{"id":17549,"date":"2026-01-22T06:51:25","date_gmt":"2026-01-22T06:51:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17549"},"modified":"2026-01-22T06:53:10","modified_gmt":"2026-01-22T06:53:10","slug":"xp21-2-microduplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xp21-2-microduplication-syndrome\/","title":{"rendered":"Xp21.2 microduplication 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>Xp21.2\u91cd\u8907\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>DMD\u907a\u4f1d\u5b50\u5185\u91cd\u8907\uff08Intragenic DMD duplication\uff09<\/strong><\/li>\n\n\n\n<li><strong>Xp21.2\u30b3\u30d4\u30fc\u6570\u591a\u578b\uff08CNV\uff09\u95a2\u9023\u75be\u60a3<\/strong><\/li>\n\n\n\n<li><strong>X\u9023\u9396\u77e5\u7684\u969c\u5bb3\uff08XLID\uff09\u4f34\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u95a2\u9023\u578b<\/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\uff0921.2\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>Xp21.2\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c21.2\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u30b2\u30ce\u30e0\u914d\u5217\u304c\u901a\u5e38\u3088\u308a\u3082\u591a\u304f\u5b58\u5728\u3059\u308b\uff08<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\uff09\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u3067\u6700\u3082\u6ce8\u76ee\u3055\u308c\u308b\u306e\u306f\u3001\u30d2\u30c8\u306e\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u6700\u5927\u7d1a\u306e\u30b5\u30a4\u30ba\u3092\u8a87\u308b\u300cDMD\uff08\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\uff09\u907a\u4f1d\u5b50\u300d\u306e\u5b58\u5728\u3067\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>\u91cd\u8907\u306e\u7bc4\u56f2\u306b\u306f\u300cDMD\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u306e\u307f\u304c\u91cd\u8907\u3059\u308b\u5834\u5408\u300d\u3068\u300cDMD\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5468\u8fba\u9818\u57df\u5168\u4f53\u304c\u91cd\u8907\u3059\u308b\u5834\u5408\u300d\u304c\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u3067\u75c5\u614b\u304c\u7570\u306a\u308a\u307e\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\u3001\u885d\u6483\u304b\u3089\u4fdd\u8b77\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u300d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u91cd\u8907\u306b\u3088\u308a\u300c\u30ea\u30fc\u30c7\u30a3\u30f3\u30b0\u30d5\u30ec\u30fc\u30e0\uff08\u907a\u4f1d\u5b50\u306e\u8aad\u307f\u67a0\uff09\u300d\u304c\u305a\u308c\u308b\u3068\u3001\u6b63\u5e38\u306a\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u304c\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u3001<strong>\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\uff08DMD\uff09\u3084\u30d9\u30c3\u30ab\u30fc\u578b\uff08BMD\uff09\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/strong>\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u8aad\u307f\u67a0\u304c\u7dad\u6301\u3055\u308c\u305f\u91cd\u8907\u3067\u3042\u3063\u3066\u3082\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u4f4e\u4e0b\u3092\u62db\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>IL1RAPL1\u907a\u4f1d\u5b50\uff08\u96a3\u63a5\u9818\u57df\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u306e\u30b7\u30ca\u30d7\u30b9\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u3053\u306e\u907a\u4f1d\u5b50\u307e\u3067\u53ca\u3076\u5834\u5408\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084**\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09**\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TAB3\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u7d30\u80de\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u767a\u9054\u9045\u6ede\u3084\u7279\u5b9a\u306e\u5f62\u614b\u7570\u5e38\u3078\u306e\u5bc4\u4e0e\u304c\u7814\u7a76\u3055\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>\u4e0d\u660e\uff08\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u904e\u5c11\u8a3a\u65ad\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001DMD\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306e\u3046\u3061\u3001\u91cd\u8907\u304c\u5360\u3081\u308b\u5272\u5408\u306f\u7d0410\u301c15%\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067\u3001\u96a3\u63a5\u907a\u4f1d\u5b50\u3092\u5dfb\u304d\u8fbc\u3080\u300c\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u5831\u544a\u6570\u306f\u3055\u3089\u306b\u9650\u3089\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\u306eXp21.2\u9818\u57df\u304c\u91cd\u8907\u3059\u308b\u305f\u3081\u3001\u75c7\u72b6\u304c\u9855\u8457\u306b\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\uff08XX\uff09:<\/strong> 2\u672c\u306eX\u67d3\u8272\u4f53\u306e\u3046\u30611\u672c\u304c\u91cd\u8907\u3057\u3066\u3044\u3066\u3082\u3001\u3082\u30461\u672c\u304c\u6b63\u5e38\u3067\u3042\u308b\u305f\u3081\u3001\u591a\u304f\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u304c\u91cd\u8907\u5074\u306b\u504f\u3063\u305f\u5834\u5408\u3001\u5973\u6027\u3067\u3082\u7b4b\u529b\u4f4e\u4e0b\u3084\u77e5\u7684\u969c\u5bb3\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u9855\u6027\u5316\u4fdd\u56e0\u8005\uff09\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>Xp21.2\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u91cd\u8907\u306e\u7bc4\u56f2\u3068DMD\u907a\u4f1d\u5b50\u306e\u8aad\u307f\u67a0\u3078\u306e\u5f71\u97ff\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7b4b\u9aa8\u683c\u7cfb\u306e\u75c7\u72b6\uff08\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u75c5\u614b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b:<\/strong> \u968e\u6bb5\u306e\u4e0a\u308a\u4e0b\u308a\u304c\u56f0\u96e3\u306b\u306a\u308b\u3001\u3088\u304f\u8ee2\u3076\u3001\u3064\u307e\u5148\u6b69\u304d\u3092\u3059\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u5e7c\u5150\u671f\u304b\u3089\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eee\u6027\u80a5\u5927:<\/strong> \u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304c\u7570\u5e38\u306b\u592a\u304f\u898b\u3048\u308b\uff08\u5b9f\u969b\u306b\u306f\u7b4b\u8089\u304c\u8102\u80aa\u3084\u7d44\u7e54\u306b\u7f6e\u304d\u63db\u308f\u3063\u3066\u3044\u308b\u72b6\u614b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u62d8\u7e2e:<\/strong> \u7b4b\u8089\u306e\u77ed\u7e2e\u306b\u4f34\u3044\u3001\u95a2\u7bc0\u304c\u5341\u5206\u306b\u4f38\u3073\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u7b4b\u75c7:<\/strong> \u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u306f\u5fc3\u7b4b\u306b\u3082\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u5fc3\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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\uff08ID\uff09:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u3001\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0a\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306fDMD\u907a\u4f1d\u5b50\u81ea\u4f53\u304c\u8133\u5185\u3067\u3082\u4e00\u90e8\u767a\u73fe\u3057\u3066\u3044\u308b\u3053\u3068\u3084\u3001\u96a3\u63a5\u3059\u308b\u795e\u7d4c\u95a2\u9023\u907a\u4f1d\u5b50\uff08IL1RAPL1\u7b49\uff09\u306e\u91cd\u8907\u304c\u5f71\u97ff\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u6a5f\u80fd\u306e\u9045\u308c\u306b\u5148\u884c\u3057\u3066\u3001\u8a00\u8449\u306e\u8868\u51fa\u3084\u7406\u89e3\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong> \u5168\u822c\u7684\u306a\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\uff08\u9996\u3059\u308f\u308a\u3001\u4e00\u4eba\u6b69\u304d\u7b49\uff09\u306e\u9045\u308c\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u9762\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u7279\u6027:<\/strong> \u8996\u7dda\u3092\u5408\u308f\u305b\u306b\u304f\u3044\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3001\u7279\u5b9a\u306e\u7269\u4e8b\u3078\u306e\u5f37\u3044\u3053\u3060\u308f\u308a\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ADHD\uff08\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff09:<\/strong> \u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3084\u3001\u96c6\u4e2d\u529b\u306e\u6301\u7d9a\u304c\u56f0\u96e3\u306a\u75c7\u72b6\u3092\u4f34\u3046\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\u8eab\u4f53\u5947\u5f62\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5fae\u7d30\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u975e\u7279\u7570\u7684\u306a\u9854\u8c8c:<\/strong> \u5e83\u3044\u984d\u3001\u5e73\u5766\u306a\u9f3b\u6839\u90e8\u3001\u8033\u306e\u4f4d\u7f6e\u306e\u308f\u305a\u304b\u306a\u4f4e\u4f4d\u4ed8\u7740\u3002<\/li>\n\n\n\n<li><strong>\u5074\u5f2f\u75c7:<\/strong> \u7b4b\u529b\u4f4e\u4e0b\u304c\u9032\u3080\u306b\u3064\u308c\u3066\u3001\u810a\u67f1\u304c\u5de6\u53f3\u306b\u66f2\u304c\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>Xp21.2\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u3068\u8aad\u307f\u67a0\u306e\u7570\u5e38\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306eDNA\u914d\u5217\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u3001\u907a\u4f1d\u5b50\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\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>DMD\u907a\u4f1d\u5b50\u5185\u306e\u8aad\u307f\u67a0\u306e\u305a\u308c\uff08Out-of-frame\uff09:<br>DMD\u907a\u4f1d\u5b50\u306e\u69cb\u6210\u5358\u4f4d\uff08\u30a8\u30ad\u30bd\u30f3\uff09\u304c\u91cd\u8907\u3057\u305f\u969b\u3001\u305d\u306e\u7e4b\u304e\u76ee\u3067\u8aad\u307f\u67a0\u304c\u305a\u308c\u308b\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5168\u304f\u4f5c\u3089\u308c\u306a\u3044\u300c\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene dosage effect\uff09:<br>IL1RAPL1\u306a\u3069\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3057\u305f\u5834\u5408\u3001\u901a\u5e38\u3088\u308a\u3082\u591a\u304f\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7523\u751f\u3055\u308c\u307e\u3059\u3002\u8133\u5185\u3067\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7269\u8cea\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\u306e\u69cb\u7bc9\u306b\u4e0d\u5747\u8861\u304c\u751f\u3058\u3001\u77e5\u7684\u969c\u5bb3\u3084\u884c\u52d5\u969c\u5bb3\u3092\u62db\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo duplication\uff09:<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\u6642\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u521d\u671f\u6bb5\u968e\u3067\u5076\u7136\u306b\u5fae\u5c0f\u91cd\u8907\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u304c\u7d043\u5206\u306e1\u3092\u5360\u3081\u307e\u3059\u3002\u6b8b\u308a\u306e\u7d043\u5206\u306e2\u306f\u3001\u6bcd\u89aa\uff08\u4fdd\u56e0\u8005\uff09\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305f\u3082\u306e\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>\u81e8\u5e8a\u7684\u306a\u7b4b\u75c7\u72b6\u3084\u767a\u9054\u306e\u9045\u308c\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u7cbe\u5bc6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>MLPA\uff08Multiplex Ligation-dependent Probe Amplification\uff09\u6cd5:<br>DMD\u907a\u4f1d\u5b50\u5185\u306e\u5fae\u5c0f\u306a\u91cd\u8907\u3092\u691c\u51fa\u3059\u308b\u7b2c\u4e00\u9078\u629e\u306e\u691c\u67fb\u3067\u3059\u3002\u30a8\u30ad\u30bd\u30f3\u5358\u4f4d\u3067\u306e\u5897\u6e1b\u3092\u6b63\u78ba\u306b\u6e2c\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>DMD\u907a\u4f1d\u5b50\u306e\u5916\u5074\u307e\u3067\u53ca\u3076\u5fae\u5c0f\u91cd\u8907\u306e\u7bc4\u56f2\u3092\u7279\u5b9a\u3059\u308b\u306e\u306b\u9069\u3057\u3066\u3044\u307e\u3059\u3002\u96a3\u63a5\u907a\u4f1d\u5b50\u306e\u5dfb\u304d\u8fbc\u307f\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09:<br>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u7b49\u306b\u3088\u308a\u3001\u91cd\u8907\u306e\u5883\u754c\u70b9\u3092\u8a73\u7d30\u306b\u8abf\u3079\u305f\u308a\u3001\u4ed6\u306e\u75be\u60a3\u3068\u306e\u5dee\u5225\u5316\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8840\u6db2\u691c\u67fb\uff08CK\u5024\uff09:<br>\u7b4b\u8089\u306e\u7834\u58ca\u3092\u53cd\u6620\u3059\u308b\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u5024\u3092\u6e2c\u5b9a\u3057\u307e\u3059\u3002\u6b63\u5e38\u5024\uff08\u6570\u767e\uff09\u306b\u5bfe\u3057\u3001\u6570\u5343\u304b\u3089\u6570\u4e07\u3068\u3044\u3046\u8457\u3057\u3044\u9ad8\u5024\u3092\u793a\u3059\u3053\u3068\u304c\u3001\u8a3a\u65ad\u306e\u5f37\u3044\u6839\u62e0\u306b\u306a\u308a\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\u306a\u907a\u4f1d\u5b50\u4fee\u5fa9\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u4ecb\u5165\u3067QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u306e\u7dad\u6301\u3068\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7b4b\u75c7\u72b6\u3078\u306e\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong> \u95a2\u7bc0\u304c\u56fa\u307e\u308b\u306e\u3092\u9632\u3050\u30b9\u30c8\u30ec\u30c3\u30c1\u3084\u3001\u6b69\u884c\u3092\u52a9\u3051\u308b\u88c5\u5177\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\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\u884c\u308f\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u526f\u4f5c\u7528\uff08\u4f53\u91cd\u5897\u52a0\u3084\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\uff09\u3078\u306e\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u6a5f\u80fd\u7ba1\u7406:<\/strong> \u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066ACE\u963b\u5bb3\u85ac\u306a\u3069\u306e\u5fc3\u4e0d\u5168\u4e88\u9632\u85ac\u3092\u670d\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7642\u80b2\u30fb\u6559\u80b2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084\u81ea\u9589\u7684\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u3001\u8996\u899a\u7684\u306a\u624b\u304c\u304b\u308a\u306e\u6d3b\u7528\u3084\u500b\u5225\u306e\u5b66\u7fd2\u8a08\u753b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u5668\u7ba1\u7406:<\/strong> \u7b4b\u529b\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u547c\u5438\u3059\u308b\u529b\u3082\u5f31\u304f\u306a\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u80ba\u6a5f\u80fd\u691c\u67fb\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u547c\u5438\u88dc\u52a9\uff08NPPV\u7b49\uff09\u306e\u691c\u8a0e\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u533b\u5b66\u7684\u30b5\u30dd\u30fc\u30c8:<\/strong> ADHD\u3084ASD\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u884c\u52d5\u7642\u6cd5\u3084\u85ac\u7269\u7642\u6cd5\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> \u5fc3\u81d3\u3084\u547c\u5438\u5668\u306e\u7ba1\u7406\u304c\u5411\u4e0a\u3057\u305f\u73fe\u5728\u3067\u306f\u3001\u6210\u4eba\u671f\u3092\u5143\u6c17\u306b\u904e\u3054\u3059\u65b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u306e\u4ecb\u5165\u304c\u5bff\u547d\u3068QOL\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u91cd\u8907\u306e\u30d1\u30bf\u30fc\u30f3\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u7b4b\u529b\u4f4e\u4e0b\u304c\u9032\u3080\u306b\u3064\u308c\u3066\u8eca\u6905\u5b50\u304c\u5fc5\u8981\u306b\u306a\u308b\u6642\u671f\u304c\u8a2a\u308c\u307e\u3059\u3002\u30d0\u30ea\u30a2\u30d5\u30ea\u30fc\u74b0\u5883\u306e\u6574\u5099\u3084\u793e\u4f1a\u8cc7\u6e90\u306e\u6d3b\u7528\u304c\u91cd\u8981\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>Xp21.2 microduplication syndrome\uff08Xp21.2\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cDMD\uff08\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\uff09\u300d\u3068\u3044\u3046\u7b4b\u8089\u3092\u5b88\u308b\u5927\u5207\u306a\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u5468\u8fba\u304c\u901a\u5e38\u3088\u308a\u591a\u304f\u5b58\u5728\u3059\u308b\uff08\u5fae\u5c0f\u91cd\u8907\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8ee2\u3073\u3084\u3059\u3044\u300d\u300c\u968e\u6bb5\u304c\u82e6\u624b\u300d\u3068\u3044\u3063\u305f\u7b4b\u8089\u306e\u75c7\u72b6\u3060\u3051\u3067\u306a\u304f\u3001\u8a00\u8449\u306e\u80b2\u3061\u3084\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u8a2d\u8a08\u56f3\u304c\u591a\u3059\u304e\u308b\u305f\u3081\u306b\u3001\u7b4b\u8089\u3084\u8133\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3057\u3066\u3057\u307e\u3063\u305f\u308a\u3059\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u307e\u3067\u306b\u306f\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001MLPA\u6cd5\u306a\u3069\u306e\u7cbe\u5bc6\u306a\u691c\u67fb\u3067\u539f\u56e0\u3092\u7a81\u304d\u6b62\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u304a\u85ac\u3084\u30ea\u30cf\u30d3\u30ea\u3001\u305d\u3057\u3066\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u6559\u80b2\u652f\u63f4\u3092\u65e9\u671f\u304b\u3089\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u7b4b\u8089\u306e\u6a5f\u80fd\u3092\u5b88\u308a\u3001\u304a\u5b50\u69d8\u306e\u53ef\u80fd\u6027\u3092\u5e83\u3052\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u3084\u7642\u80b2\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u6b69\u3093\u3067\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>Angelini, C., et al.<\/strong> (2014). <em>Clinical spectrum of dystrophinopathies.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u591a\u69d8\u306a\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Viggiano, E., et al.<\/strong> (2016). <em>Xp21.2 microduplication: A detailed clinical and molecular characterization.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xp21.2\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306b\u7279\u5316\u3057\u305f\u81e8\u5e8a\u75c7\u4f8b\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tuffery-Giraud, S., et al.<\/strong> (2009). <em>Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u91cd\u8907\u3092\u542b\u3080\u5927\u898f\u6a21\u306aDMD\u5909\u7570\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Dystrophinopathies<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08DMD\u95a2\u9023\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\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>Xp21.2 microduplications: 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>Flanigan, K. M.<\/strong> (2014). <em>The muscular dystrophies.<\/em> Seminars in Neurology.\n<ul class=\"wp-block-list\">\n<li>\uff08\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u5168\u822c\u306e\u8a3a\u65ad\u3068\u6700\u65b0\u6cbb\u7642\u306b\u95a2\u3059\u308b\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-17549","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\/17549","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\/17549\/revisions"}],"predecessor-version":[{"id":17553,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17549\/revisions\/17553"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17549"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}