{"id":17536,"date":"2026-01-22T06:42:22","date_gmt":"2026-01-22T06:42:22","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17536"},"modified":"2026-01-22T06:42:22","modified_gmt":"2026-01-22T06:42:22","slug":"xp11-23-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xp11-23-microdeletion-syndrome\/","title":{"rendered":"Xp11.23 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>Xp11.23\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>HSD17B10\u95a2\u9023\u7cbe\u795e\u9045\u6ede<\/strong><\/li>\n\n\n\n<li><strong>HUWE1\u95a2\u9023\u77e5\u7684\u969c\u5bb3\uff08\u6b20\u5931\u578b\uff09<\/strong><\/li>\n\n\n\n<li><strong>X\u9023\u9396\u77e5\u7684\u969c\u5bb3\uff08XLID\uff09\u306e\u7279\u5b9a\u306e\u30b5\u30d6\u30bf\u30a4\u30d7<\/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\uff0911.23\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>Xp11.23\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c11.23\u300d\u3068\u3044\u3046\u975e\u5e38\u306b\u9650\u5b9a\u3055\u308c\u305f\u9818\u57df\u304c\u3001\u4f55\u3089\u304b\u306e\u539f\u56e0\u3067\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\u8133\u306e\u6b63\u5e38\u306a\u767a\u9054\u3084\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u3001\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5206\u89e3\u3092\u8abf\u7bc0\u3059\u308b\u6975\u3081\u3066\u91cd\u8981\u306a\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>\u6b20\u5931\u3059\u308b\u7bc4\u56f2\u306f\u75c7\u4f8b\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u6838\u5fc3\u3092\u62c5\u3063\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>HSD17B10\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067\u306e\u8102\u80aa\u9178\u4ee3\u8b1d\u3084\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\u306e\u5206\u89e3\u3001\u3055\u3089\u306bRNA\u306e\u30d7\u30ed\u30bb\u30b7\u30f3\u30b0\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u306f\u3001\u8133\u5185\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u4f9b\u7d66\u3084\u4ee3\u8b1d\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3057\u3001<strong>\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027<\/strong>\u3084<strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3<\/strong>\u3001<strong>\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong>\u3092\u62db\u304f\u4e3b\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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\u4e0d\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5206\u89e3\u3092\u30de\u30fc\u30af\u3059\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u5e79\u7d30\u80de\u306e\u5897\u6b96\u3084\u30b7\u30ca\u30d7\u30b9\u306e\u53ef\u5851\u6027\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u8133\u306e\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u6b20\u5931\uff08\u6a5f\u80fd\u55aa\u5931\uff09\u306b\u3088\u308a<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084<strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u7279\u6027<\/strong>\u3001<strong>\u5c0f\u982d\u75c7<\/strong>\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PHF8\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u30d2\u30b9\u30c8\u30f3\u8131\u30e1\u30c1\u30eb\u5316\u9175\u7d20\u3067\u3042\u308a\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u8abf\u7bc0\u3059\u308b\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u5236\u5fa1\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u6b20\u5931\u306b\u3088\u308a\u3001<strong>\u5b66\u7fd2\u969c\u5bb3<\/strong>\u3084<strong>\u9854\u8c8c\u306e\u8efd\u5fae\u306a\u7570\u5e38<\/strong>\u3001<strong>\u53e3\u5507\u88c2\u30fb\u53e3\u84cb\u88c2<\/strong>\u306b\u95a2\u9023\u3059\u308b\u3053\u3068\u304c\u5831\u544a\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>\u6975\u3081\u3066\u7a00\uff08\u4e0d\u660e\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u5168\u4e16\u754c\u3067\u3082\u5831\u544a\u4f8b\u304c\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u3044\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u7b97\u51fa\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u6570\u5341\u4e07\u4eba\u306b1\u4eba\u3001\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0b\u306e\u983b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u5f93\u6765\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044\u307b\u3069\u5c0f\u3055\u306a<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u666e\u53ca\u3059\u308b\u307e\u3067\u306f\u3001\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u304d\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\u306b\u3088\u308b\u5f71\u97ff:<\/strong> X\u67d3\u8272\u4f53\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u7537\u6027\uff08XY\uff09\u3067\u306f\u6b20\u5931\u306e\u5f71\u97ff\u3092\u88dc\u3046\u305f\u3081\u306e\u3082\u30461\u672c\u306eX\u67d3\u8272\u4f53\u304c\u306a\u3044\u305f\u3081\u3001\u5973\u6027\u3088\u308a\u3082\u75c7\u72b6\u304c\u91cd\u7be4\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u5973\u6027\uff08XX\uff09\u3067\u3082\u300cX\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u300d\u306e\u504f\u308a\u306b\u3088\u308a\u3001\u91cd\u3044\u75c7\u72b6\u3092\u5448\u3059\u308b\u30b1\u30fc\u30b9\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\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>Xp11.23\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u795e\u7d4c\u767a\u9054\u306e\u9045\u6ede\u3092\u4e3b\u8ef8\u3068\u3057\u3001\u591a\u69d8\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u3092\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong> \u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u7537\u6027\u3067\u306f\u91cd\u5ea6\u304b\u3089\u6700\u91cd\u5ea6\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u5973\u6027\u3067\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c:<\/strong> \u8a00\u8449\u306e\u767a\u8a71\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u975e\u8a00\u8a9e\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u7559\u307e\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3059\u308b\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\u306e\u72b6\u614b\u3067\u751f\u307e\u308c\u308b\u3053\u3068\u3082\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> \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\u30eb\u30fc\u30c1\u30f3\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> \u591a\u52d5\u6027\u3084\u885d\u52d5\u6027\u3001\u6ce8\u610f\u306e\u6301\u7d9a\u306e\u56f0\u96e3\u3055\u304c\u898b\u3089\u308c\u3001\u6559\u80b2\u73fe\u5834\u3067\u306e\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u904e\u654f:<\/strong> \u7279\u5b9a\u306e\u97f3\u3084\u611f\u89e6\u306b\u5bfe\u3057\u3066\u904e\u654f\u306a\u53cd\u5fdc\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>\u5287\u7684\u306a\u5947\u5f62\u306f\u5c11\u306a\u3044\u3082\u306e\u306e\u3001\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong> \u8133\u306e\u5bb9\u7a4d\u304c\u5c0f\u3055\u304f\u3001\u982d\u56f2\u304c\u6a19\u6e96\u3092\u4e0b\u56de\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>\u9ad8\u3044\u984d\uff08\u524d\u982d\u90e8\u306e\u7a81\u51fa\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<\/li>\n\n\n\n<li>\u77ed\u3044\u9f3b\u3001\u3042\u308b\u3044\u306f\u4e0a\u5411\u304d\u306e\u9f3b\u5b54<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u4e0d\u5168:<\/strong> \u51fa\u751f\u6642\u304b\u3089\u5c0f\u67c4\uff08\u80ce\u5185\u767a\u80b2\u4e0d\u5168\uff09\u3067\u3042\u3063\u305f\u308a\u3001\u51fa\u751f\u5f8c\u306e\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3042\u3063\u305f\u308a\u3057\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> \u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u56a5\u4e0b\u969c\u5bb3:<\/strong> \u98df\u3079\u7269\u306e\u98f2\u307f\u8fbc\u307f\u304c\u4e0a\u624b\u304f\u3044\u304b\u305a\u3001\u8aa4\u56a5\u3084\u4f4e\u6804\u990a\u306e\u30ea\u30b9\u30af\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3001\u307e\u305f\u306f\u8996\u795e\u7d4c\u306e\u8efd\u5ea6\u306a\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>Xp11.23\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\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\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u7fa4\u304c\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u306e\u4f4e\u4e0b\uff09\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 deletion\uff09:<br>\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u69cb\u6210\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\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6bcd\u89aa\u304b\u3089\u306e\u7d99\u627f:<br>\u75c7\u72b6\u304c\u8efd\u5fae\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u7121\u75c7\u72b6\u306e\u6bcd\u89aa\uff08X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306b\u3088\u308a\u3001\u6b63\u5e38\u306a\u65b9\u306eX\u67d3\u8272\u4f53\u304c\u512a\u5148\u7684\u306b\u50cd\u3044\u3066\u3044\u308b\u5834\u5408\uff09\u304b\u3089\u606f\u5b50\u3078\u3001\u6b20\u5931\u3057\u305fX\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4ee3\u8b1d\u306e\u6a5f\u80fd\u4e0d\u5168:<br>HSD17B10\u907a\u4f1d\u5b50\u304c\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u5185\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u5de5\u5834\u3067\u3042\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u50cd\u304d\u304c\u963b\u5bb3\u3055\u308c\u3001\u7279\u306b\u30a8\u30cd\u30eb\u30ae\u30fc\u6d88\u8cbb\u306e\u6fc0\u3057\u3044\u8133\u7d30\u80de\u306b\u304a\u3044\u3066\u5909\u6027\u3084\u767a\u9054\u306e\u505c\u6b62\u304c\u8d77\u3053\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>\u5916\u898b\u304b\u3089\u306f\u4ed6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u3068\u306e\u533a\u5225\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300211.23\u9818\u57df\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3057\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u304b\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\u308b\u89e3\u6790:<br>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306a\u3069\u3092\u7528\u3044\u3066\u3001\u6b20\u5931\u90e8\u4f4d\u306e\u5883\u754c\u3084\u3001\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u3078\u306e\u5f71\u97ff\u3092\u8a73\u7d30\u306b\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u300111.23\u9818\u57df\u304c1\u672c\u5206\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4ee3\u8b1d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0:<br>HSD17B10\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u5c3f\u6709\u6a5f\u9178\u5206\u6790\u306a\u3069\u3067\u4ee3\u8b1d\u7523\u7269\u306e\u7570\u5e38\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u304c\u3042\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u88dc\u5145\u30fb\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5bc4\u308a\u6dfb\u3044\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e**\u300c\u5305\u62ec\u7684\u306a\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u65e9\u671f\u304b\u3089\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u5411\u4e0a\u3092\u56f3\u308a\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d75\u30ab\u30fc\u30c9\u3084\u652f\u63f4\u30c7\u30d0\u30a4\u30b9\uff08AAC\uff09\u3092\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u8a13\u7df4\u3084\u3001\u624b\u5148\u306e\u5668\u7528\u3055\u3092\u990a\u3044\u307e\u3059\u3002\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u7570\u5e38\uff08\u4f4e\u7dca\u5f35\uff09\u3092\u30ab\u30d0\u30fc\u3059\u308b\u305f\u3081\u306e\u7b4b\u529b\u7dad\u6301\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406:<\/strong> \u8133\u6ce2\u691c\u67fb\u306b\u57fa\u3065\u304d\u3001\u9069\u5207\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u9078\u629e\u3057\u3066\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8:<\/strong> \u56a5\u4e0b\u969c\u5bb3\u3084\u6210\u9577\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u3001\u6804\u990a\u58eb\u3068\u9023\u643a\u3057\u305f\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\u3084\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u98df\u306e\u63d0\u4f9b\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u53d7\u8a3a:<\/strong> \u611f\u899a\u5668\u306e\u7570\u5e38\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u9069\u5207\u306b\u77ef\u6b63\u30fb\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/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>\u81ea\u9589\u7684\u7279\u6027\u3084\u884c\u52d5\u8ab2\u984c\uff08\u30d1\u30cb\u30c3\u30af\u306a\u3069\uff09\u306b\u5bfe\u3057\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u306e\u5fc3\u7406\u7684\u4ecb\u5165\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u306b\u5bfe\u3059\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u3001\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\uff08\u4e00\u6642\u9810\u304b\u308a\u652f\u63f4\uff09\u306b\u3088\u308b\u8ca0\u62c5\u8efd\u6e1b\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> \u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u3044\u305f\u3081\u3001\u591a\u304f\u306e\u5834\u5408\u3067\u6210\u4eba\u671f\u3092\u8fce\u3048\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u305f\u3060\u3057\u3001HSD17B10\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u304c\u5f37\u3044\u75c7\u4f8b\u3067\u306f\u3001\u7a00\u306b\u795e\u7d4c\u75c7\u72b6\u304c\u9032\u884c\u6027\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u614e\u91cd\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u6b20\u5931\u306e\u7bc4\u56f2\u3084\u65e9\u671f\u4ecb\u5165\u306e\u6709\u7121\u306b\u5de6\u53f3\u3055\u308c\u307e\u3059\u304c\u3001\u751f\u6daf\u306b\u308f\u305f\u308a\u4e00\u5b9a\u306e\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u3068\u4ecb\u8b77\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u793e\u4f1a\u53c2\u52a0:<\/strong> \u9069\u5207\u306a\u652f\u63f4\u74b0\u5883\u4e0b\u306b\u304a\u3044\u3066\u3001\u798f\u7949\u5c31\u52b4\u3084\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u3092\u901a\u3058\u305f\u793e\u4f1a\u53c2\u52a0\u304c\u884c\u308f\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>Xp11.23 microdeletion syndrome\uff08Xp11.23\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u306f\u3001\u5973\u6027\u306e\u6027\u67d3\u8272\u4f53\u3067\u3042\u308bX\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u3001\u307b\u3093\u306e\u5c11\u3057\u3060\u3051\u8db3\u308a\u306a\u3044\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u8a00\u8449\u306e\u80b2\u3061\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3001\u305d\u3057\u3066\u982d\u56f2\u304c\u5c11\u3057\u5c0f\u3055\u3044\u3068\u3044\u3063\u305f\u70b9\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u8133\u306e\u6210\u9577\u3084\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306b\u6b20\u304b\u305b\u306a\u3044\u300c\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u300d\u304c\u4e00\u90e8\u5931\u308f\u308c\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5916\u898b\u3060\u3051\u3067\u306f\u5224\u65ad\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306a\u3069\u3067\u539f\u56e0\u304c\u308f\u304b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u304c\u62b1\u3048\u308b\u56f0\u96e3\u306e\u300c\u6b63\u4f53\u300d\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u7642\u80b2\u3084\u6559\u80b2\u652f\u63f4\u306b\u7e4b\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u5de5\u592b\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u3084\u7642\u80b2\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u304c\u5b89\u5fc3\u3057\u3066\u81ea\u5206\u3089\u3057\u304f\u904e\u3054\u305b\u308b\u74b0\u5883\u3092\u3001\u9577\u3044\u76ee\u3067\u80b2\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>VanderMeer, J. E., et al.<\/strong> (2012). <em>HSD17B10 deficiency: An enzyme deficiency resulting in a progressive neurodegenerative phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08HSD17B10\u907a\u4f1d\u5b50\u6b20\u4e4f\u304c\u795e\u7d4c\u5909\u6027\u3068\u77e5\u7684\u969c\u5bb3\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092\u8a73\u8ff0\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Moortgat, S., et al.<\/strong> (2018). <em>HUWE1-associated intellectual disability: a series of individuals with a broad phenotypic spectrum.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08HUWE1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u75c7\u4f8b\u5831\u544a\u306e\u96c6\u7a4d\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Fauchereau, F., et al.<\/strong> (2011). <em>Molecular and clinical characterization of Xp11.23 microdeletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xp11.23\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u306b\u304a\u3051\u308b\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u30fb\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u5b9a\u7fa9\u3057\u305f\u91cd\u8981\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Xp11.23 Microdeletion Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u57fa\u6e96\u3001\u7ba1\u7406\u6307\u91dd\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>Xp11.23 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>Deciphering Developmental Disorders (DDD) Study<\/strong>: <em>Clinical report on Xp11.23 deletions<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5927\u898f\u6a21\u30b2\u30ce\u30e0\u89e3\u6790\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306b\u3088\u308b\u3001\u6700\u65b0\u306e\u81e8\u5e8a\u7d71\u8a08\u30c7\u30fc\u30bf\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-17536","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\/17536","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\/17536\/revisions"}],"predecessor-version":[{"id":17537,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17536\/revisions\/17537"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17536"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}