fee\u5fa9\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u5408\u4f75\u75be\u60a3\u306b\u5bfe\u3057\u3066\u65e9\u671f\u304b\u3089\u4ecb\u5165\u3059\u308b\u3053\u3068\u3067\u3001\u751f\u547d\u4e88\u5f8c\u3068QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5287\u7684\u306b\u6539\u5584\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5185\u5206\u6ccc\u5b66\u7684\u6cbb\u7642\uff08\u6700\u512a\u5148\u30fb\u7dca\u6025\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u526f\u814e\u76ae\u8cea\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5:<\/strong> \u4e0d\u8db3\u3057\u3066\u3044\u308b\u7cd6\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\uff08\u30d2\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\uff09\u3084\u9271\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\uff08\u30d5\u30eb\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\uff09\u3092\u751f\u6daf\u306b\u308f\u305f\u308a\u670d\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b9\u30c8\u30ec\u30b9\u6642\u306e\u5897\u91cf:<\/strong> \u611f\u67d3\u75c7\u3084\u624b\u8853\u306a\u3069\u306e\u30b9\u30c8\u30ec\u30b9\u6642\u306b\u306f\u3001\u901a\u5e38\u91cf\u306e\u6570\u500d\u3092\u6295\u4e0e\uff08\u30b7\u30c3\u30af\u30eb\u30fc\u30eb\uff09\u3057\u3001\u526f\u814e\u30af\u30ea\u30fc\u30bc\u3092\u4e88\u9632\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u6cbb\u7642:<\/strong> \u7b4b\u529b\u4f4e\u4e0b\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u305f\u3081\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\uff08\u5185\u5206\u6ccc\u6cbb\u7642\u3068\u306e\u8abf\u6574\u304c\u5fc5\u8981\uff09\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong> \u95a2\u7bc0\u306e\u62d8\u7e2e\u3092\u9632\u3050\u305f\u3081\u306e\u30b9\u30c8\u30ec\u30c3\u30c1\u3084\u3001\u88c5\u5177\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u6cbb\u7642:<\/strong> \u6b20\u5931\u306e\u7bc4\u56f2\u3084\u30d1\u30bf\u30fc\u30f3\u306b\u3088\u3063\u3066\u306f\u3001\u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d7\u85ac\u306a\u3069\u306e\u6700\u65b0\u6cbb\u7642\u304c\u9069\u5fdc\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u4ee3\u8b1d\u30fb\u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8840\u7cd6\u306e\u4e88\u9632:<\/strong> \u7a7a\u8179\u6642\u9593\u3092\u9577\u304f\u3057\u306a\u3044\u3088\u3046\u306a\u98df\u4e8b\u6442\u53d6\u306e\u5de5\u592b\u3002<\/li>\n\n\n\n<li><strong>\u7dca\u6025\u6642\u5bfe\u5fdc:<\/strong> \u5614\u5410\u3084\u4e0b\u75e2\u306e\u969b\u306f\u3001\u65e9\u671f\u306b\u533b\u7642\u6a5f\u95a2\u3067\u30d6\u30c9\u30a6\u7cd6\u70b9\u6ef4\u306a\u3069\u3092\u53d7\u3051\u3001\u4ee3\u8b1d\u4e0d\u5168\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u767a\u9054\u30fb\u6559\u80b2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3002<\/li>\n\n\n\n<li>\u7b4b\u529b\u4f4e\u4e0b\u306b\u5408\u308f\u305b\u305f\u30d0\u30ea\u30a2\u30d5\u30ea\u30fc\u74b0\u5883\u306e\u6574\u5099\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> \u4ee5\u524d\u306f\u4e73\u5150\u671f\u306e\u526f\u814e\u30af\u30ea\u30fc\u30bc\u3067\u751f\u547d\u3092\u843d\u3068\u3059\u3053\u3068\u304c\u591a\u304b\u3063\u305f\u3067\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u306e\u78ba\u7acb\u306b\u3088\u308a\u3001\u751f\u547d\u4e88\u5f8c\u306f\u8457\u3057\u304f\u5411\u4e0a\u3057\u307e\u3057\u305f\u3002\u73fe\u5728\u306f\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306b\u4f34\u3046\u5fc3\u4e0d\u5168\u3084\u547c\u5438\u4e0d\u5168\u306e\u7ba1\u7406\u304c\u6210\u4eba\u671f\u4ee5\u964d\u306e\u8ab2\u984c\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\u3092\u4f34\u3046\u305f\u3081\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u8eca\u6905\u5b50\u304c\u5fc5\u8981\u306b\u306a\u308b\u306a\u3069\u3001\u591a\u5927\u306a\u8eab\u4f53\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308a\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>Xp21 microdeletion syndrome\uff08Xp21\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u3042\u308b\u3001\u7b4b\u8089\u3001\u30db\u30eb\u30e2\u30f3\u3001\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u5927\u5207\u306a\u300c\u8907\u6570\u306e\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u300d\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\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u300c\u526f\u814e\u306e\u6a5f\u80fd\u4e0d\u5168\uff08\u30db\u30eb\u30e2\u30f3\u4e0d\u8db3\uff09\u300d\u300c\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u306e\u4ee3\u8b1d\u7570\u5e38\u300d\u3068\u3044\u3063\u305f\u7570\u306a\u308b\u75c5\u6c17\u304c\u3001\u540c\u6642\u306b\u4e00\u4eba\u306e\u304a\u5b50\u69d8\u306b\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u805e\u3044\u3066\u3001\u975e\u5e38\u306b\u91cd\u3044\u5370\u8c61\u3092\u6301\u305f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u7279\u306b\u526f\u814e\u306e\u30db\u30eb\u30e2\u30f3\u4e0d\u8db3\u306b\u3064\u3044\u3066\u306f\u3001\u304a\u85ac\u3067\u9069\u5207\u306b\u88dc\u3046\u3053\u3068\u3067\u3001\u8d64\u3061\u3083\u3093\u306e\u6642\u306e\u547d\u306e\u5371\u967a\u3092\u3057\u3063\u304b\u308a\u3068\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u8089\u306e\u75c5\u6c17\u306b\u3064\u3044\u3066\u3082\u3001\u65b0\u3057\u3044\u304a\u85ac\u3084\u30ea\u30cf\u30d3\u30ea\u306e\u7814\u7a76\u304c\u65e5\u3005\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u5185\u5206\u6ccc\u79d1\u3001\u795e\u7d4c\u5185\u79d1\u3001\u5c0f\u5150\u79d1\u306a\u3069\u306e\u5c02\u9580\u533b\u304c\u30c1\u30fc\u30e0\u3068\u306a\u308a\u3001\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u591a\u89d2\u7684\u306b\u3001\u305d\u3057\u3066\u529b\u5f37\u304f\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\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>Francke, U., et al.<\/strong> (1985). <em>Complex glycerol kinase deficiency with DNA deletion in Xp21.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xp21\u306e\u6b20\u5931\u304c\u8907\u6570\u306e\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u89e3\u660e\u3057\u305f\u521d\u671f\u306e\u6b74\u53f2\u7684\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>McCabe, E. R. B.<\/strong> (1989). <em>Clinical and molecular genetic aspects of glycerol kinase deficiency.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3068\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u306e\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u305f\u91cd\u8981\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Xp21 Contiguous Gene Deletion Syndrome \/ NR0B1-Related Adrenal Hypoplasia Congenital<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u3068Xp21\u6b20\u5931\u306b\u95a2\u3059\u308b\u8a3a\u65ad\u30fb\u7ba1\u7406\u306e\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>Xp21 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>Muscular Dystrophy Association (MDA)<\/strong>: <em>Duchenne Muscular Dystrophy (DMD) and associated chromosome abnormalities<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u5354\u4f1a\u306b\u3088\u308b\u3001\u8907\u96d1\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3092\u4f34\u3046DMD\u306e\u89e3\u8aac\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zhang, Y. H., et al.<\/strong> (2000). <em>Molecular definition of the Xp21 contiguous gene syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xp21\u9818\u57df\u306e\u8a73\u7d30\u306a\u907a\u4f1d\u5b50\u30de\u30c3\u30d7\u3068\u81e8\u5e8a\u76f8\u95a2\u3092\u5b9a\u7fa9\u3057\u305f\u7814\u7a76\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-17545","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\/17545","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\/17545\/revisions"}],"predecessor-version":[{"id":17589,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17545\/revisions\/17589"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17545"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}