{"id":83641,"date":"2024-11-15T16:07:58","date_gmt":"2024-11-15T07:07:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83641"},"modified":"2025-08-25T14:27:51","modified_gmt":"2025-08-25T05:27:51","slug":"xp11-22-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/","title":{"rendered":"Xp11.22 \u91cd\u8907\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u77ed\u8155\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u91cd\u8907\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u4e3b\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u767a\u9054\u9045\u5ef6\u3001\u9854\u9762\u7570\u5f62\u3001\u5185\u5206\u6ccc\u3084\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c\u306a\u3069\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u73fe\u5728\u3082\u75c7\u4f8b\u7814\u7a76\u3068\u907a\u4f1d\u7684\u89e3\u6790\u304c\u9032\u884c\u4e2d\u3067\u3042\u308a\u3001\u3055\u3089\u306a\u308b\u7406\u89e3\u3068\u6cbb\u7642\u6cd5\u306e\u767a\u898b\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3084\u75c7\u72b6\u306e\u8a73\u7d30\u3001\u7814\u7a76\u306e\u6700\u65b0\u52d5\u5411\u306b\u3064\u3044\u3066\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/xp11.22-hgtIdeo_genome_183de0_dc7400-1024x20.png\" alt=\"xp11.22 \" class=\"wp-image-90660\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/HUWE1-hgtIdeo_genome_181d32_dc7270-1024x20.png\" alt=\"HUWE1 \" class=\"wp-image-90663\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/#Xp1122%E5%BE%AE%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E6%A6%82%E8%A6%81\" >Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/#%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%A8X%E9%80%A3%E9%8E%96%E6%80%A7%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E8%83%8C%E6%99%AF\" >\u77e5\u7684\u969c\u5bb3\u3068X\u9023\u9396\u6027\u77e5\u7684\u969c\u5bb3\u306e\u80cc\u666f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/#Xp1122%E9%A0%98%E5%9F%9F%E3%81%A8%E9%96%A2%E9%80%A3%E9%81%BA%E4%BC%9D%E5%AD%90\" >Xp11.22\u9818\u57df\u3068\u95a2\u9023\u907a\u4f1d\u5b50<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/#%E7%97%87%E7%8A%B6%E3%81%AE%E5%A4%9A%E6%A7%98%E6%80%A7%E3%81%A8%E3%81%9D%E3%81%AE%E8%A6%81%E5%9B%A0\" >\u75c7\u72b6\u306e\u591a\u69d8\u6027\u3068\u305d\u306e\u8981\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/#%E9%81%BA%E4%BC%9D%E7%9A%84%E6%A7%8B%E9%80%A0%E3%81%AE%E7%89%B9%E6%80%A7%E3%81%A8%E3%81%9D%E3%81%AE%E5%BD%B1%E9%9F%BF\" >\u907a\u4f1d\u7684\u69cb\u9020\u306e\u7279\u6027\u3068\u305d\u306e\u5f71\u97ff<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E4%BB%8A%E5%BE%8C%E3%81%AE%E7%A0%94%E7%A9%B6%E3%81%AE%E5%B1%95%E6%9C%9B\" >\u8a3a\u65ad\u3068\u4eca\u5f8c\u306e\u7814\u7a76\u306e\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Xp1122%E5%BE%AE%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E6%A6%82%E8%A6%81\"><\/span>Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u77ed\u8155\uff08Xp\uff09\u306e\u7279\u5b9a\u9818\u57df\u3067\u767a\u751f\u3059\u308b\u907a\u4f1d\u5b50\u91cd\u8907\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306aX\u9023\u9396\u6027\u907a\u4f1d\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08Intellectual Disability, ID\uff09\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3001\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u3084\u75c7\u72b6\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u307e\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3053\u308c\u307e\u3067\u306e\u7814\u7a76\u306f\u5c11\u6570\u306e\u60a3\u8005\u4f8b\u3092\u57fa\u306b\u884c\u308f\u308c\u3066\u304a\u308a\u3001\u73fe\u5728\u3082\u75c7\u4f8b\u306e\u84c4\u7a4d\u3068\u907a\u4f1d\u7684\u89e3\u6790\u304c\u9032\u884c\u4e2d\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/xq22-3-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xq22.3 \u30c6\u30ed\u30e1\u30a2\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">CLDN2\u3001PRPS1\u3001COL4A5\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u3092\u89e3\u8aac\u3002\u81b5\u708e\u3001\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3001\u907a\u4f1d\u6027\u80f8\u90e8\u5927\u52d5\u8108\u75be\u60a3\u306a\u3069\u3001\u5404\u75be\u60a3\u306e\u7279\u5fb4\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%A8X%E9%80%A3%E9%8E%96%E6%80%A7%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E8%83%8C%E6%99%AF\"><\/span>\u77e5\u7684\u969c\u5bb3\u3068X\u9023\u9396\u6027\u77e5\u7684\u969c\u5bb3\u306e\u80cc\u666f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u767a\u9054\u304c\u5e74\u9f62\u76f8\u5fdc\u306b\u9054\u3057\u306a\u3044\u72b6\u614b\u3092\u6307\u3057\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u75c5\u614b\u3067\u3059\u3002\u4e16\u754c\u7684\u306a\u767a\u75c7\u7387\u306f\u5168\u4eba\u53e3\u306e2\uff5e85\/1,000\u306b\u306e\u307c\u308a\u3001\u5148\u9032\u56fd\u306b\u304a\u3044\u3066\u306f1\uff5e3%\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u539f\u56e0\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u91cd\u5ea6\u306e\u30b1\u30fc\u30b9\u3067\u306f20\uff5e25%\u3001\u8efd\u5ea6\u306e\u5834\u5408\u306f5\uff5e10%\u304c\u907a\u4f1d\u7684\u8981\u56e0\u306b\u8d77\u56e0\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u7537\u6027\u3067\u306f\u3001X\u67d3\u8272\u4f53\u306b\u95a2\u9023\u3057\u305f\u5f62\u614b\u3067\u3042\u308bX\u9023\u9396\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08X-linked Intellectual Disability, XLID\uff09\u304c\u591a\u304f\u898b\u3089\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u5168\u4f53\u306e5\uff5e10%\u3092\u5360\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Xp1122%E9%A0%98%E5%9F%9F%E3%81%A8%E9%96%A2%E9%80%A3%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>Xp11.22\u9818\u57df\u3068\u95a2\u9023\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Xp11.22\u9818\u57df\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u795e\u7d4c\u907a\u4f1d\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u304c\u591a\u304f\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u9818\u57df\u3067\u3059\u3002\u3053\u306e\u4e2d\u3067\u6700\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u306e\u304cHUWE1\u907a\u4f1d\u5b50\u3067\u3059\u3002HUWE1\u306fE3\u30e6\u30d3\u30ad\u30c1\u30f3\u30ea\u30ac\u30fc\u30bc\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u5206\u89e3\u3084\u8abf\u7bc0\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u304c\u78ba\u8a8d\u3055\u308c\u305f\u60a3\u8005\u3067\u306f\u3001\u975e\u75c7\u5019\u6027\uff08non-syndromic\uff09\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u4e3b\u306b\u898b\u3089\u308c\u308b\u4e00\u65b9\u3067\u3001\u767a\u4f5c\u3084\u8133\u6ce2\u7570\u5e38\u3001\u8a00\u8a9e\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3068\u3044\u3063\u305f\u75c7\u72b6\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u3053\u306e\u9818\u57df\u306b\u306fSHROOM4\u3001DGKK\u3001KDM5C\u3001IQSEC2\u306a\u3069\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u75c7\u5019\u7fa4\u6027\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002SHROOM4\u3084DGKK\u306e\u91cd\u8907\u306f\u3001\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u65e9\u767a\u601d\u6625\u671f\u3001\u4fbf\u79d8\u3001\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u30015\u672c\u76ee\u306e\u6307\u306e\u6e7e\u66f2\uff08clinodactyly\uff09\u306a\u3069\u3001\u3088\u308a\u8907\u96d1\u3067\u75c7\u5019\u7fa4\u7684\u306a\u7279\u5fb4\u306e\u767a\u73fe\u3068\u95a2\u9023\u4ed8\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E3%81%AE%E5%A4%9A%E6%A7%98%E6%80%A7%E3%81%A8%E3%81%9D%E3%81%AE%E8%A6%81%E5%9B%A0\"><\/span>\u75c7\u72b6\u306e\u591a\u69d8\u6027\u3068\u305d\u306e\u8981\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u3059\u308b\u907a\u4f1d\u5b50\u9818\u57df\u3084\u60a3\u8005\u56fa\u6709\u306e\u907a\u4f1d\u7684\u80cc\u666f\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5171\u901a\u3059\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><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>: \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\u7a0b\u5ea6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u5ef6<\/strong>: \u8a00\u8a9e\u8868\u73fe\u306e\u9045\u308c\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u7684\u7279\u5fb4<\/strong>: \u9854\u9762\u7570\u5f62\uff08dysmorphism\uff09\u3001\u77ed\u3044\u4eba\u4e2d\u3001\u9ad8\u304f\u72ed\u3044\u53e3\u84cb\u3001\u5927\u304d\u306a\u53e3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u304a\u3088\u3073\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c<\/strong>: \u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u65e9\u767a\u601d\u6625\u671f\u3001\u6162\u6027\u4fbf\u79d8\u306a\u3069\u304c\u983b\u7e41\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong>: \u767a\u4f5c\u3001\u8133\u6ce2\u7570\u5e38\u3001\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u904b\u52d5\u8010\u6027\u306e\u4f4e\u4e0b\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25617060_s.jpg\" alt=\"\u7247\u624b\u3067\u80a9\u307d\u3093\" class=\"wp-image-88173\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E7%9A%84%E6%A7%8B%E9%80%A0%E3%81%AE%E7%89%B9%E6%80%A7%E3%81%A8%E3%81%9D%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span>\u907a\u4f1d\u7684\u69cb\u9020\u306e\u7279\u6027\u3068\u305d\u306e\u5f71\u97ff<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Xp11.22\u9818\u57df\u306b\u306f\u907a\u4f1d\u5b50\u518d\u7de8\u6210\u3084\u8907\u88fd\u7570\u5e38\u304c\u767a\u751f\u3057\u3084\u3059\u3044\u69cb\u9020\u7684\u7279\u6027\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306f\u3001\u9577\u9396\u672b\u7aef\u53cd\u5fa9\u914d\u5217\uff08LTR\uff09\u306a\u3069\u306e\u518d\u7de8\u6210\u3092\u8a98\u767a\u3057\u3084\u3059\u3044\u914d\u5217\u8981\u7d20\u304c\u8c4a\u5bcc\u3067\u3042\u308a\u3001\u3053\u308c\u304c\u75be\u60a3\u767a\u75c7\u306e\u4e00\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u907a\u4f1d\u5b50\u306fX\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306e\u5f71\u97ff\u3092\u53d7\u3051\u306b\u304f\u3044\u6d3b\u6027\u5316\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u3082\u75c7\u72b6\u306e\u591a\u69d8\u6027\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/7p22-1-microduplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">7p22.1\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">7p22.1\u30de\u30a4\u30af\u30ed\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f537p22.1\u9818\u57df\u306e\u90e8\u5206\u91cd\u8907\u306b\u3088\u308b\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001RNF216\u3084ACTB\u306a\u3069\u306e\u907a\u4f1d\u5b50\u306e...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E4%BB%8A%E5%BE%8C%E3%81%AE%E7%A0%94%E7%A9%B6%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span>\u8a3a\u65ad\u3068\u4eca\u5f8c\u306e\u7814\u7a76\u306e\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u8a3a\u65ad\u6280\u8853\u3067\u306f\u3001\u60a3\u8005\u306e\u75c7\u4f8b\u3054\u3068\u306b\u91cd\u8907\u9818\u57df\u3092\u7279\u5b9a\u3057\u3001\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3084X\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u89e3\u6790\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u8a3a\u65ad\u65bd\u8a2d\u3067\u306e\u89e3\u6790\u80fd\u529b\u3084\u3053\u306e\u75be\u60a3\u306e\u5e0c\u5c11\u6027\u304b\u3089\u3001\u5168\u4f53\u50cf\u306e\u89e3\u660e\u306b\u306f\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>Xp11.22\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u7814\u7a76\u306f\u3001X\u67d3\u8272\u4f53\u77ed\u8155\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u8abf\u7bc0\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3084\u907a\u4f1d\u578b\u3068\u8868\u73fe\u578b\u306e\u95a2\u9023\u6027\u3092\u89e3\u660e\u3059\u308b\u9375\u3068\u306a\u308b\u3068\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u8907\u6570\u306e\u75c7\u4f8b\u3092\u4f53\u7cfb\u7684\u306b\u5206\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u3084\u4e88\u9632\u7b56\u306e\u958b\u767a\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u3055\u3089\u306a\u308b\u7814\u7a76\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u7406\u89e3\u3092\u6df1\u3081\u308b\u3068\u3068\u3082\u306b\u3001\u907a\u4f1d\u5b50\u8abf\u7bc0\u306e\u8907\u96d1\u306a\u4ed5\u7d44\u307f\u3092\u89e3\u304d\u660e\u304b\u3059\u4e00\u52a9\u3068\u306a\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1055\/s-0035-1566233\">Orivoli, S., Pavlidis, E., Cantalupo, G., Pezzella, M., Zara, F., Garavelli, L., Pisani, F., &amp; Piccolo, B. (2016). Xp11. 22 microduplications including huwe1: Case report and literature review. <em>Neuropediatrics<\/em>, <em>47<\/em>(1), 51\u201356. https:\/\/doi.org\/10.1055\/s-0035-1566233<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.37519\">Grams, S. E., Argiropoulos, B., Lines, M., Chakraborty, P., Mcgowan\u2010Jordan, J., Geraghty, M. T., Tsang, M., Eswara, M., Tezcan, K., Adams, K. L., Linck, L., Himes, P., Kostiner, D., Zand, D. J., Stalker, H., Driscoll, D. J., Huang, T., Rosenfeld, J. A., Li, X., &amp; Chen, E. (2016). Genotype\u2013phenotype characterization in 13 individuals with chromosome Xp11.22 duplications. <em>American Journal of Medical Genetics Part A<\/em>, <em>170<\/em>(4), 967\u2013977. https:\/\/doi.org\/10.1002\/ajmg.a.37519<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2021.635458\">Czak\u00f3, M., Till, \u00c1., Zima, J., Zsigmond, A., Szab\u00f3, A., Ma\u00e1sz, A., Melegh, B., &amp; Hadzsiev, K. (2021). Xp11. 2 duplication in females: Unique features of a rare copy number variation. <em>Frontiers in Genetics<\/em>, <em>12<\/em>, 635458. https:\/\/doi.org\/10.3389\/fgene.2021.635458<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104716\">Santos-Rebou\u00e7as, C. B., Boy, R., Fernandes, G. N. S., Gon\u00e7alves, A. P., Abdala, B. B., Gonzalez, L. G. C., Dos Santos, J. M., &amp; Pimentel, M. M. G. (2023). A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings. <em>European Journal of Medical Genetics<\/em>, <em>66<\/em>(4), 104716. https:\/\/doi.org\/10.1016\/j.ejmg.2023.104716<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081Xp11.22\u5fae\u91cd\u8907\u75c7\u5019&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87726,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,74,43,49],"class_list":["post-83641","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-duplication-syndrome","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83641","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83641"}],"version-history":[{"count":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83641\/revisions"}],"predecessor-version":[{"id":112210,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83641\/revisions\/112210"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87726"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83641"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83641"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83641"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}