{"id":17531,"date":"2026-01-22T06:38:33","date_gmt":"2026-01-22T06:38:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17531"},"modified":"2026-01-22T06:39:19","modified_gmt":"2026-01-22T06:39:19","slug":"xp11-22-p11-23-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xp11-22-p11-23-duplication-syndrome\/","title":{"rendered":"Xp11.22-p11.23 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>Xp11.22-p11.23\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\uff08Xp11.22-p11.23 microduplication syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>HUWE1\u95a2\u9023\u77e5\u7684\u969c\u5bb3<\/strong><\/li>\n\n\n\n<li><strong>Xp11.22\u30b3\u30d4\u30fc\u6570\u591a\u578b\uff08CNV\uff09\u95a2\u9023\u75be\u60a3<\/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\uff0911.22\u9818\u57df\u304b\u308911.23\u9818\u57df\u306b\u304b\u3051\u3066\u306e\u5fae\u5c0f\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>Xp11.22-p11.23\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c11.22\u300d\u304b\u3089\u300c11.23\u300d\u3068\u3044\u3046\u975e\u5e38\u306b\u9650\u5b9a\u3055\u308c\u305f\u9818\u57df\u304c\u3001\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\u306b\u306f\u8133\u306e\u767a\u9054\u3084\u795e\u7d4c\u7d30\u80de\u306e\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u306e\u904e\u5270\u767a\u73fe\u304c\u75c5\u614b\u306e\u6838\u5fc3\u3068\u306a\u308a\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\u306f\u75c7\u4f8b\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u306f\u7d040.5Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u304b\u3089\u6570Mb\u306e\u7bc4\u56f2\u306b\u53ca\u3073\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u306b\u5f37\u304f\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HUWE1 \u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u30e6\u30d3\u30ad\u30c1\u30f3\u30fb\u30ea\u30ac\u30fc\u30bc\u3092\u30b3\u30fc\u30c9\u3057\u3001\u795e\u7d4c\u5e79\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3001DNA\u4fee\u5fa9\u306a\u3069\u3092\u5236\u5fa1\u3059\u308b\u6975\u3081\u3066\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u306b\u304a\u3044\u3066<strong>\u6700\u3082\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3068\u76ee\u3055\u308c\u3066\u304a\u308a\u3001\u904e\u5270\u767a\u73fe\u304c\u8133\u306e\u795e\u7d4c\u56de\u8def\u5f62\u6210\u3092\u59a8\u3052\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084<strong>\u9854\u8c8c\u7570\u5e38<\/strong>\u3001<strong>\u5c0f\u982d\u75c7<\/strong>\u3092\u5f15\u304d\u8d77\u3053\u3059\u4e3b\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GDI1 \u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u795e\u7d4c\u7d30\u80de\u5185\u3067\u306e\u30b7\u30ca\u30d7\u30b9\u5c0f\u80de\u306e\u653e\u51fa\u306a\u3069\u306e\u7269\u8cea\u8f38\u9001\u3092\u8abf\u7bc0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u69cb\u7bc9\u3084\u4fe1\u53f7\u4f1d\u9054\u306b\u7570\u5e38\u3092\u6765\u3057\u3001<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084<strong>\u767a\u9054\u9045\u6ede<\/strong>\u3092\u5897\u5e45\u3055\u305b\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CENPV \u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u7d30\u80de\u5206\u88c2\u306e\u969b\u306e\u67d3\u8272\u4f53\u5206\u96e2\u3092\u52a9\u3051\u308b\u52d5\u539f\u4f53\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u8133\u306e\u521d\u671f\u767a\u9054\u6bb5\u968e\u306b\u304a\u3051\u308b\u7d30\u80de\u5897\u6b96\u306e\u5236\u5fa1\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001<strong>\u5c0f\u982d\u75c7<\/strong>\u3078\u306e\u95a2\u4e0e\u304c\u6307\u6458\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\u6975\u3081\u3066\u7a00\u3001\u3042\u308b\u3044\u306f\u904e\u5c11\u8a3a\u65ad\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u6bd4\u8f03\u7684\u65b0\u3057\u304f\u767a\u898b\u3055\u308c\u305f\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308a\u3001\u5168\u4e16\u754c\u3067\u3082\u5831\u544a\u4f8b\u306f\u9650\u3089\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u691c\u51fa\u56f0\u96e3\u306a<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u3067\u3042\u308b\u305f\u3081\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u4ee5\u524d\u306f\u898b\u9003\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u73fe\u5728\u3001\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u3084ASD\u3092\u6301\u3064\u60a3\u8005\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3088\u308a\u3001\u767a\u898b\u4f8b\u304c\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\u306e\u5f71\u97ff:<\/strong> X\u67d3\u8272\u4f53\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u7537\u6027\u306e\u65b9\u304c\u5973\u6027\u3088\u308a\u3082\u75c7\u72b6\u304c\u91cd\u304f\u73fe\u308c\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u5973\u6027\u306fX\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306b\u3088\u308a\u3001\u7121\u75c7\u72b6\u304b\u3089\u8efd\u75c7\u307e\u3067\u75c7\u72b6\u304c\u5206\u6563\u3057\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>Xp11.22-p11.23\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u795e\u7d4c\u767a\u9054\u306e\u9045\u6ede\u3092\u6838\u3068\u3057\u3066\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u3068\u8a8d\u77e5\u6a5f\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\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001HUWE1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5834\u5408\u306f\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u5224\u65ad\u529b\u306b\u56f0\u96e3\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u306b\u6bd4\u3079\u3066\u3001\u8a00\u8449\u306e\u8868\u51fa\uff08\u8a71\u3059\u3053\u3068\uff09\u3084\u7406\u89e3\u306e\u9045\u308c\u304c\u9855\u8457\u306b\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong> \u4e73\u5e7c\u5150\u671f\u306e\u30cf\u30a4\u30cf\u30a4\u3084\u6b69\u884c\u958b\u59cb\u6642\u671f\u304c\u6a19\u6e96\u3088\u308a\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u7279\u6027\u3068\u7cbe\u795e\u533b\u5b66\u7684\u75c7\u72b6<\/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> \u76f8\u4e92\u7684\u306a\u5bfe\u4eba\u95a2\u4fc2\u306e\u69cb\u7bc9\u306e\u96e3\u3057\u3055\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u969c\u5bb3\u3001\u7279\u5b9a\u306e\u5bfe\u8c61\u3078\u306e\u5f37\u3044\u3053\u3060\u308f\u308a\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09:<\/strong> \u96c6\u4e2d\u529b\u306e\u6b20\u5982\u3001\u591a\u52d5\u6027\u3001\u885d\u52d5\u6027\u304c\u898b\u3089\u308c\u3001\u5b66\u7fd2\u74b0\u5883\u306b\u304a\u3051\u308b\u5927\u304d\u306a\u969c\u58c1\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u5b89\u969c\u5bb3\u30fb\u60c5\u7dd2\u306e\u4e0d\u5b89\u5b9a\u3055:<\/strong> \u74b0\u5883\u306e\u5909\u5316\u306b\u5bfe\u3057\u3066\u30d1\u30cb\u30c3\u30af\u3092\u8d77\u3053\u3057\u305f\u308a\u3001\u6975\u5ea6\u306e\u4e0d\u5b89\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u30fb\u9854\u8c8c\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u7279\u5b9a\u306e\u300c\u75c7\u5019\u7fa4\u7684\u9854\u8c8c\u300d\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong> \u982d\u56f2\u304c\u5e74\u9f62\u6a19\u6e96\u3088\u308a\u3082\u5c0f\u3055\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u7684\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u984d\uff08\u9ad8\u524d\u982d\uff09<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u3044\uff09<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u306e\u5e73\u5766\u5316\u3001\u3042\u308b\u3044\u306f\u77ed\u3044\u9f3b<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u306e\u9045\u308c:<\/strong> \u51fa\u751f\u6642\u3088\u308a\u5c0f\u67c4\u3067\u3042\u308b\u3001\u3042\u308b\u3044\u306f\u6210\u9577\u306e\u30b9\u30d4\u30fc\u30c9\u304c\u7de9\u3084\u304b\u3067\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b:<\/strong> \u4e73\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u3044\uff08\u4f4e\u7dca\u5f35\uff09\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u7570\u5e38:<\/strong> \u659c\u8996\u3084\u773c\u632f\u3001\u5c48\u6298\u7570\u5e38\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>Xp11.22-p11.23\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\uff08X\u9023\u9396\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\u306e\u907a\u4f1d\u5b50\u91cf\u304c\u5897\u52a0\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo duplication\uff09\uff1a<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3084\u521d\u671f\u80da\u306e\u5206\u88c2\u6642\u306b\u5076\u7136\u3001\u5fae\u5c0f\u91cd\u8907\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6bcd\u89aa\u304b\u3089\u306e\u7d99\u627f\uff1a<br>\u75c7\u72b6\u304c\u8efd\u5fae\u3001\u3042\u308b\u3044\u306f\u7121\u75c7\u72b6\u306e\u6bcd\u89aa\u304b\u3089\u606f\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u3002\u3053\u306e\u5834\u5408\u3001X\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u7537\u6027\uff08\u606f\u5b50\uff09\u3067\u306f\u3001\u91cd\u8907\u306e\u5f71\u97ff\u304c\u6700\u5927\u9650\u306b\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u5bfe\u7167\u7684\u306a\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff1a<br>\u901a\u5e38\u306f\u9069\u5207\u306b\u5236\u5fa1\u3055\u308c\u308b\u3079\u304dHUWE1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u3001\u91cd\u8907\u306b\u3088\u3063\u3066\u904e\u5270\u306b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u7523\u751f\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u7279\u306b\u8133\u306e\u30b7\u30ca\u30d7\u30b9\u5f62\u6210\u3084\u795e\u7d4c\u7d30\u80de\u306e\u5897\u6b96\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\u306e\u69cb\u7bc9\u306b\u4e0d\u5747\u8861\u304c\u751f\u3058\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>\u5916\u898b\u304b\u3089\u306f\u5224\u65ad\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u73fe\u4ee3\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u304c\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308a\u307e\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\uff1a<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300211.22-11.23\u9818\u57df\u306e\u5fae\u5c0f\u306a\u91cd\u8907\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3057\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u6b63\u78ba\u306a\u7bc4\u56f2\u3068\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u306b\u3088\u308bCNV\u89e3\u6790\uff1a<br>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306a\u3069\u306e\u904e\u7a0b\u3067\u3001\u30b3\u30d4\u30fc\u6570\u591a\u578b\uff08CNV\uff09\u3068\u3057\u3066\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5\uff1a<br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u30b3\u30d4\u30fc\u6570\u304c\u5897\u3048\u3066\u3044\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5bb6\u65cf\u5185\u691c\u67fb\uff08\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u304b\u3069\u3046\u304b\u306e\u78ba\u8a8d\uff09\u306b\u7528\u3044\u3089\u308c\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\u91cd\u8907\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d6\u308a\u9664\u304f\u300d\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u4e3b\u773c\u306f\u3001\u500b\u3005\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f**\u300c\u5305\u62ec\u7684\u306a\u767a\u9054\u652f\u63f4\u300d**\u3068\u3001\u5408\u4f75\u75c7\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6559\u80b2\u30fb\u7642\u80b2\u7684\u4ecb\u5165\uff08\u6700\u512a\u5148\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2\uff1a<\/strong> \u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u306b\u3088\u308b\u5fae\u7d30\u904b\u52d5\u3084\u611f\u899a\u7d71\u5408\u306e\u8a13\u7df4\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u306b\u3088\u308b\u7c97\u5927\u904b\u52d5\u306e\u652f\u63f4\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2\uff1a<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084ASD\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u4f5c\u6210\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u533b\u5b66\u7684\u30fb\u884c\u52d5\u7684\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5\uff1a<\/strong> \u30d1\u30cb\u30c3\u30af\u3084\u3053\u3060\u308f\u308a\u3001\u4e0d\u9069\u5207\u306a\u884c\u52d5\u306e\u8efd\u6e1b\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5\uff1a<\/strong> ADHD\u75c7\u72b6\u3084\u591a\u52d5\u3001\u4e0d\u5b89\u304c\u5f37\u3044\u5834\u5408\u306b\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u6295\u85ac\u691c\u8a0e\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\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>\u3066\u3093\u304b\u3093\u6cbb\u7642\uff1a<\/strong> \u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u9069\u5207\u306a\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u5b9a\u671f\u53d7\u8a3a\uff1a<\/strong> \u659c\u8996\u3084\u8996\u529b\u7570\u5e38\u306e\u65e9\u671f\u767a\u898b\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> \u751f\u547d\u3092\u8105\u304b\u3059\u3088\u3046\u306a\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u306f\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u91cd\u8907\u306e\u7bc4\u56f2\u3084\u65e9\u671f\u4ecb\u5165\u306e\u6709\u7121\u306b\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002\u751f\u6daf\u306b\u308f\u305f\u308b\u4e00\u5b9a\u306e\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\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>Xp11.22-p11.23 duplication syndrome\uff08Xp11.22-p11.23\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u90e8\u5206\u304c\u5c11\u3057\u3060\u3051\u591a\u304f\u5b58\u5728\u3059\u308b\uff08\u5fae\u5c0f\u91cd\u8907\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u8133\u306e\u767a\u9054\u3084\u8a00\u8449\u306e\u80b2\u3061\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a00\u8449\u304c\u306a\u304b\u306a\u304b\u51fa\u306a\u3044\u300d\u300c\u5bfe\u4eba\u95a2\u4fc2\u304c\u5c11\u3057\u82e6\u624b\u300d\u300c\u982d\u56f2\u304c\u5c11\u3057\u5c0f\u3055\u3044\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u8133\u5185\u306e\u5927\u5207\u306a\u8a2d\u8a08\u56f3\u304c\u5c11\u3057\u904e\u5270\u306b\u50cd\u3044\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306a\u3069\u3067\u539f\u56e0\u304c\u308f\u304b\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u300c\u5b66\u3073\u65b9\u300d\u3084\u300c\u63a5\u3057\u65b9\u300d\u306e\u30d2\u30f3\u30c8\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u8a00\u8449\u306e\u7df4\u7fd2\u3084\u751f\u6d3b\u306e\u5de5\u592b\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u5e83\u3052\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>Fauchereau, F., et al.<\/strong> (2010). <em>GDI1 mutations and duplications in non-syndromic X-linked intellectual disability.<\/em><\/li>\n\n\n\n<li><strong>Froyen, G., et al.<\/strong> (2008). <em>Submicroscopic duplications of the hydroxysteroid dehydrogenase HS6ST2 gene at Xp11.22 in patients with intellectual disability.<\/em><\/li>\n\n\n\n<li><strong>Moortgat, S., et al.<\/strong> (2018). <em>HUWE1-associated intellectual disability: a series of 15 individuals with a broad phenotypic spectrum.<\/em><\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Xp11.22 Microduplication<\/em>. (NCBI).<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Xp11.22-p11.23 microduplications: A guide for families<\/em>.<\/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-17531","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\/17531","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\/17531\/revisions"}],"predecessor-version":[{"id":17535,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17531\/revisions\/17535"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17531"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}