{"id":17539,"date":"2026-01-22T06:44:46","date_gmt":"2026-01-22T06:44:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17539"},"modified":"2026-01-22T06:45:40","modified_gmt":"2026-01-22T06:45:40","slug":"xp11-3-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xp11-3-deletion-syndrome\/","title":{"rendered":"Xp11.3 deletion 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>Xp11.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff08Xp11.3 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>MAOA\/MAOB\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u30d6\u30eb\u30f3\u30ca\u30fc\u75c7\u5019\u7fa4\uff08Brunner syndrome\uff09\u306e\u91cd\u75c7\u578b\u30fb\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u578b<\/strong><\/li>\n\n\n\n<li><strong>\u30ce\u30fc\u30ea\u30fc\u75c5\uff08Norrie disease\uff09\u3092\u4f34\u3046\u77e5\u7684\u969c\u5bb3\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>NDP\/MAO\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>X\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0911.3\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>Xp11.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c11.3\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\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\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u5206\u89e3\u3084\u7db2\u819c\u30fb\u8840\u7ba1\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u6975\u3081\u3066\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u96a3\u63a5\u3057\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u4e00\u5ea6\u306b\u5931\u308f\u308c\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u6027\u8cea\u3092\u6301\u3061\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\u306e\u7bc4\u56f2\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u75c7\u72b6\u306e\u6838\u5fc3\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MAOA\u304a\u3088\u3073MAOB\u907a\u4f1d\u5b50 (Monoamine Oxidase A &amp; B):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u5185\u3067\u30c9\u30fc\u30d1\u30df\u30f3\u3001\u30bb\u30ed\u30c8\u30cb\u30f3\u3001\u30ce\u30eb\u30a2\u30c9\u30ec\u30ca\u30ea\u30f3\u306a\u3069\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u3053\u308c\u3089\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u8133\u5185\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3057\u3001<strong>\u885d\u52d5\u6027\u3001\u653b\u6483\u7684\u884c\u52d5\u3001\u7761\u7720\u969c\u5bb3\u3001\u77e5\u7684\u969c\u5bb3<\/strong>\u306e\u4e3b\u56e0\u3068\u306a\u308a\u307e\u3059\uff08\u7279\u306bMAOA\u306e\u6b20\u640d\u306f\u300c\u30d6\u30eb\u30f3\u30ca\u30fc\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NDP\u907a\u4f1d\u5b50 (Norrin Cystine Knot Growth Factor NDP):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u7db2\u819c\u306e\u8840\u7ba1\u5f62\u6210\u3084\u5185\u8033\u306e\u6a5f\u80fd\u3092\u7dad\u6301\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30ce\u30ea\u30f3\u300d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u640d\u306f<strong>\u30ce\u30fc\u30ea\u30fc\u75c5<\/strong>\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u8996\u899a\u969c\u5bb3\uff08\u7db2\u819c\u306e\u5265\u96e2\u3084\u5909\u6027\uff09\u3084\u3001\u5c06\u6765\u7684\u306a\u8074\u899a\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>EFHC2\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u306e\u767a\u9054\u904e\u7a0b\u306b\u304a\u3051\u308b\u7e4a\u6bdb\u6a5f\u80fd\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u30b7\u30b0\u30ca\u30eb\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u793e\u4f1a\u6027\u306e\u6b20\u5982\u3084\u3001\u4e00\u90e8\u306e\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u5168\u4e16\u754c\u3067\u3082\u5831\u544a\u4f8b\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u7b97\u51fa\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6570\u767e\u4e07\u4eba\u306b1\u4eba\u3001\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0b\u306e\u983b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\u306e\u5f71\u97ff:<\/strong> X\u9023\u9396\uff08X-linked\uff09\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7537\u6027\u3067\u306f1\u672c\u3057\u304b\u306a\u3044X\u67d3\u8272\u4f53\u306e11.3\u9818\u57df\u304c\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u91cd\u7be4\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u5973\u6027\u306f\u3082\u30461\u672c\u306e\u6b63\u5e38\u306aX\u67d3\u8272\u4f53\u304c\u3042\u308b\u305f\u3081\u3001\u901a\u5e38\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u304c\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u304c\u504f\u3063\u305f\u5834\u5408\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Xp11.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u611f\u899a\u5668\uff08\u76ee\u30fb\u8033\uff09\u3068\u7cbe\u795e\u30fb\u884c\u52d5\u9762\u306e\u4e21\u65b9\u306b\u9855\u8457\u306a\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8996\u899a\u969c\u5bb3\uff08\u30ce\u30fc\u30ea\u30fc\u75c5\u306e\u7279\u5fb4\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u7684\u306a\u8996\u529b\u55aa\u5931:<\/strong> \u591a\u304f\u306e\u7537\u6027\u60a3\u8005\u3067\u306f\u3001\u51fa\u751f\u6642\u307e\u305f\u306f\u4e73\u5150\u671f\u304b\u3089\u7db2\u819c\u306e\u5265\u96e2\u3001\u5897\u6b96\u3001\u5909\u6027\u304c\u898b\u3089\u308c\u3001\u5931\u660e\u3042\u308b\u3044\u306f\u91cd\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767d\u5185\u969c\u30fb\u773c\u7403\u7646:<\/strong> \u9032\u884c\u3059\u308b\u3068\u6c34\u6676\u4f53\u304c\u6fc1\u3063\u305f\u308a\u3001\u773c\u7403\u81ea\u4f53\u304c\u5c0f\u3055\u304f\u840e\u7e2e\u3057\u305f\u308a\u3059\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\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u4ee5\u4e0a\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u8996\u899a\u969c\u5bb3\u306e\u5f71\u97ff\u3082\u91cd\u306a\u308a\u3001\u8a00\u8449\u306e\u7372\u5f97\u3084\u6982\u5ff5\u306e\u7406\u89e3\u306b\u5927\u5e45\u306a\u9045\u308c\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38:<\/strong> \u4e73\u5150\u671f\u306b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u7684\u7279\u5fb4\uff08MAO\u6b20\u640d\u306e\u5f71\u97ff\uff09<\/strong><\/p>\n\n\n\n<p>MAO\u907a\u4f1d\u5b50\u7fa4\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u7279\u7570\u7684\u306a\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u653b\u6483\u7684\u30fb\u885d\u52d5\u7684\u884c\u52d5:<\/strong> \u7a81\u7136\u306e\u6012\u308a\u3001\u7269\u3092\u58ca\u3059\u3001\u81ea\u5206\u3084\u4ed6\u4eba\u3092\u50b7\u3064\u3051\u308b\u3068\u3044\u3063\u305f\u884c\u52d5\u304c\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u9855\u8457\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3:<\/strong> \u663c\u591c\u9006\u8ee2\u3084\u77ed\u6642\u9593\u306e\u7761\u7720\u306a\u3069\u3001\u7761\u7720\u30ea\u30ba\u30e0\u304c\u8457\u3057\u304f\u4e71\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u7279\u6027:<\/strong> \u5f37\u3044\u3053\u3060\u308f\u308a\u3084\u3001\u793e\u4f1a\u7684\u306a\u76f8\u4e92\u53cd\u5fdc\u306e\u56f0\u96e3\u3055\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u899a\u969c\u5bb3:<\/strong> 10\u4ee3\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u3001\u9032\u884c\u6027\u306e\u611f\u97f3\u96e3\u8074\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u7684\u7279\u5fb4:<\/strong> \u5287\u7684\u306a\u5947\u5f62\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u773c\u7403\u9665\u51f9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\uff09\u3001\u4f4e\u3044\u9f3b\u6839\u90e8\u3001\u8033\u306e\u4f4d\u7f6e\u306e\u7570\u5e38\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u982d\u75c7:<\/strong> \u8133\u306e\u5bb9\u7a4d\u304c\u308f\u305a\u304b\u306b\u5c0f\u3055\u304f\u306a\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>Xp11.3\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\u7269\u7406\u7684\u306b\u5931\u308f\u308c\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 deletion\uff09:<br>\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u69cb\u6210\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u30fb\u5375\u5b50\u306e\u5f62\u6210\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u306e\u521d\u671f\u6bb5\u968e\u3067\u5076\u7136\u306b\u5fae\u5c0f\u306a\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6bcd\u89aa\u304b\u3089\u306e\u7d99\u627f:<br>\u7121\u75c7\u72b6\u306e\u6bcd\u89aa\uff08\u4fdd\u56e0\u8005\uff09\u304b\u3089\u3001\u6b20\u640d\u3057\u305fX\u67d3\u8272\u4f53\u304c\u606f\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u3002\u3053\u306e\u5834\u5408\u3001\u5bb6\u7cfb\u5185\u306b\u8996\u899a\u969c\u5bb3\u3084\u77e5\u7684\u969c\u5bb3\u306e\u7537\u6027\u304c\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u4ee3\u8b1d\u4e0d\u5168:<br>MAOA\/B\u304c\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u5185\u306e\u300c\u30e2\u30ce\u30a2\u30df\u30f3\uff08\u30bb\u30ed\u30c8\u30cb\u30f3\u7b49\uff09\u300d\u306e\u5206\u89e3\u304c\u6b62\u307e\u308a\u3001\u60c5\u7dd2\u3084\u884c\u52d5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u751f\u7269\u5b66\u7684\u306b\u56f0\u96e3\u306b\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>\u5916\u898b\u3084\u75c7\u72b6\uff08\u8996\u899a\u969c\u5bb3\uff0b\u767a\u9054\u9045\u6ede\uff09\u304b\u3089\u7591\u3044\u3001\u6700\u65b0\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\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:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300211.3\u9818\u57df\u306e\u6570\u4e07\u301c\u6570\u767e\u4e07\u5869\u57fa\u306b\u308f\u305f\u308b\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:<br>\u7279\u306b\u5358\u4e00\u907a\u4f1d\u5b50\uff08NDP\u907a\u4f1d\u5b50\u306e\u307f\u7b49\uff09\u306e\u5909\u7570\u304b\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50\u3092\u5dfb\u304d\u8fbc\u3080\u300c\u6b20\u5931\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u300d\u304b\u3092\u5224\u5225\u3059\u308b\u305f\u3081\u306b\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u7684\u8a55\u4fa1:<br>\u773c\u5e95\u691c\u67fb\u3084\u753b\u50cf\u8a3a\u65ad\uff08OCT\u306a\u3069\uff09\u306b\u3088\u308a\u3001\u7db2\u819c\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8840\u6db2\u30fb\u751f\u5316\u5b66\u7684\u691c\u67fb:<br>MAO\u6d3b\u6027\u306e\u4f4e\u4e0b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u8840\u5c0f\u677f\u5185\u306eMAO\u6d3b\u6027\u6e2c\u5b9a\u3084\u3001\u5c3f\u4e2d\u306e\u4ee3\u8b1d\u7523\u7269\uff08\u30d0\u30cb\u30eb\u30de\u30f3\u30c7\u30eb\u9178\u306a\u3069\uff09\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\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8996\u899a\u30fb\u8074\u899a\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u306e\u773c\u79d1\u7684\u4ecb\u5165:<\/strong> \u7db2\u819c\u5265\u96e2\u306b\u5bfe\u3059\u308b\u30ec\u30fc\u30b6\u30fc\u6cbb\u7642\u3084\u624b\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u8996\u529b\u306e\u7dad\u6301\u304c\u56f0\u96e3\u306a\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u306e\u70b9\u5b57\u6559\u80b2\u3084\u8996\u899a\u652f\u63f4\u3001\u76f2\u5b66\u6821\u3067\u306e\u7642\u80b2\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8074\u529b\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong> \u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7cbe\u795e\u30fb\u884c\u52d5\u9762\u306e\u7ba1\u7406\uff08MAO\u6b20\u640d\u3078\u306e\u5bfe\u5fdc\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong> \u885d\u52d5\u6027\u3084\u653b\u6483\u6027\u3001\u7761\u7720\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u30bb\u30ed\u30c8\u30cb\u30f3\u53d7\u5bb9\u4f53\u306b\u4f5c\u7528\u3059\u308b\u85ac\u5264\u3084\u3001\u6c17\u5206\u306e\u5b89\u5b9a\u3092\u56f3\u308b\u85ac\u5264\u3092\u5c02\u9580\u533b\uff08\u7cbe\u795e\u79d1\u30fb\u795e\u7d4c\u79d1\uff09\u306e\u6307\u5c0e\u306e\u3082\u3068\u3067\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u30c1\u30e9\u30df\u30f3\u98df:<\/strong> MAO\u6d3b\u6027\u304c\u4f4e\u3044\u305f\u3081\u3001\u7279\u5b9a\u306e\u98df\u54c1\uff08\u30c1\u30fc\u30ba\u3001\u30ef\u30a4\u30f3\u3001\u30c1\u30e7\u30b3\u30ec\u30fc\u30c8\u306a\u3069\uff09\u306b\u542b\u307e\u308c\u308b\u300c\u30c1\u30e9\u30df\u30f3\u300d\u304c\u5206\u89e3\u3067\u304d\u305a\u3001\u8840\u5727\u4e0a\u6607\u3084\u982d\u75db\u3092\u62db\u304f\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u98df\u4e8b\u6307\u5c0e\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/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\u901a\u3058\u3066\u3001\u8eab\u4f53\u6a5f\u80fd\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u7dad\u6301\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong> \u8996\u899a\u969c\u5bb3\u304c\u3042\u308b\u305f\u3081\u3001\u97f3\u3084\u89e6\u899a\u3092\u30d5\u30eb\u306b\u6d3b\u7528\u3057\u305f\u5b66\u7fd2\u74b0\u5883\u3092\u6574\u3048\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> \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> \u8996\u899a\u969c\u5bb3\u3068\u77e5\u7684\u30fb\u884c\u52d5\u7684\u306a\u8ab2\u984c\u3092\u4f75\u305b\u6301\u3064\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u624b\u539a\u3044\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> \u8996\u899a\u969c\u5bb3\u8005\u652f\u63f4\u65bd\u8a2d\u3084\u3001\u884c\u52d5\u969c\u5bb3\u306b\u5bfe\u5fdc\u3057\u305f\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3092\u901a\u3058\u3066\u3001\u7a4f\u3084\u304b\u306a\u793e\u4f1a\u53c2\u52a0\u3092\u76ee\u6307\u3057\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>Xp11.3 deletion syndrome\uff08Xp11.3\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\u751f\u307e\u308c\u3064\u304d\u76ee\u304c\u898b\u3048\u306b\u304f\u3044\u3001\u3042\u308b\u3044\u306f\u898b\u3048\u306a\u3044\u3053\u3068\uff08\u30ce\u30fc\u30ea\u30fc\u75c5\uff09\u3001\u8a00\u8449\u3084\u77e5\u80fd\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u304f\u3001\u6025\u306b\u6012\u3063\u305f\u308a\u30d1\u30cb\u30c3\u30af\u306b\u306a\u3063\u305f\u308a\u3057\u3084\u3059\u3044\u3068\u3044\u3063\u305f\u70b9\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u8133\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3092\u6383\u9664\u3059\u308b\u6a5f\u80fd\u3084\u3001\u76ee\u306e\u7db2\u819c\u3092\u4f5c\u308b\u305f\u3081\u306e\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>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u8996\u899a\u306e\u30b5\u30dd\u30fc\u30c8\u3084\u3001\u611f\u60c5\u3092\u5b89\u5b9a\u3055\u305b\u308b\u305f\u3081\u306e\u30b1\u30a2\uff08\u304a\u85ac\u3084\u63a5\u3057\u65b9\u306e\u5de5\u592b\uff09\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u304c\u5b89\u5fc3\u3057\u3066\u904e\u3054\u305b\u308b\u74b0\u5883\u3092\u4f5c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u3084\u7642\u80b2\u30c1\u30fc\u30e0\u3001\u8996\u899a\u652f\u63f4\u306e\u5c02\u9580\u5bb6\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u7d20\u6674\u3089\u3057\u3044\u611f\u6027\u3092\u5927\u5207\u306b\u80b2\u3066\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>Brunner, H. G., et al.<\/strong> (1993). <em>Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.<\/em> Science.\n<ul class=\"wp-block-list\">\n<li>\uff08MAOA\u306e\u6b20\u640d\u304c\u7279\u7570\u7684\u306a\u884c\u52d5\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u89e3\u660e\u3057\u305f\u30d6\u30eb\u30f3\u30ca\u30fc\u75c7\u5019\u7fa4\u306e\u57fa\u790e\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Schuback, D. E., et al.<\/strong> (1996). <em>Deletions of the monoamine oxidase genes in patients with Norrie disease.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30ce\u30fc\u30ea\u30fc\u75c5\u306e\u60a3\u8005\u306b\u304a\u3044\u3066MAO\u907a\u4f1d\u5b50\u7fa4\u3082\u540c\u6642\u306b\u6b20\u5931\u3057\u3066\u3044\u308b\u75c7\u4f8b\u3092\u5831\u544a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Berger, W., et al.<\/strong> (1992). <em>Isolated retinitis pigmentosa caused by mutations in the gene for Norrie disease.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08NDP\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u3001\u305d\u306e\u6b20\u640d\u304c\u8996\u899a\u969c\u5bb3\u3092\u62db\u304f\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3064\u3044\u3066\u306e\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Norrie Disease<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08NDP\u907a\u4f1d\u5b50\u95a2\u9023\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u7ba1\u7406\u6307\u91dd\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>Xp11.3 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>Herrera, G. S., et al.<\/strong> (2015). <em>Clinical and molecular characterization of a microdeletion at Xp11.3.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xp11.3\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u4f8b\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\u306e\u8a18\u8ff0\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-17539","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\/17539","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\/17539\/revisions"}],"predecessor-version":[{"id":17541,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17539\/revisions\/17541"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17539"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}