{"id":17571,"date":"2026-01-22T07:10:35","date_gmt":"2026-01-22T07:10:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17571"},"modified":"2026-01-22T07:10:35","modified_gmt":"2026-01-22T07:10:35","slug":"xq27-3-q28-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xq27-3-q28-duplication-syndrome\/","title":{"rendered":"Xq27.3-q28 duplication 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>Xq27.3-q28\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\uff08Xq27.3-q28 microduplication syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>MECP2\u91cd\u8907\u75c7\u5019\u7fa4\uff08MECP2 duplication syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u9818\u57df\u306e\u91cd\u8907\u306b\u304a\u3044\u3066\u3001Xq28\u306b\u4f4d\u7f6e\u3059\u308bMECP2\u907a\u4f1d\u5b50\u306e\u904e\u5270\u304c\u4e3b\u75c7\u72b6\u3092\u6c7a\u5b9a\u3065\u3051\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u306f\u3053\u306e\u540d\u79f0\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lubs\u578bX\u9023\u9396\u77e5\u7684\u969c\u5bb3\u75c7\u5019\u7fa4\uff08Lubs X-linked intellectual disability syndrome\uff09<\/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\uff0927.3\u9818\u57df\u304b\u308928\u9818\u57df\u306b\u304b\u3051\u3066\u306e\u5fae\u5c0f\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>Xq27.3-q28\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u9577\u8155\u672b\u7aef\u4ed8\u8fd1\u306b\u3042\u308b\u300cq27.3\u300d\u304b\u3089\u300cq28\u300d\u3068\u3044\u3046\u5e83\u7bc4\u306a\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u4e00\u90e8\u306e\u9818\u57df\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\u306f\u300c\u907a\u4f1d\u5b50\u306e\u5b9d\u5eab\u300d\u3068\u3082\u547c\u3070\u308c\u3001\u8133\u3084\u8eab\u4f53\u306e\u767a\u9054\u306b\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\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>\u91cd\u8907\u3059\u308b\u7bc4\u56f2\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u81e8\u5e8a\u75c7\u72b6\u306e\u6838\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MECP2\u907a\u4f1d\u5b50 (Xq28):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u30e1\u30c1\u30eb\u5316\u3055\u308c\u305fDNA\u306b\u7d50\u5408\u3057\u3001\u4ed6\u306e\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30f3\u30fb\u30aa\u30d5\u3059\u308b\u300c\u30de\u30b9\u30bf\u30fc\u30ec\u30ae\u30e5\u30ec\u30fc\u30bf\u30fc\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u8133\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u304c\u3001\u5c11\u306a\u3059\u304e\u308b\u3068\u300c\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u300d\u3092\u3001**\u591a\u3059\u304e\u308b\u3068\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u5fc3\u7684\u306a\u75c5\u614b\uff08\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u904b\u52d5\u969c\u5bb3\u3001\u611f\u67d3\u75c7\u3078\u306e\u8106\u5f31\u6027\uff09**\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FMR1\u907a\u4f1d\u5b50 (Xq27.3):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u30b7\u30ca\u30d7\u30b9\u306e\u53ef\u5851\u6027\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u300c\u8106\u5f31X\u75c7\u5019\u7fa4\u300d\u306e\u539f\u56e0\u3068\u3057\u3066\u6709\u540d\u3067\u3059\u304c\u3001\u91cd\u8907\uff08\u904e\u5270\uff09\u3082\u307e\u305f\u77e5\u7684\u969c\u5bb3\u3084\u884c\u52d5\u969c\u5bb3\u306b\u5bc4\u4e0e\u3059\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SLC6A8\u907a\u4f1d\u5b50 (Xq28):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u8133\u5185\u3078\u30af\u30ec\u30a2\u30c1\u30f3\u3092\u904b\u3076\u8f38\u9001\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u91cd\u8907\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u30af\u30ec\u30a2\u30c1\u30f3\u4ee3\u8b1d\u306e\u4e0d\u5747\u8861\u3092\u62db\u304d\u3001\u795e\u7d4c\u75c7\u72b6\u3092\u4fee\u98fe\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\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>\u7537\u6027\u306b\u304a\u3044\u3066 \u7d04100,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u7537\u6027\u306e\u300cX\u9023\u9396\u77e5\u7684\u969c\u5bb3\uff08XLID\uff09\u300d\u306e\u539f\u56e0\u3068\u3057\u3066\u306f\u5168\u4f53\u306e\u7d041%\u3092\u5360\u3081\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u8a3a\u65ad\u6280\u8853\u306e\u5411\u4e0a\u306b\u3088\u308a\u5831\u544a\u6570\u304c\u5897\u3048\u3066\u3044\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> X\u67d3\u8272\u4f53\u304c1\u672c\u3057\u304b\u306a\u3044\u305f\u3081\u3001\u91cd\u8907\u306e\u5f71\u97ff\u304c\u76f4\u63a5\u304b\u3064\u91cd\u7be4\u306b\u73fe\u308c\u307e\u3059\u3002\u307b\u307c100%\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\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\u901a\u5e38\u306f\u300cX\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u300d\u306b\u3088\u308a\u3001\u91cd\u8907\u3057\u305f\u65b9\u306eX\u67d3\u8272\u4f53\u304c\u7720\u3089\u3055\u308c\u308b\u305f\u3081\u3001\u591a\u304f\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4e0d\u6d3b\u6027\u5316\u304c\u504f\u3063\u305f\u5834\u5408\u306b\u306f\u3001\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u7cbe\u795e\u533b\u5b66\u7684\u75c7\u72b6\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>Xq27.3-q28\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u7279\u306bMECP2\u91cd\u8907\u3092\u542b\u3080\u5834\u5408\uff09\u306e\u75c7\u72b6\u306f\u3001\u6642\u9593\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u91cd\u7be4\u306a\u6240\u898b\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd\uff08\u7537\u6027\u75c7\u4f8b\u306e\u4e3b\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3:<\/strong> \u307b\u307c\u3059\u3079\u3066\u306e\u7537\u6027\u60a3\u8005\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u6b20\u5982:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u6709\u610f\u306a\u8a00\u8a9e\uff08\u8a00\u8449\uff09\u306e\u7372\u5f97\u304c\u56f0\u96e3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u304c\u9045\u308c\u3001\u6b69\u884c\u3092\u7372\u5f97\u3067\u304d\u308b\u306e\u306f\u7d04\u534a\u6570\u3067\u3059\u304c\u3001\u305d\u308c\u3082\u6210\u4eba\u671f\u307e\u3067\u306b\u5931\u308f\u308c\u308b\uff08\u9000\u884c\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38:<\/strong> \u4e73\u5150\u671f\u306f\u7b4b\u8089\u304c\u67d4\u3089\u304b\u3044\uff08\u4f4e\u7dca\u5f35\uff09\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u624b\u8db3\u304c\u7a81\u3063\u5f35\u308b\u300c\u75d9\u6027\uff08\u3051\u3044\u305b\u3044\uff09\u300d\u304c\u5f37\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u5287\u7684\u306a\u5947\u5f62\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5171\u901a\u3057\u305f\u5fae\u7d30\u306a\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u3044\u9f3b\u6839\u90e8\u3068\u77ed\u3044\u9f3b<\/strong><\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2\uff08\u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u3044\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u305f\u5927\u304d\u306a\u53e3<\/strong><\/li>\n\n\n\n<li><strong>\u4e2d\u9854\u9762\u306e\u5e73\u5766\u5316<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u91cd\u7be4\u306a\u5408\u4f75\u75c7\uff08\u751f\u547d\u4e88\u5f8c\u306b\u76f4\u7d50\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53cd\u5fa9\u6027\u547c\u5438\u5668\u611f\u67d3\u75c7:<\/strong> \u60a3\u8005\u306e\u7d0475%\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u91cd\u5ea6\u306e\u80ba\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3001\u3053\u308c\u304c\u6210\u4eba\u671f\u306b\u304a\u3051\u308b\u4e3b\u8981\u306a\u6b7b\u4ea1\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u306e\u8efd\u5ea6\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093:<\/strong> \u5e7c\u5c11\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u767a\u75c7\u3057\u3001\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\uff08\u96e3\u6cbb\u6027\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3068\u56a5\u4e0b\u969c\u5bb3:<\/strong> \u98df\u3079\u7269\u306e\u98f2\u307f\u8fbc\u307f\u304c\u4e0a\u624b\u304f\u3044\u304b\u305a\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \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\u72ec\u7279\u306e\u624b\u306e\u52d5\u304d\uff08\u30cf\u30f3\u30c9\u30b9\u30c6\u30ec\u30aa\u30c6\u30a3\u30d4\u30fc\uff1a\u624b\u63c9\u307f\u52d5\u4f5c\u306a\u3069\uff09\u3001\u793e\u4f1a\u7684\u76f8\u4e92\u53cd\u5fdc\u306e\u56f0\u96e3\u3055\u3002<\/li>\n\n\n\n<li><strong>\u75db\u307f\u306b\u920d\u611f:<\/strong> \u75db\u307f\u306b\u5bfe\u3057\u3066\u53cd\u5fdc\u304c\u920d\u3044\uff08\u75db\u899a\u95be\u5024\u304c\u9ad8\u3044\uff09\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\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>Xq27.3-q28\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u306b\u3088\u308b\u904e\u5270\u767a\u73fe\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001\u8133\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u306b\u5fc5\u8981\u306a\u300cMECP2\u300d\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u5b58\u5728\u3057\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u308a\u3059\u304e\u3089\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>\u6bcd\u89aa\u304b\u3089\u306e\u7d99\u627f (\u7d0490%):<br>\u591a\u304f\u306e\u5834\u5408\u3001\u7121\u75c7\u72b6\u306e\u6bcd\u89aa\uff08\u4fdd\u56e0\u8005\uff09\u304b\u3089\u3001\u91cd\u8907\u3057\u305fX\u67d3\u8272\u4f53\u304c\u606f\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u606f\u5b50\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570 (De novo duplication):<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\u6642\u306b\u5076\u7136\u306b\u5fae\u5c0f\u91cd\u8907\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3002<\/li>\n\n\n\n<li>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u904e\u5270\u767a\u73fe:<br>MECP2\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u306a\u308b\u3068\u3001\u8133\u5185\u306e\u795e\u7d4c\u7d30\u80de\u306e\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u304c\u6291\u5236\u3055\u308c\u3001\u60c5\u5831\u4f1d\u9054\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u307e\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\u7279\u5fb4\uff08\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u80ba\u708e\u306e\u7e70\u308a\u8fd4\u3057\uff09\u304b\u3089\u7591\u3044\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ul 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\u3002Xq27.3-q28\u9818\u57df\u306e\u91cd\u8907\u306e\u7bc4\u56f2\uff08\u30b5\u30a4\u30ba\uff09\u3068\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>MLPA\u6cd5:<br>MECP2\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u3092\u8fc5\u901f\u304b\u3064\u6b63\u78ba\u306b\u6e2c\u5b9a\u3059\u308b\u306e\u306b\u9069\u3057\u3066\u304a\u308a\u3001\u521d\u671f\u8a3a\u65ad\u3067\u591a\u7528\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u91cd\u8907\u304c\u3042\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002\u7279\u306b\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u969b\u306b\u6709\u7528\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u6881\u306e\u83f2\u8584\u5316\uff08\u8584\u304f\u306a\u308b\u3053\u3068\uff09\u3084\u767d\u8cea\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u6ce2\u691c\u67fb:<\/strong> \u3066\u3093\u304b\u3093\u306e\u6709\u7121\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u56a5\u4e0b\u9020\u5f71\u691c\u67fb:<\/strong> \u8aa4\u56a5\u306e\u30ea\u30b9\u30af\u3092\u8a55\u4fa1\u3057\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>\u6839\u672c\u7684\u306b\u300c\u91cd\u8907\u3057\u305f\u907a\u4f1d\u5b50\u3092\u6e1b\u3089\u3059\u300d\u6cbb\u7642\u6cd5\u306f\u73fe\u5728\u7814\u7a76\u6bb5\u968e\u3067\u3059\u3002\u6cbb\u7642\u306f\u3001\u5408\u4f75\u75c7\u304b\u3089\u547d\u3092\u5b88\u308a\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e**\u300c\u96c6\u5b66\u7684\u306a\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u547c\u5438\u5668\u7ba1\u7406\u3068\u611f\u67d3\u75c7\u4e88\u9632<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ba\u708e\u306e\u4e88\u9632:<\/strong> \u6700\u3082\u91cd\u8981\u3067\u3059\u3002\u8aa4\u56a5\u3092\u9632\u3050\u305f\u3081\u306e\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\u3001\u5b9a\u671f\u7684\u306a\u6392\u75f0\u30b1\u30a2\uff08\u547c\u5438\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\u3001\u4e88\u9632\u7684\u306a\u6297\u751f\u7269\u8cea\u306e\u6295\u4e0e\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u306e\u88dc\u5f37:<\/strong> \u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u5024\u304c\u4f4e\u3044\u5834\u5408\u306f\u3001\u88dc\u5145\u7642\u6cd5\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6804\u990a\u7ba1\u7406\u3068\u6442\u98df\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u56a5\u4e0b\u8a13\u7df4:<\/strong> \u8a00\u8a9e\u7642\u6cd5\u58eb\uff08ST\uff09\u306b\u3088\u308b\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u7ba1\u6804\u990a\u306e\u691c\u8a0e:<\/strong> \u8aa4\u56a5\u306e\u30ea\u30b9\u30af\u304c\u975e\u5e38\u306b\u9ad8\u3044\u5834\u5408\u3084\u3001\u6804\u990a\u72b6\u614b\u304c\u6539\u5584\u3057\u306a\u3044\u5834\u5408\u306f\u3001\u80c3\u763b\uff08\u3044\u308d\u3046\uff09\u306e\u9020\u8a2d\u304c\u65e9\u671f\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u3066\u3093\u304b\u3093\u3068\u7b4b\u7dca\u5f35\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac:<\/strong> \u5c02\u9580\u533b\u306b\u3088\u308b\u591a\u5264\u4f75\u7528\u3092\u542b\u3080\u85ac\u5264\u8abf\u6574\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3084\u88c5\u5177\u306e\u4f7f\u7528\u306b\u3088\u308a\u3001\u8db3\u3084\u624b\u306e\u5909\u5f62\uff08\u62d8\u7e2e\uff09\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\uff08ASO\uff09\u7642\u6cd5:<\/strong> \u904e\u5270\u306aMECP2\u306e\u50cd\u304d\u3092\u6291\u3048\u308b\u6cbb\u7642\u6cd5\u304c\u52d5\u7269\u30e2\u30c7\u30eb\u3067\u6210\u529f\u3057\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u30d2\u30c8\u3078\u306e\u81e8\u5e8a\u5fdc\u7528\u304c\u975e\u5e38\u306b\u671f\u5f85\u3055\u308c\u3066\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> \u547c\u5438\u5668\u611f\u67d3\u75c7\u306e\u7ba1\u7406\u304c\u4e88\u5f8c\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002\u304b\u3064\u3066\u306f25\u6b73\u524d\u5f8c\u3067\u306e\u6b7b\u4ea1\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u4ee3\u306e\u96c6\u5b66\u7684\u306a\u30b1\u30a2\u306b\u3088\u308a\u300130\u4ee3\u300140\u4ee3\u3092\u8fce\u3048\u308b\u75c7\u4f8b\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u5e38\u306b\u4ecb\u52a9\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u306a\u3069\u306eICT\u6a5f\u5668\u3092\u7528\u3044\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u53ef\u80fd\u6027\u304c\u6a21\u7d22\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Xq27.3-q28 duplication syndrome\uff08Xq27.3-q28\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\u306b\u3042\u308b\u300cMECP2\u300d\u3068\u3044\u3046\u3001\u8133\u306e\u6210\u9577\u306b\u6b20\u304b\u305b\u306a\u3044\u5927\u5207\u306a\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u304c\u3001\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>\u3053\u306e\u8a2d\u8a08\u56f3\u306f\u3001\u5c11\u306a\u3059\u304e\u3066\u3082\u591a\u3059\u304e\u3066\u3082\u3044\u3051\u306a\u3044\u975e\u5e38\u306b\u7e4a\u7d30\u306a\u3082\u306e\u3067\u3001\u591a\u3059\u304e\u308b\u3068\u8133\u306e\u4fe1\u53f7\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u304f\u306a\u308a\u3001\u91cd\u3044\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u80ba\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u304f\u306a\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u6bcd\u69d8\u304c\u3053\u306e\u4f53\u8cea\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u51fa\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u606f\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u3092\u304d\u3063\u304b\u3051\u306b\u5bb6\u65cf\u306e\u3053\u3068\u304c\u308f\u304b\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u7814\u7a76\u4e2d\u3067\u3059\u304c\u3001\u80ba\u708e\u3092\u9632\u3050\u305f\u3081\u306e\u5de5\u592b\u3084\u3001\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642\u3001\u305d\u3057\u3066\u6804\u990a\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u4e00\u3064\u3072\u3068\u3064\u4e01\u5be7\u306b\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u304c\u5b89\u5fc3\u3057\u3066\u904e\u3054\u305b\u308b\u6642\u9593\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u306e\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u5c0f\u3055\u306a\u5909\u5316\u306b\u5bc4\u308a\u6dfb\u3044\u306a\u304c\u3089\u3001\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>Lubs, H. A., et al.<\/strong> (1999). <em>A new X-linked mental retardation syndrome with characteristic facies, small testes, and severe mental retardation.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75c7\u5019\u7fa4\u3092\u81e8\u5e8a\u7684\u306b\u5b9a\u7fa9\u3057\u305f\u6700\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Van Esch, H., et al.<\/strong> (2005). <em>Duplication of MECP2 in extended families is associated with severe mental retardation and recurrent pyogenic infections.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08MECP2\u306e\u91cd\u8907\u304c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3068\u611f\u67d3\u75c7\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>MECP2 Duplication Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u7ba1\u7406\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\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>Xq27.3-q28 duplications: 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>Ramocki, M. B., et al.<\/strong> (2009). <em>The MECP2 duplication syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u4e88\u5f8c\u3001\u6cbb\u7642\u6226\u7565\u3092\u307e\u3068\u3081\u305f\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Meins, M., et al.<\/strong> (2005). <em>Submicroscopic duplication in Xq28 causes increased MECP2 expression and a recognizable neurodevelopmental phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306b\u3088\u308b\u907a\u4f1d\u5b50\u904e\u5270\u767a\u73fe\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u89e3\u8aac\u3057\u305f\u6587\u732e\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-17571","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\/17571","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17571\/revisions"}],"predecessor-version":[{"id":17572,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17571\/revisions\/17572"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17571"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}