{"id":17551,"date":"2026-01-22T06:54:52","date_gmt":"2026-01-22T06:54:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17551"},"modified":"2026-01-22T06:55:26","modified_gmt":"2026-01-22T06:55:26","slug":"xp22-31-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xp22-31-microdeletion-syndrome\/","title":{"rendered":"Xp22.31 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>Xp22.31\u5fae\u5c0f\u6b20\u5931<\/strong><\/li>\n\n\n\n<li><strong>X\u9023\u9396\u6027\u9b5a\u9c57\u766c\uff08Steroid Sulfatase Deficiency \/ X-linked ichthyosis: XLI\uff09<\/strong><\/li>\n\n\n\n<li><strong>STS\u6b20\u640d\u75c7<\/strong><\/li>\n\n\n\n<li><strong>Xp22.31\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\uff0922.31\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u77ed\u8155\u672b\u7aef\u90e8\uff08\u30c6\u30ed\u30e1\u30a2\u4ed8\u8fd1\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c22.31\u300d\u9818\u57df\u304c\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\u306f\u7d041.7Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u7a0b\u5ea6\u306e\u7bc4\u56f2\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7279\u5b9a\u306e\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>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306b\u304a\u3044\u3066\u3001\u81e8\u5e8a\u75c7\u72b6\u306b\u6700\u3082\u76f4\u63a5\u7684\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u306e\u304c\u300cSTS\u907a\u4f1d\u5b50\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>STS\u907a\u4f1d\u5b50 (Steroid Sulfatase):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u30b9\u30c6\u30ed\u30a4\u30c9\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u76ae\u819a\u306e\u89d2\u5c64\u306b\u304a\u3044\u3066\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u786b\u9178\u3092\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306b\u5909\u63db\u3057\u3001\u89d2\u8cea\u306e\u6b63\u5e38\u306a\u5265\u96e2\uff08\u30bf\u30fc\u30f3\u30aa\u30fc\u30d0\u30fc\uff09\u3092\u52a9\u3051\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u6b20\u5931\u306b\u3088\u308a\u3053\u306e\u9175\u7d20\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u89d2\u8cea\u304c\u7570\u5e38\u306b\u84c4\u7a4d\u3057\u3001\u76ae\u819a\u304c\u4e7e\u71e5\u3057\u3066\u9c57\u72b6\u306b\u306a\u308b\u300c<strong>X\u9023\u9396\u6027\u9b5a\u9c57\u766c\uff08XLI\uff09<\/strong>\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>VCX (Variable Charge X) \u907a\u4f1d\u5b50\u7fa4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u306e\u767a\u9054\u3001\u7279\u306b\u795e\u7d4c\u7d30\u80de\u306e\u5897\u6b96\u3084\u8a8d\u77e5\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u6b20\u5931\u7bc4\u56f2\u304c\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u307e\u3067\u53ca\u3076\u5834\u5408\u3001<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084<strong>\u767a\u9054\u9045\u6ede<\/strong>\u3001**\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09**\u306e\u5408\u4f75\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HDHD1\u907a\u4f1d\u5b50\uff08PUDP\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u507d\u30a6\u30ea\u30b8\u30f3\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u6b20\u5931\u306b\u3088\u308b\u76f4\u63a5\u7684\u306a\u75c5\u614b\u3078\u306e\u5bc4\u4e0e\u306f\u73fe\u5728\u3082\u7814\u7a76\u4e2d\u3067\u3059\u304c\u3001\u96a3\u63a5\u907a\u4f1d\u5b50\u3068\u3057\u3066\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\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 \u7d042,000\u4eba\u301c6,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u983b\u5ea6:<\/strong> \u67d3\u8272\u4f53\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u306e\u4e00\u3064\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\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u6027\uff08XY\uff09:<\/strong> 1\u672c\u3057\u304b\u306a\u3044X\u67d3\u8272\u4f53\u306eXp22.31\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u305f\u3081\u3001\u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u75c7\u72b6\uff08\u9b5a\u9c57\u766c\u3084\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\uff09\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\uff08XX\uff09:<\/strong> 2\u672c\u306eX\u67d3\u8272\u4f53\u306e\u3046\u30611\u672c\u306b\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u30461\u672c\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u901a\u5e38\u306f\u7121\u75c7\u72b6\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u51fa\u7523\u6642\u306e\u300c\u5fae\u5f31\u9663\u75db\uff08\u9077\u5ef6\u5206\u5a29\uff09\u300d\u3092\u7d4c\u9a13\u3059\u308b\u4fdd\u56e0\u5973\u6027\u304c\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\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>Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u76ae\u819a\u75c7\u72b6\u3001\u795e\u7d4c\u767a\u9054\u3001\u5185\u5206\u6ccc\u30fb\u751f\u6b96\u5668\u3001\u304a\u3088\u3073\u6bcd\u4f53\u306e\u598a\u5a20\u5408\u4f75\u75c7\u3068\u3044\u30464\u3064\u306e\u5927\u304d\u306a\u67f1\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u76ae\u819a\u75c7\u72b6\uff08X\u9023\u9396\u6027\u9b5a\u9c57\u766c\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e00\u822c\u7684\u304b\u3064\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u306e\u4e7e\u71e5\u3068\u9c57\u5c51\uff08\u308a\u3093\u305b\u3064\uff09:<\/strong> \u51fa\u751f\u6642\u3001\u3042\u308b\u3044\u306f\u4e73\u5150\u671f\u65e9\u671f\uff08\u751f\u5f8c\u6570\u30f6\u6708\u4ee5\u5185\uff09\u304b\u3089\u73fe\u308c\u307e\u3059\u3002\u5168\u8eab\uff08\u7279\u306b\u4f53\u5e79\u3001\u56db\u80a2\u306e\u5916\u5074\uff09\u306b\u6697\u8910\u8272\u307e\u305f\u306f\u7070\u8272\u306e\u300c\u9b5a\u306e\u9c57\u300d\u306e\u3088\u3046\u306a\u76ae\u819a\u306e\u5265\u304c\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c48\u66f2\u90e8\u306e\u56de\u907f:<\/strong> \u8098\u306e\u5185\u5074\u3084\u819d\u306e\u88cf\u306a\u3069\u306e\u76ae\u819a\u304c\u91cd\u306a\u308a\u5408\u3046\u90e8\u5206\u306f\u3001\u6e7f\u5ea6\u304c\u4fdd\u305f\u308c\u3084\u3059\u3044\u305f\u3081\u75c7\u72b6\u304c\u51fa\u306b\u304f\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b63\u7bc0\u5909\u52d5:<\/strong> \u590f\u5834\u306f\u6e7f\u5ea6\u306e\u5f71\u97ff\u3067\u6539\u5584\u3057\u3001\u4e7e\u71e5\u3059\u308b\u51ac\u5834\u306b\u60aa\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u3068\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u304cSTS\u907a\u4f1d\u5b50\u3092\u8d85\u3048\u3066\u5e83\u304c\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09:<\/strong> \u4e00\u822c\u7684\u306a\u983b\u5ea6\u3088\u308a\u3082\u9ad8\u304f\u3001ADHD\u7684\u7279\u6027\uff08\u4e0d\u6ce8\u610f\u3001\u591a\u52d5\u3001\u885d\u52d5\u6027\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong> \u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3055\u3084\u3053\u3060\u308f\u308a\u304c\u898b\u3089\u308c\u308b\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u3067\u306f\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3059\u304c\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u5b66\u7fd2\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u5206\u6ccc\u30fb\u751f\u6b96\u5668\u7cfb\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u505c\u7559\u7cbe\u5de3\uff08Cryptorchidism\uff09:<\/strong> \u7537\u5150\u306b\u304a\u3044\u3066\u7cbe\u5de3\u304c\u9670\u56a2\u5185\u306b\u964d\u308a\u3066\u3053\u306a\u3044\u72b6\u614b\u3002\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306e\u6700\u592725%\u306b\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u5de3\u816b\u760d\u306e\u30ea\u30b9\u30af:<\/strong> \u505c\u7559\u7cbe\u5de3\u306e\u65e2\u5f80\u304c\u3042\u308b\u5834\u5408\u3001\u5c06\u6765\u7684\u306a\u7cbe\u5de3\u816b\u760d\u306e\u30ea\u30b9\u30af\u304c\u308f\u305a\u304b\u306b\u4e0a\u6607\u3059\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7523\u79d1\u7684\u7279\u5fb4\uff08\u6bcd\u4f53\u3078\u306e\u5f71\u97ff\uff09<\/strong><\/p>\n\n\n\n<p>\u80ce\u5150\u304cXp22.31\u5fae\u5c0f\u6b20\u5931\uff08STS\u6b20\u640d\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u80ce\u76e4\u306b\u304a\u3051\u308b\u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\u5408\u6210\u304c\u4e0d\u5341\u5206\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9077\u5ef6\u5206\u5a29\uff08\u5fae\u5f31\u9663\u75db\uff09:<\/strong> \u304a\u7523\u304c\u59cb\u307e\u3063\u3066\u3082\u9663\u75db\u304c\u5f37\u304f\u306a\u3089\u305a\u3001\u5206\u5a29\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u9032\u307e\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u5e1d\u738b\u5207\u958b\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c\u6bd4\u8f03\u7684\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bcd\u4f53\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u7570\u5e38:<\/strong> \u598a\u5a20\u4e2d\u306e\u691c\u67fb\uff08\u30af\u30a2\u30c8\u30ed\u30c6\u30b9\u30c8\u7b49\uff09\u3067\u300c\u30a8\u30b9\u30c6\u30ed\u30fc\u30eb\uff08uE3\uff09\u300d\u306e\u5024\u304c\u7570\u5e38\u306b\u4f4e\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u304c\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308b\u3053\u3068\u3082\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>Xp22.31\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u907a\u4f1d\u5b50\u91cf\u4e0d\u5747\u8861\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306eDNA\u914d\u5217\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u4f53\u5185\u3067\u5fc5\u8981\u306a\u9175\u7d20\uff08\u30b9\u30c6\u30ed\u30a4\u30c9\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\uff09\u304c\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u3001\u3042\u308b\u3044\u306f\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u53cd\u5fa9\u914d\u5217\u306b\u3088\u308b\u7d44\u307f\u63db\u3048\u30df\u30b9:<br>Xp21.31\u9818\u57df\u306e\u5468\u8fba\u306b\u306f\u300cLCR\uff08\u4f4e\u30b3\u30d4\u30fc\u6570\u53cd\u5fa9\u914d\u5217\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u4f3c\u305f\u3088\u3046\u306a\u914d\u5217\u304c\u591a\u304f\u5b58\u5728\u3057\u307e\u3059\u3002\u7d30\u80de\u5206\u88c2\u306e\u969b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u7d44\u307f\u63db\u308f\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3001\u305d\u306e\u9593\u306e\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u308b\uff08\u6b20\u5931\u3059\u308b\uff09\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09:<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\u6b20\u5931\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\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\u5931\u3057\u305fX\u67d3\u8272\u4f53\u304c\u606f\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\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\u75c7\u72b6\uff08\u76ae\u819a\u306e\u4e7e\u71e5\uff09\u304b\u3089\u7591\u308f\u308c\u3001\u6700\u7d42\u7684\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\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\u3002Xp22.31\u9818\u57df\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3001\u3069\u306e\u907a\u4f1d\u5b50\u3092\u5dfb\u304d\u8fbc\u3093\u3067\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001Xp22.31\u9818\u57df\uff08STS\u907a\u4f1d\u5b50\u9818\u57df\uff09\u304c\u6d88\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>MLPA\u6cd5:<br>STS\u907a\u4f1d\u5b50\u5185\u306e\u5fae\u5c0f\u306a\u6b20\u640d\u3092\u691c\u51fa\u3059\u308b\u306e\u306b\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u751f\u5316\u5b66\u7684\u691c\u67fb\uff08\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\uff09:<br>\u76ae\u819a\u306e\u7dda\u7dad\u82bd\u7d30\u80de\u3084\u767d\u8840\u7403\u3092\u7528\u3044\u3066\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\uff08STS\uff09\u6d3b\u6027\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80ce\u5150\u8a3a\u65ad:<br>\u598a\u5a20\u4e2d\u306euE3\u4f4e\u5024\u3084\u3001\u51fa\u751f\u524d\u8a3a\u65ad\uff08\u7f8a\u6c34\u691c\u67fb\u3084\u7d68\u6bdb\u691c\u67fb\uff09\u306b\u3088\u3063\u3066\u898b\u3064\u304b\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>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u4fee\u5fa9\u306f\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u5bfe\u75c7\u7642\u6cd5\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u3067\u826f\u597d\u306a\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u7dad\u6301\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u76ae\u819a\u79d1\u7684\u30b1\u30a2\uff08\u65e5\u5e38\u306e\u7ba1\u7406\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4fdd\u6e7f\u5264\uff08\u30a8\u30e2\u30ea\u30a8\u30f3\u30c8\uff09\u306e\u5857\u5e03:<\/strong> \u5c3f\u7d20\u914d\u5408\u30af\u30ea\u30fc\u30e0\u3001\u30ef\u30bb\u30ea\u30f3\u3001\u30d8\u30d1\u30ea\u30f3\u985e\u4f3c\u7269\u8cea\u306a\u3069\u3092\u7528\u3044\u3066\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u6a5f\u80fd\u3092\u88dc\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89d2\u8cea\u5265\u96e2\u5264:<\/strong> \u30b5\u30ea\u30c1\u30eb\u9178\u3084\u4e73\u9178\u914d\u5408\u306e\u88fd\u5264\u3092\u7528\u3044\u3066\u3001\u904e\u5270\u306a\u89d2\u8cea\u3092\u512a\u3057\u304f\u53d6\u308a\u9664\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5165\u6d74\u306e\u5de5\u592b:<\/strong> \u9577\u6e6f\u3084\u71b1\u3059\u304e\u308b\u304a\u6e6f\u3092\u907f\u3051\u3001\u6d17\u6d44\u529b\u306e\u5f37\u3059\u304e\u306a\u3044\u77f3\u9e78\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u5165\u6d74\u76f4\u5f8c\u306e\u4fdd\u6e7f\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong> ADHD\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\uff08\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\uff09\u3092\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u6821\u74b0\u5883\u306e\u8abf\u6574:<\/strong> \u5b66\u7fd2\u969c\u5bb3\u3084\u4e0d\u6ce8\u610f\u50be\u5411\u306b\u5bfe\u3057\u3001\u500b\u5225\u306e\u5b66\u7fd2\u8a08\u753b\u3084\u74b0\u5883\u8abf\u6574\uff08\u9759\u304b\u306a\u74b0\u5883\u3067\u306e\u5b66\u7fd2\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5916\u79d1\u7684\u30fb\u5c02\u9580\u7684\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u505c\u7559\u7cbe\u5de3\u306e\u624b\u8853:<\/strong> \u505c\u7559\u7cbe\u5de3\u304c\u3042\u308b\u5834\u5408\u3001\u9069\u5207\u306a\u6642\u671f\uff08\u901a\u5e381\u6b73\u524d\u5f8c\uff09\u306b\u7cbe\u5de3\u56fa\u5b9a\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u691c\u67fb:<\/strong> \u7a00\u306b\u89d2\u819c\u306e\u6df7\u6fc1\uff08\u8996\u529b\u306b\u306f\u5f71\u97ff\u3057\u306a\u3044\u3053\u3068\u304c\u591a\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u4e00\u5ea6\u306f\u773c\u79d1\u53d7\u8a3a\u304c\u63a8\u5968\u3055\u308c\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> \u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u5185\u81d3\u306a\u3069\u306e\u91cd\u7be4\u306a\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u6975\u3081\u3066\u7a00\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u76ae\u819a\u306e\u4e7e\u71e5\u7ba1\u7406\u3092\u7fd2\u6163\u5316\u3059\u308b\u3053\u3068\u3067\u3001\u5b66\u696d\u3084\u793e\u4f1a\u751f\u6d3b\u306b\u652f\u969c\u306a\u304f\u904e\u3054\u305b\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u52a0\u9f62\u306b\u4f34\u3046\u5909\u5316:<\/strong> \u76ae\u819a\u306e\u75c7\u72b6\u306f\u6210\u4eba\u306b\u306a\u3063\u3066\u3082\u7d9a\u304d\u307e\u3059\u304c\u3001\u7ba1\u7406\u65b9\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u308c\u3070\u3001\u751f\u6d3b\u4e0a\u306e\u5927\u304d\u306a\u5236\u9650\u306b\u306f\u306a\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Xp22.31 microdeletion syndrome\uff08Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u3042\u308b\u300cSTS\uff08\u30b9\u30c6\u30ed\u30a4\u30c9\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\uff09\u300d\u3068\u3044\u3046\u3001\u76ae\u819a\u3092\u5065\u3084\u304b\u306b\u4fdd\u3064\u305f\u3081\u306e\u5927\u5207\u306a\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u304c\u5931\u308f\u308c\u3066\u3057\u307e\u3046\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u304b\u3089\u898b\u3089\u308c\u308b\u76ae\u819a\u306e\u4e7e\u71e5\u3084\u3001\u9b5a\u306e\u9c57\u306e\u3088\u3046\u306a\u30ab\u30b5\u3064\u304d\uff08\u9b5a\u9c57\u766c\uff09\u3067\u3059\u3002\u307e\u305f\u3001\u5143\u6c17\u3059\u304e\u3066\u843d\u3061\u7740\u304d\u304c\u306a\u304b\u3063\u305f\u308a\uff08ADHD\u50be\u5411\uff09\u3001\u7537\u306e\u5b50\u306e\u5834\u5408\u306f\u7cbe\u5de3\u306e\u75c5\u6c17\u304c\u898b\u3064\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u6bcd\u69d8\u306e\u598a\u5a20\u4e2d\u306b\u3001\u9663\u75db\u304c\u306a\u304b\u306a\u304b\u9032\u307e\u306a\u304b\u3063\u305f\u3068\u3044\u3046\u30a8\u30d4\u30bd\u30fc\u30c9\u304c\u304d\u3063\u304b\u3051\u3067\u8a3a\u65ad\u306b\u7e4b\u304c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u306e\u4e7e\u71e5\u306f\u304a\u85ac\u3084\u65e5\u3005\u306e\u30b1\u30a2\u3067\u4e0a\u624b\u306b\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3084\u767a\u9054\u306e\u60a9\u307f\u306b\u3064\u3044\u3066\u3082\u3001\u5c02\u9580\u306e\u5148\u751f\u3068\u5354\u529b\u3057\u3066\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u500b\u6027\u3092\u4f38\u3070\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u547d\u306b\u95a2\u308f\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u9069\u5207\u306a\u30b1\u30a2\u306b\u3088\u3063\u3066\u3001\u4ed6\u306e\u304a\u5b50\u69d8\u3068\u540c\u3058\u3088\u3046\u306b\u5143\u6c17\u306b\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u308b\u75c5\u6c17\u3067\u3059\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>Ballabio, A., et al.<\/strong> (1989). <em>Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xp22.31\u9818\u57df\u306e\u6b20\u5931\u304c\u8907\u6570\u306e\u75be\u60a3\u3092\u62db\u304f\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u5148\u99c6\u7684\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Valdes-Flores, M., et al.<\/strong> (2001). <em>Clinical and molecular studies of patients with X-linked ichthyosis.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08X\u9023\u9396\u6027\u9b5a\u9c57\u766c\u3068Xp22.31\u6b20\u5931\u306e\u81e8\u5e8a\u76f8\u95a2\u3092\u8a73\u7d30\u306b\u307e\u3068\u3081\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kent, L., et al.<\/strong> (2008). <em>Attention-deficit hyperactivity disorder (ADHD) and neuropsychological profile in males with X-linked ichthyosis and adjacent gene deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08Xp22.31\u6b20\u5931\u306b\u4f34\u3046ADHD\u3084\u795e\u7d4c\u5fc3\u7406\u5b66\u7684\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3092\u5206\u6790\u3057\u305f\u91cd\u8981\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>X-Linked Ichthyosis<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08STS\u6b20\u640d\u75c7\u304a\u3088\u3073Xp22.31\u6b20\u5931\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>Xp22.31 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>Van Esch, H.<\/strong> (2012). <em>The molecular genetics of X-linked intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08X\u9023\u9396\u77e5\u7684\u969c\u5bb3\u306b\u304a\u3051\u308bXp22.31\u5fae\u5c0f\u6b20\u5931\u306e\u4f4d\u7f6e\u3065\u3051\u3092\u8ad6\u3058\u305f\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17551","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\/17551","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\/17551\/revisions"}],"predecessor-version":[{"id":17555,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17551\/revisions\/17555"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17551"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}