{"id":18180,"date":"2021-10-15T10:27:54","date_gmt":"2021-10-15T01:27:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=18180"},"modified":"2025-08-11T14:29:16","modified_gmt":"2025-08-11T05:29:16","slug":"7q21-3-q-31-1-duplication","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/","title":{"rendered":"\u7d14\u7c8b\u306a\u9593\u8cea\u60277q21.3-q 31.1\u91cd\u8907: \u307e\u308c\u306a\u5206\u7bc0\u6027\u30b2\u30ce\u30e0\u7570\u6570\u6027: \u75c7\u4f8b\u5831\u544a\u3068\u9060\u4f4d\u304a\u3088\u3073\u985e\u4f3c\u306e\u5206\u7bc0\u304c\u95a2\u4e0e\u3057\u305f\u75c7\u4f8b\u306e\u30ec\u30d3\u30e5\u30fc"},"content":{"rendered":"\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<p>\u30a2\u30ec\u30c3\u30b5\u30f3\u30c9\u30e9\u30fb\u30c7\u30a3\u30fb\u30ce\u30fc\u30e9<sup>1<\/sup>\u3001 \u30b8\u30a7\u30eb\u30de\u30fc\u30ca\u30fb\u30ec\u30ca<sup>1<\/sup>\u3001 \u30a2\u30f3\u30c9\u30ec\u30a2\u30fb\u30b8\u30e5\u30fc\u30f3<sup>1<\/sup>\u3001 \u30a2\u30ec\u30c3\u30b7\u30a2\u30fb\u30c7\u30a3\u30fb\u30de\u30ea<sup>2<\/sup>\u3001 \u30d4\u30a8\u30eb\u30a4\u30b8\u30fb\u30b9\u30df\u30e9\u30ea<sup>3<\/sup>\u3001 \u30ab\u30eb\u30e1\u30ed\u30fb\u30df\u30ca\u30fc\u30c7\u30a3<sup>4<\/sup>\u3001 \u30d4\u30a8\u30ed\u30fb\u30d1\u30f4\u30a9\u30fc\u30cd<sup>3<\/sup><\/p>\n\n\n\n<p><sup>1<\/sup>\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u3001\u30a4\u30bf\u30ea\u30a2\u3001\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u3001\u5c0f\u5150\u79d1\u3001\u9662\u5f8c\u7814\u4fee\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u81e8\u5e8a\u30fb\u5b9f\u9a13\u533b\u5b66\u90e8<br><sup>2<\/sup>\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u3001\u30a4\u30bf\u30ea\u30a2\u3001\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u653e\u5c04\u7dda\u5b66\u90e8\u3001\u5927\u5b66\u9662\u5f8c\u7814\u4fee\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u653e\u5c04\u7dda\u79d1<br><sup>3<\/sup>\u30a4\u30bf\u30ea\u30a2\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u5c0f\u5150\u795e\u7d4c\u5185\u79d1<br><sup>4<\/sup>\u30a4\u30bf\u30ea\u30a2\u3001\u30ab\u30bf\u30cb\u30a2\u306e\u5927\u5b66\u75c5\u9662\u300cG. Rodolico\u300d\u9ebb\u9154\u30fb\u96c6\u4e2d\u6cbb\u7642\u90e8<\/p>\n\n\n\n<p>\u30b0\u30ed\u30fc\u30d0\u30eb\u30fb\u30e1\u30c3\u30c9\u30fb\u30b8\u30a7\u30cd\u30c3\u30c8<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><strong>\u901a\u4fe1\u5b9b\u5148<\/strong><br>Alessandra Di Nora\u533b\u5e2b\u3001\u75c5\u9662\u30dd\u30ea\u30af\u30ea\u30cb\u30c3\u30af\u3001SanoMarco\u3001\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u3001Via S. Sofia 78\u300195123 Catania\u3001\u30a4\u30bf\u30ea\u30a2<br>(\u96fb\u5b50\u30e1\u30fc\u30eb: alessandradinora@gmail.com)<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\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-3'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#%E8%A6%81%E7%B4%84\" >\u8981\u7d04<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" >\u306f\u3058\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#%E7%97%87%E4%BE%8B%E6%8F%90%E7%A4%BA\" >\u75c7\u4f8b\u63d0\u793a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#%E7%B5%90%E6%9E%9C\" >\u7d50\u679c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%81%E7%B4%84\"><\/span>\u8981\u7d04<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u9045\u6ede\u304a\u3088\u3073\u795e\u7d4c\u5b66\u7684\u969c\u5bb3\u306e\u3042\u308b\u5c0f\u5150\u3067\u306f\u3001\u8a3a\u65ad\u306f\u5e45\u5e83\u3044\u539f\u56e0\u306e\u305f\u3081\u56f0\u96e3\u3067\u3042\u308b\u3002 \u904e\u53bb10\u5e74\u9593\u304b\u3089\u3001\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3(CGH)\u306e\u4f7f\u7528\u306f\u3001\u8907\u96d1\u306a\u8868\u73fe\u578b\u306e\u8a3a\u65ad\u3092\u5f97\u308b\u305f\u3081\u306b\u5927\u304d\u306a\u8ca2\u732e\u3092\u63d0\u4f9b\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">&nbsp;7\u756a\u67d3\u8272\u4f53\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u3001\u518d\u914d\u5217\u3001\u304a\u3088\u3073\u81e8\u5e8a\u75c7\u72b6\u3092\u542b\u3080\u6b20\u5931\u3068\u983b\u7e41\u306b\u95a2\u9023\u3059\u308b<\/a>\u305f\u3081\u3001\u533b\u5b66\u907a\u4f1d\u5b66\u306b\u95a2\u5fc3\u304c\u96c6\u307e\u3063\u3066\u3044\u308b\u3002\u672c\u7a3f\u3067\u306f\u3001\u91cd\u5ea6\u306e\u795e\u7d4c\u767a\u9054\u9045\u6ede\u3001\u982d\u84cb\u9854\u9762\u7570\u578b\u3001\u304a\u3088\u3073\u80ba\u72ed\u7a84\u3092\u6709\u3059\u308b3\u6b73\u7537\u5150\u3092\u5831\u544a\u3059\u308b\u3002\u3053\u306e\u30a2\u30ec\u30a4CGH\u89e3\u6790\u306f\u30017\u756a\u67d3\u8272\u4f53\u4e0a\u306e14.4Mb(7q21.3\uff5e7q31.1)\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u3002 \u73fe\u5728\u307e\u3067\u306e\u6587\u732e\u3092\u30ec\u30d3\u30e5\u30fc\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u8457\u8005\u3089\u306f\u3001\u4ee5\u524d\u306b\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u304b\u3063\u305f\u3053\u306e\u518d\u914d\u5217\u306b\u95a2\u9023\u3059\u308b\u795e\u7d4c\u5b66\u7684\u304a\u3088\u3073\u7570\u5f62\u5947\u5f62\u306b\u3064\u3044\u3066\u521d\u3081\u3066\u5831\u544a\u3057\u305f\u3002<\/p>\n\n\n\n<p><strong>\u30ad\u30fc\u30ef\u30fc\u30c9<\/strong><br> 7q21.3-q31.1\u3001\u76f4\u5217CGH\u3001\u767a\u751f\u9045\u5ef6\u3001\u9854\u306e\u7279\u5fb4\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a><\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span>\u306f\u3058\u3081\u306b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u9577\u8155(q)\u304c\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b\u500b\u4f53\u306f\u7a00\u306b\u3057\u304b\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u3044\u3002\u5b64\u7acb\u3057\u305f \u201c\u7d14\u7c8b\u306a \u201c7q\u578b\u306f\u3001\u9577\u8155\u5168\u4f53\u3001\u3042\u308b\u3044\u306f\u67d3\u8272\u4f53\u30bb\u30b0\u30e1\u30f3\u30c8\u306e\u9593\u8cea\u90e8\u3001\u8fd1\u4f4d\u90e8\u3001\u9060\u4f4d\u90e8\u306e\u3044\u305a\u308c\u304b\u306b\u95a2\u4e0e\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306b\u3088\u3063\u3066\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference01\">1<\/a>,<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference02\">2<\/a>,<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference18\">18<\/a><\/sup>&nbsp;Novales\u3089<sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference14\">14<\/a><\/sup>\u306f\u30017q\u67d3\u8272\u4f53\u306e\u30bb\u30b0\u30e1\u30f3\u30c8\u306b\u5fdc\u3058\u3066\u7f79\u60a3\u8005\u3092\u533a\u5225\u3057\u3001\u6b21\u306e\u3088\u3046\u306a\u7d50\u679c\u3092\u5f97\u307e\u3057\u305f\u30027q22\u304b\u30897q31\u306e\u9593\u8cea\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u8005\u306f\u3001\u524d\u982d\u9686\u8d77\u3001\u9577\u3044\u776b\u6bdb\u3001\u72ed\u3044\u53e3\u84cb\u88c2\u3001\u7709\u6bdb\u3001\u591a\u6bdb\u3001\u5c0f\u3055\u3044\u9f3b\u3001\u9577\u3044\u4e0a\u5507\u3001\u773c\u7403\u969c\u5bb3\u304b\u3089\u306a\u308b\u9854\u306e\u7279\u5fb4\u3092\u793a\u3057\u3001\u9aa8\u683c\u7570\u5e38\u3001\u53e3\u84cb\u88c2\u3001\u65e9\u6b7b\u306b\u3092\u4f34\u308f\u306a\u3044\u30027q31\u304b\u30897qter\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u8005\u306f\u3001\u767a\u9054\u9045\u5ef6\u3092\u793a\u3057\u3001\u9854\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u5927\u304d\u306a\u30d5\u30a9\u30f3\u30c8\u30a2\u30cd\u30eb\u3001\u72ed\u3044\u53e3\u84cb\u88c2\u3001\u591a\u6bdb\u3001\u5c0f\u3055\u3044\u9f3b\u3001\u53e3\u84cb\u88c2\u3001\u5c0f\u984e\u75c7\u3001\u4f4e\u4f4d\u7f6e\u3067\u5947\u5f62\u306e\u8033\u306a\u3069\u304c\u3042\u308a\u3001\u3055\u3089\u306b\u3001\u9aa8\u683c\u306e\u7570\u5e38\u3068\u65e9\u671f\u6b7b\u4ea1\u3082\u8a18\u9332\u3055\u308c\u305f\u30027q32\u304b\u30897ter\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u5c0f\u3055\u3044\u9f3b\u3001\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308b\u8033\u3092\u7279\u5fb4\u3068\u3057\u3001\u5c0f\u984e\u75c7\u3084\u53e3\u84cb\u88c2\u306f\u306a\u304f\u3001\u9aa8\u683c\u306e\u7570\u5e38\u3001\u795e\u7d4c\u75c7\u72b6\u3001\u65e9\u671f\u6b7b\u4ea1\u304c\u898b\u3089\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u8ad6\u6587\u3067\u306f\uff0c7\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u304c7q21.3\u304b\u3089q31.1\u307e\u306714.4Mb\u306b\u308f\u305f\u3063\u3066\u7d14\u7c8b\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b3\u6b73\u306e\u7537\u5150\u3092\u5831\u544a\u3057\u305f\u3002\u672c\u75c7\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u305f\u81e8\u5e8a\u75c7\u72b6\u3092\u5831\u544a\u3057\uff0c\u9060\u4f4d\u306e\u30bb\u30b0\u30e1\u30f3\u30c8\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u5b50\u4f9b\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u6bd4\u8f03\u3057\uff0c\u3055\u3089\u306b\u9593\u8cea\u6027\u306e7\u756a\u67d3\u8272\u4f53\u30bb\u30b0\u30e1\u30f3\u30c8\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u5b50\u4f9b\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u6bd4\u8f03\u3057\u3066\uff0c\u7f79\u60a3\u3057\u305f\u5404\u30bb\u30b0\u30e1\u30f3\u30c8\u306b\u7279\u7570\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\u306e\u53ef\u80fd\u6027\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u308b\u3002<\/p>\n<\/div><\/div>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E4%BE%8B%E6%8F%90%E7%A4%BA\"><\/span>\u75c7\u4f8b\u63d0\u793a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e3\u6b73\u306e\u7537\u6027\u60a3\u8005\u306f\u3001\u5065\u5eb7\u3067\u3001\u8840\u7e01\u95a2\u4fc2\u306e\u306a\u3044\u30a4\u30bf\u30ea\u30a2\u4eba\u306e\u4e21\u89aa\u306e3\u756a\u76ee\u306e\u5b50\u4f9b\u3067\u3042\u308b\u3002 2\u4eba\u306e\u5144\u5f1f\u59c9\u59b9(5\u6b73\u59c9\u59b9\u30017\u6b73\u5144\u5f1f)\u306f\u5065\u5eb7\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u6027\u75be\u60a3<\/a>\u306e\u5bb6\u65cf\u6b74\u306f\u306a\u3044\u3002 \u598a\u5a20\u6642,\u6bcd\u306f32\u6b73,\u7236\u306f35\u6b73\u3067\u3042\u3063\u305f\u3002 \u6bcd\u89aa\u306f\u598a\u5a20\u4e2d\u306b\u611f\u67d3\u75c7\u306b\u304b\u304b\u3063\u305f\u3053\u3068\u3092\u5426\u5b9a\u3057\u3001\u30bf\u30d0\u30b3\u3092\u5438\u3063\u305f\u308a\u3001\u598a\u5a20\u4e2d\u306b\u85ac\u3092\u98f2\u3093\u3060\u3053\u3068\u304c\u306a\u3044\u3002 \u5b50\u5bae\u5185\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f7\u304b\u6708\u307e\u3067\u306b\u767a\u80b2\u6027\u72ed\u7a84\u3092\u793a\u3057\u3001\u6bcd\u89aa\u306f\u80ce\u52d5\u304c\u6e1b\u5c11\u3057\u305f\u3053\u3068\u3092\u8a8d\u3081\u305f\u3002 \u5b50\u4f9b\u306f\u598a\u5a2039\u9031\u306b\u9aa8\u76e4\u4f4d\u306e\u305f\u3081\u5e1d\u738b\u5207\u958b\u306b\u3088\u308a\u51fa\u7523\u3057\u305f\u3002 \u51fa\u751f\u6642\u4f53\u91cd\u306f2,350g(3\u756a\u76ee\u306e\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3001\u9577\u305548cm(10\u756a\u76ee\u306e\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3001\u5f8c\u982d\u524d\u982d\u5468\u56f2(OFC)33cm(3\u756a\u76ee\u306e\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3067\u3042\u3063\u305f\u3002 \u751f\u5f8c2\u65e5\u76ee\u306b\u3001\u5c0f\u5150\u306f\u547c\u5438\u7aae\u8feb\u306b\u82e6\u3057\u307f\u3001\u6cbb\u7642\u304a\u3088\u3073\u691c\u67fb\u306e\u305f\u3081\u306b\u30a4\u30bf\u30ea\u30a2\u3001\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u5c0f\u5150\u30af\u30ea\u30cb\u30c3\u30af\u306e\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u5ba4\u306b\u5165\u9662\u3057\u305f\u3002<br>\u982d\u90e8\u8d85\u97f3\u6ce2\u306f\u8133\u5ba4\u5468\u56f2\u767d\u8cea\u306e\u8efd\u5ea6\u306e\u4f4e\u5bc6\u5ea6\u3092\u793a\u3057\u305f\u3002 \u5fc3\u30a8\u30b3\u30fc\u306f\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u3092\u4f34\u3046\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u3092\u793a\u3057\u305f\u3002 \u751f\u5f8c10\u65e5\u76ee\u3001\u60a3\u8005\u306f\u901f\u3084\u304b\u306a\u5fc3\u81d3\u30a4\u30f3\u30bf\u30fc\u30d9\u30f3\u30b7\u30e7\u30f3\u306e\u9069\u5fdc\u306a\u3057\u306b\u826f\u597d\u306a\u72b6\u614b\u3067\u9000\u9662\u3057\u305f\u3002 \u6700\u521d\u306e1\u304b\u6708\u306e\u9593\u3001\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u4e3b\u306b\u8efd\u5fae\u306a\u9854\u9762\u306e\u7279\u5fb4\u3068\u3001\u7279\u306b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u95a2\u3059\u308b\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306e\u9045\u308c\u306b\u3088\u3063\u3066\u7279\u5fb4\u3065\u3051\u3089\u308c\u305f\u3002 2.5\u6b73\u6642\u3001\u5c0f\u5150\u306f\u767a\u9054\u9045\u6ede\u304a\u3088\u3073\u982d\u84cb\u9854\u9762\u5947\u5f62\u306b\u3088\u308b\u691c\u8a3a\u306e\u305f\u3081\u30a4\u30bf\u30ea\u30a2\u306e\u30ab\u30bf\u30cb\u30a2\u5927\u5b66\u5c0f\u5150\u79d1\u306b\u5165\u9662\u3057\u305f\u3002 \u3053\u306e\u5e74\u9f62\u3067\u306f\u3001\u4f53\u91cd\u306f12kg(10\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3001\u9577\u305588cm(10\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3001OFC 47cm(3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3067\u3042\u3063\u305f\u3002 \u300c\u5f62\u614b\u5b66\u7684\u8981\u7d20:\u6a19\u6e96\u7528\u8a9e:Am J Med Genet 2009, 149A (1): 1-127\u300d\u306b\u3088\u308c\u3070\u3001\u5c0f\u982d\u75c7\u3001\u30bf\u30fc\u30eb\u8133\u75c7\u3001\u9855\u8457\u306a\u524d\u982d\u9686\u8d77\u3001\u5185\u5074\u90e8\u3067\u5243\u6bdb\u3057\u305f\u5f13\u72b6\u306e\u7709\u3001\u5185\u5074\u4e0a\u89d2\u306e\u3072\u3060\u3001\u4e0b\u5411\u304d\u306e\u773c\u77bc\u88c2\u3001\u5e73\u5766\u306a\u9f3b\u6a4b\u3001\u4e38\u3044\u5148\u7aef\u3068\u524d\u50be\u3057\u305f\u9f3b\u5b54\u3092\u6709\u3059\u308b\u9f3b\u306e\u8584\u3044\u3001\u5e73\u5766\u306a\u30d5\u30a3\u30eb\u30bf\u30fc\u3001\u8584\u3044\u53e3\u5507\u3001\u56de\u8ee2\u8ef8\u3092\u6709\u3059\u308b\u4f4e\u4f4d\u306e\u57cb\u3081\u8fbc\u307f\u8033\u3001\u304a\u3088\u3073\u7d30\u3044\u6bdb\u9aea\u304b\u3089\u306a\u308b\u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\u3092\u793a\u3057\u305f\u3002<br>\u7b4b\u8089\u816b\u306f\u4f4e\u7dca\u5f35\u6027\u3067\u3001\u76ae\u4e0b\u7d44\u7e54\u306f\u4e0d\u826f\u3067\u3042\u3063\u305f\u3002 \u60a3\u8005\u306f\u3001\u8db3\u9996\u5f01\u72ed\u7a84\u3001\u95a2\u7bc0\u62d8\u7e2e\u306b\u304a\u3051\u308b\u819d\u3001\u30ad\u30fc\u30eb\u80f8\u3001\u80a9\u7532\u7ffc\u3001\u624b\u95a2\u7bc0\u5f1b\u7de9\u3001\u304a\u3088\u3073\u8179\u76f4\u7b4b\u30b8\u30a2\u30b9\u30c6\u30fc\u30b7\u30b9\u3092\u793a\u3057\u305f\u3002\u767a\u9054\u9045\u6ede\u304c\u51fa\u5e2d\u3057\u3001\u975e\u5e38\u306b\u91cd\u3044\u8a00\u8449\u3092\u767a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002 \u6b69\u884c\u306f\u4e0d\u5b89\u5b9a\u3060\u3063\u305f\u3002 \u819d\u84cb\u9aa8\u9aa8\u9aa8\u6027\u9aa8\u58ca\u6b7b\u53cd\u5c04\u6d88\u5931\u306f\u4e0d\u9069\u683c\u3002 \u53ce\u7e2e\u671f\u30de\u30a6\u30b92\/6 Levine\u306f\u9855\u8457\u3067\u3042\u308a\u3001\u5fc3\u30a8\u30b3\u30fc\u306f\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u3092\u4f34\u3046\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u306e\u5b58\u5728\u3092\u78ba\u8a8d\u3057\u305f\u3002 \u30eb\u30fc\u30c1\u30f3\u306e\u691c\u67fb\u5ba4\u5206\u6790\u96fb\u89e3\u8cea\u3001\u8840\u6f3f\u304a\u3088\u3073\u5c3f\u4e2d\u30a2\u30df\u30ce\u9178\u3001\u7532\u72b6\u817a\u30de\u30fc\u30ab\u30fc\u3001\u6709\u6a5f\u9178\u3001\u8840\u6f3f\u30d7\u30ea\u30f3\u3001\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u7b49\u96fb\u70b9\u96fb\u6c17\u6cf3\u52d5\u3067\u5de6\u505c\u7559\u7cbe\u5de3\u304c\u8a8d\u3081\u3089\u308c\u3001\u7dcf\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u3063\u305f\u3002 \u899a\u9192\u6642\u304a\u3088\u3073\u7761\u7720\u6642\u306e\u8133\u6ce2\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 \u62e1\u6563\u5f37\u8abf\u753b\u50cf\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u7528\u3044\u305f\u8133\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u6cd5(MRI)\u306f\u3001\u30c6\u30f3\u30c8\u4e0b\u304a\u3088\u3073\u30c6\u30f3\u30c8\u4e0a\u69cb\u9020\u304a\u3088\u3073\u8133\u5ba4\u306e\u898f\u5247\u7684\u306a\u5bb9\u7a4d\u304a\u3088\u3073\u89e3\u5256\u5b66\u3092\u793a\u3057\u305f\u3002 \u810a\u690eMRI\u3067\u306f\u3001S5\u5f8c\u5f13\u306b\u88c2\u3051\u76ee\u3001S3\u304b\u3089S5\u306b\u304b\u3051\u3066\u4ed9\u9aa8\u9060\u4f4d\u90e8\u8102\u80aa\u816b\u75c7\u3001\u53f3S2\u306b\u5c0f\u3055\u306a\u6839\u5c16\u5468\u56f2\u56a2\u80deTarlov\u578b\u304c\u6307\u6458\u3055\u308c\u305f(<strong>\u56f31\u30012<\/strong>\u53c2\u7167)\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><strong>\u56f31<\/strong> S5\u5f8c\u5f13\u306e\u88c2\u3051\u76ee\u3068\u4ed9\u9aa8\u9060\u4f4d\u90e8\u306e\u8102\u80aa\u816b\u75c7\u3092\u793a\u3059\u810a\u690e\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"800\" height=\"508\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-a-1.jpg\" alt=\"\" class=\"wp-image-18191\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u56f32<\/strong> S2\u5fc3\u5c16\u90e8\u5468\u56f2\u56a2\u80de\u3092\u793a\u3059\u30b9\u30d4\u30f3\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u6cd5\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"737\" height=\"800\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-b-1.jpg\" alt=\"\" class=\"wp-image-18193\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d2\u30c8\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u547d\u540d\u6cd5\u306e\u305f\u3081\u306e\u56fd\u969b\u30b7\u30b9\u30c6\u30e0<sup><a href=\"#reference11\">11<\/a><\/sup> \u306b\u3088\u308c\u3070\u3001\u5c0f\u5150\u304a\u3088\u3073\u305d\u306e\u4e21\u89aa\u306e\u30ea\u30f3\u30d1\u7403\u57f9\u990a\u5f8c\u306b\u9ad8\u7cbe\u5ea6\u6838\u578b\u5206\u6790\u3092\u884c\u3063\u305f\u3068\u3053\u308d\u3001\u5e73\u5747\u89e3\u50cf\u5ea6\u306f550\u30d0\u30f3\u30c9\u3067\u3042\u308a\u3001\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u306b\u306f\u7d30\u80de\u5857\u5e03\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u305f\u3002<br>Cytofure ISCA 8\u00d760K v.2(\u86cb\u767d\u8ceaO\u2010GicNacTransferase,OGT)\u3092\u7528\u3044\u305f\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3(CGH)(\u30d2\u30c8DNA,Promega)\u5206\u6790\u3092\u5c0f\u5150\u3068\u305d\u306e\u4e21\u89aa\u304b\u3089\u306e\u672b\u68a2\u8840\u8a66\u6599\u304b\u3089\u62bd\u51fa\u3057\u305f\u30e1\u30c9\u30f3\u30b2\u30cd\u30c6\u30a3\u30c3\u30afDNA\u3092\u884c\u3063\u305f\u3002 \u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u89e3\u6790\u306f\u3001Cytofure Analysis Software(\u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5927\u5b66\u30b5\u30f3\u30bf\u30af\u30eb\u30fc\u30ba\u6821\u30b2\u30ce\u30e0\u30a2\u30bb\u30f3\u30d6\u30ea19)\u3067\u884c\u3063\u305f\u3002 \u54c1\u8cea\u30b9\u30b3\u30a2(\u30c7\u30ea\u30d0\u30c6\u30a3\u30d6\u30fb\u30ed\u30b0\u30fb\u30ec\u30b7\u30aa\u30fb\u30b9\u30d7\u30ec\u30c3\u30c9\u3001DLRS)\u306f&lt;0.25\u3067\u3042\u3063\u305f\u3002 \u5206\u6790\u30d1\u30e9\u30e1\u30fc\u30bf:4\u3064\u306e\u9023\u7d9a\u3059\u308b\u30d7\u30ed\u30fc\u30d6\u3002 \u5206\u89e3\u80fd:50~100Kb\u3002 RASopathies\u306e\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0(NGS)\u30d1\u30cd\u30eb\u3092\u5b9f\u65bd\u3057\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E6%9E%9C\"><\/span>\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5206\u6790\u306f\u3001\u5b50\u4f9b\u306b\u304a\u3044\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f537\u306e\u9577\u8155\u306e\u67d3\u8272\u4f53\u5185\u90e8\u5206\u91cd\u8907<\/a>\u3092\u4f34\u304646,XY\u6838\u578b\u3092\u793a\u3057\u300114.4Mb(7q21.3-q31.1):arr[hg 18](\u4ee5\u4e0b\u3001<strong>\u56f33A,3B<\/strong>)\u306b\u53ca\u3093\u3060\u3002 \u91cd\u8907\u306e\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u30de\u30fc\u30b8\u30f3\u306f\u300195054968pb\u4f4d\u306e\u6b63\u5e38\u30aa\u30ea\u30b4\u30de\u30fc\u304a\u3088\u3073109476740pb\u4f4d\u306e\u91cd\u8907\u30aa\u30ea\u30b4\u30de\u30fc\u306b\u3088\u3063\u3066\u306a\u3055\u308c\u308b\u3002 109557905pb\u306e\u6b63\u5e38\u30aa\u30ea\u30b4\u30de\u30fc\u3068109476740bp\u306e\u91cd\u8907\u30aa\u30ea\u30b4\u30de\u30fc\u306b\u3088\u3063\u3066\u4f5c\u88fd\u3055\u308c\u305f\u30c6\u30ed\u30e1\u30ea\u30c3\u30af\u30de\u30fc\u30b8\u30f3(<strong>\u56f34<\/strong>)\u3002 RASopathies NGS\u89e3\u6790\u3067\u306f\u3001\u5909\u5316\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u3002 \u4e21\u89aa\u306e\u6838\u578b\u304a\u3088\u3073\u30a2\u30ec\u30a4CGH\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u56f33<\/strong> (A,B) <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f537\u756a\u306e\u9577\u8155\u306b\u67d3\u8272\u4f53\u5185\u90e8\u5206\u91cd\u8907<\/a>\u3092\u793a\u3059\u5b50\u4f9b\u306e\u30ab\u30ea\u30aa\u30bf\u30a4\u30d7<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"349\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-c-1024x349.jpg\" alt=\"\" class=\"wp-image-18185\"\/><\/figure>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u56f34<\/strong> \u518d\u69cb\u6210\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u793a\u3059OMIM\u304b\u3089\u6539\u5909\u3055\u308c\u305f\u30a4\u30e1\u30fc\u30b8\u30f3\u30b0<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"800\" height=\"478\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-d.png\" alt=\"\" class=\"wp-image-18187\"\/><\/figure>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c0f\u5150\u306f\u3001\u8efd\u5ea6\u306e\u975e\u7279\u7570\u7684\u982d\u84cb\u9854\u9762\u7279\u5fb4\u3001\u5c0f\u982d\u75c7\u3001\u8efd\u5ea6\u767a\u9054\u9045\u6ede\u3001\u5fc3\u81d3\u304a\u3088\u3073\u9aa8\u683c\u969c\u5bb3\u304b\u3089\u306a\u308b\u5148\u5929\u7570\u5e38\u306e\u8907\u5408\u4f53\u3092\u793a\u3057\u305f\u3002 \u751f\u6b96\u5668\u3001\u624b\u3001\u8179\u90e8\u3082\u4fb5\u3055\u308c\u305f\u3002 \u5148\u5929\u6027\u5fc3\u75be\u60a3\u306f\u4e2d\u9694\u6b20\u640d\u3092\u4f34\u3046\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u304b\u3089\u306a\u308a\u3001\u9aa8\u683c\u7570\u5e38\u306fS5\u5f8c\u5f13\u88c2\u3001S3\uff5eS5\u306e\u9060\u4f4d\u4ed9\u9aa8\u8102\u80aa\u816b\u75c7\u3001\u304a\u3088\u3073\u53f3S2\u5fc3\u5c16\u5468\u56f2\u56a2\u80deTarlov\u578b\u3092\u793a\u3057\u305f;\u95a2\u7bc0\u62d8\u7e2e\u304a\u3088\u3073\u8db3\u9996\u5f01\u72ed\u7a84\u306b\u304a\u3051\u308b\u819d\u3082\u5b58\u5728\u3057\u305f\u3002 \u3055\u3089\u306b,\u8179\u76f4\u7b4b\u30b8\u30a2\u30b9\u30bf\u30b7\u30b9,\u5de6\u505c\u7559\u7cbe\u5de3,\u624b\u95a2\u7bc0\u5f1b\u7de9\u3092\u8a8d\u3081\u305f\u3002 \u30a2\u30ec\u30a4CGH\u306f\u3001\u3044\u304f\u3064\u304b\u306eOMIM\u304a\u3088\u3073RefSeq\u907a\u4f1d\u5b50\u3092\u6709\u3059\u308b\u67d3\u8272\u4f537q21.q31.1\u4e0a\u306e14.4Mb\u306e\u5927\u304d\u306a\u30b2\u30ce\u30e0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3092\u793a\u3057\u305f:\u518d\u7de8\u6210\u3055\u308c\u305f\u9818\u57df\u306f230\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080(<strong>\u56f34<\/strong>)\u3002 SFARI\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u3088\u308c\u3070\u3001ACTL6B\u3001FOXP2\u3001PONI\u3001KMT2E\u306a\u3069\u306e\u3044\u304f\u3064\u304b\u306e\u3082\u306e\u306f\u3001\u30b7\u30ca\u30d7\u30b9\u53ef\u5851\u6027\u304a\u3088\u3073\u81ea\u9589\u6027\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u6a5f\u69cb\u306a\u3089\u3073\u306b\u8133\u304a\u3088\u3073\u4ed6\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5148\u5929\u6027\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u4ed6\u306e\u69cb\u9020\u7684\u7570\u5e38(<strong>\u56f35<\/strong>)\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u56f35<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30eb\u969c\u5bb3\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3092\u793a\u3059SFARI\u907a\u4f1d\u5b50\u3092\u6539\u5909\u3057\u305f\u753b\u50cf\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"800\" height=\"379\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-e.png\" alt=\"\" class=\"wp-image-18189\"\/><\/figure>\n<\/div><\/div>\n\n\n\n<p>\u67d3\u8272\u4f537q\u306f\u7570\u306a\u308b\u69cb\u9020\u518d\u7de8\u6210\u3092\u53d7\u3051\u3084\u3059\u3044\u3002 \u6d78\u6f64\u3057\u305f\u9593\u8cea\u3001\u8fd1\u4f4d\u3001\u307e\u305f\u306f\u9060\u4f4d\u306e\u5404\u30bb\u30b0\u30e1\u30f3\u30c8\u306b\u5fdc\u3058\u305f\u7279\u7570\u7684\u306a\u81e8\u5e8a\u5fb4\u5019\u3092\u5f37\u8abf\u3057\u3088\u3046\u3068\u3059\u308b\u8a66\u307f\u306f\u3001\u660e\u78ba\u306b\u5b9a\u7fa9\u3055\u308c\u3066\u3044\u306a\u3044\u3002 Alfonsi\u3089\u306f\u3001q21.1-q22.3\u9818\u57df\u304c\u95a2\u4e0e\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u90e8\u5206\u7684\u306a\u67d3\u8272\u4f537q\u91cd\u8907<\/a>\u3092\u5448\u3059\u308b\u89b3\u5bdf\u4f8b\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u3001\u985e\u4f3c\u3057\u305f7q\u518d\u69cb\u6210\u3092\u6709\u3059\u308b\u6587\u732e\u304b\u3089\u62bd\u51fa\u3057\u305f6\u4eba\u306e\u60a3\u8005\u3068\u6bd4\u8f03\u3059\u308b\u3053\u3068\u3092\u8a66\u307f\u305f\u3002 \u3053\u308c\u3089\u306e\u8457\u8005\u3089\u306f\u3001\u77e5\u80fd\u9045\u5ef6\u3068\u4f4e\u96c6\u5408\u5947\u5f62\u8033\u306e\u5b58\u5728\u304c\u3001\u305d\u308c\u3089\u81ea\u8eab\u3092\u542b\u3080\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u3001\u773c\u306e\u659c\u8996\u3068\u524d\u982d\u7a81\u8d77\u306e\u7279\u5fb4\u304c6\u4f8b\u3001\u9aa8\u683c\u7570\u5e38\u304c5\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u305f\u3002 \u60a3\u8005\u306e\u3046\u30613\u4eba\u306f\u3001\u751f\u6b96\u5668\u6b20\u640d\u3001\u5de8\u982d\u75c7\u3001\u53ca\u3073\u9ad8\u773c\u77bc\u75c7\u3001\u5c0f\u3055\u306a\u4e0a\u5411\u304d\u9f3b\u3001\u5c0f\u984e\u5f8c\u75c7\u3001\u53e3\u84cb\u88c2\u3001\u53ca\u3073\u9ad8\u5f13\u72b6\u53e3\u84cb\u306e\u3088\u3046\u306a\u3044\u304f\u3064\u304b\u306e\u985e\u4f3c\u3057\u305f\u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\u3092\u793a\u3057\u305f\u3002<sup><a href=\"#reference01\">1<\/a><\/sup> \u8457\u8005\u3089\u306f\u3001\u7d14\u7c8b\u306a\u67d3\u8272\u4f537q\u8fd1\u4f4d\u65ad\u7247\u3092\u6709\u3059\u308b\u60a3\u8005\u3067\u306f\u3001\u7279\u7570\u7684\u306a\u8a3a\u65ad\u4e0a\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u304c\u751f\u3058\u3066\u3044\u306a\u3044\u3068\u3044\u3046\u7d50\u8ad6\u3092\u5c0e\u3044\u305f\u3002<sup><a href=\"#reference01\">1<\/a><\/sup> \u672c\u7814\u7a76\u3067\u306f\u3001\u672c\u75c7\u4f8b\u3092\u542b\u3080\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u91cd\u8907<\/a>\u9593\u8cea\u6027(7q22\uff5e7q32)\u30bb\u30b0\u30e1\u30f3\u30c8\u306e8\u75c7\u4f8b\u306e\u5404\u3005\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u3092\u5206\u6790\u3057\u3001\u81e8\u5e8a\u7684\u985e\u4f3c\u6027\u307e\u305f\u306f\u5dee\u7570\u3092\u8a55\u4fa1\u3057\u305f(<strong>\u88681<\/strong>)\u3002 \u9593\u8cea\u6027\u7fa4\u3067\u306f\u3001\u7537\u60273\u4f8b\u3001\u5973\u60274\u4f8b\u304c\u7f79\u60a3\u3057\u3066\u304a\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306e\u6709\u75c5\u7387\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u3002\u767a\u9054\u9045\u6ede\u304a\u3088\u3073\u8efd\u5ea6\u306e\u975e\u7279\u7570\u7684\u9854\u8c8c\u304c\u5168\u75c7\u4f8b\u3067\u5831\u544a\u3055\u308c\u305f\u3002 \u7279\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u9854\u306e\u7279\u5fb4\u3092\u898b\u308b\u3068\u3001\u524d\u982d\u9686\u8d77\u3068\u30a8\u30d4\u30ab\u30ca\u30b9\u306f7\u4f8b\u4e2d6\u4f8b\u3001\u4f4e\u4f4d\u8033\u306f4\u4f8b\u3001\u5c0f\u984e\u5f8c\u75c7\u306f2\u4f8b\u3067\u5831\u544a\u3055\u308c\u305f\u3002 \u4f4e\u8840\u5727\u3001\u767a\u80b2\u9045\u5ef6\u306f7\u4f8b\u4e2d6\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u3001\u773c\u5185\u659c\u8996\u306f5\u4f8b\u3067\u3042\u3063\u305f\u3002 3\u4eba\u306e\u5c0f\u5150\u306f\u5c0f\u982d\u75c7\u3067\u3042\u308a\u3001\u5fc3\u81d3\u3001\u9aa8\u683c\u3001\u751f\u6b96\u5668\u306e\u7570\u5e38\u767a\u6c57\u304c\u672c\u75c7\u4f8b\u306e\u307f\u3067\u5831\u544a\u3055\u308c\u305f\u304c\u3001\u4ed6\u306e\u5c0f\u5150\u3067\u306f\u5831\u544a\u3055\u308c\u306a\u304b\u3063\u305f\u3002 \u30d2\u30eb\u30b7\u30e5\u30fc\u30c6\u30a3\u30ba\u30e0\u3068\u80a1\u95a2\u7bc0\u4e9c\u8131\u81fc\u306f1\u4f8b\u3067\u5831\u544a\u3055\u308c,\u8133\u5947\u5f62\u3068\u814e\u7570\u5f62\u6210\u306f1\u4f8b\u306e\u307f\u3067\u3042\u3063\u305f\u3002<sup><a href=\"#reference02\">2<\/a>, <a href=\"#reference04\">4<\/a>, <a href=\"#reference07\">7<\/a>, <a href=\"#reference15\">15<\/a>, <a href=\"#reference17\">17<\/a>, <a href=\"#reference18\">18<\/a>, <a href=\"#reference21\">21<\/a><\/sup> \u3053\u308c\u3089\u306e\u7d50\u679c\u3092\u5206\u6790\u3059\u308b\u3068\u3001\u77e5\u80fd\u9045\u5ef6\u304a\u3088\u3073\u8efd\u5ea6\u306e\u982d\u84cb\u9854\u9762\u9045\u5ef6\u3092\u9664\u304d\u3001\u660e\u78ba\u306a\u8a3a\u65ad\u3092\u793a\u3059\u7279\u7570\u7684\u306a\u81e8\u5e8a\u5fb4\u5019\u306f\u63d0\u8d77\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u660e\u3089\u304b\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> \u7d14\u7c8b\u306a7q\u306e\u9060\u4f4d\u91cd\u8907<sup><a href=\"#reference01\">1<\/a>, <a href=\"#reference03\">3<\/a>, <a href=\"#reference06\">6-10<\/a><\/sup>\u3092\u5448\u3057\u305f8\u4f8b\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u3068\u7d14\u7c8b\u306a7q\u306e\u9593\u8cea\u91cd\u8907\u3092\u5448\u3057\u305f\u672c\u4f8b\u3068\u306e\u6bd4\u8f03<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table style=\"max-width: 400px;\">\n<colgroup>\n    <col style=\"width:calc(100% \/ 3)\">\n    <col style=\"width:calc(100% \/ 3)\">\n    <col style=\"width:calc(100% \/ 3)\">\n<\/colgroup>\n<thead>\n<tr>\n<th><\/th><th>\u9060\u4f4d7q<\/th><th>\u73fe\u5728\u306e\u75c7\u4f8b<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u30b8\u30a7\u30f3\u30c0\u30fc<\/td><td>M\/F: 7\/1<\/td><td>M<\/td>\n<\/tr>\n<tr>\n<td>\u9854\u306e\u7279\u5fb4<\/td><td>8\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td>\u5927\u578b\u30d8\u30c3\u30c9<\/td><td>5\/8<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>\u767a\u751f\u9045\u5ef6<\/td><td>8\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3<\/td><td>1\/8<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>\u9aa8\u683c\u7570\u5e38<\/td><td>4\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td>\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62<\/td><td>2\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/td><td>1\/8<\/td><td>+<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n\n<p><\/p>\n<\/div><\/div>\n\n\n\n<p>\u7d14\u7c8b\u306a\u9593\u8cea\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u91cd\u8907<\/a>\u3068\u7d14\u7c8b\u306a\u9593\u8cea\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u91cd\u8907<\/a>\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u3092\u3001\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f6\u4f8b\u3068\u73fe\u5728\u306e\u5c0f\u5150\u3067\u89b3\u5bdf\u3055\u308c\u305f6\u4f8b\u3068\u3092\u6bd4\u8f03\u3057\u3066\u3001\u691c\u8a0e\u3057\u305f(<strong>\u88682<\/strong>)\u3002<sup><a href=\"#reference03\">3<\/a>, <a href=\"#reference06\">6<\/a>, <a href=\"#reference10\">10<\/a>, <a href=\"#reference17\">17<\/a>, <a href=\"#reference20\">20<\/a>, <a href=\"#reference22\">22<\/a><\/sup> \u3053\u308c\u3089\u306e\u7d50\u679c\u3092\u5206\u6790\u3059\u308b\u3068\u3001\u308f\u305a\u304b\u306a\u975e\u7279\u7570\u7684\u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\u3001\u77e5\u7684\u9045\u5ef6\u3001\u304a\u3088\u3073\u308f\u305a\u304b\u306a\u983b\u5ea6\u3067\u306e\u9aa8\u683c\u969c\u5bb3\u304c\u3001\u9060\u4f4d\u304a\u3088\u3073\u9593\u8cea\u6027\u67d3\u8272\u4f537q\u6d78\u6f64\u3092\u4f34\u3046\u73fe\u5728\u306e\u5c0f\u5150\u7fa4\u306e\u3044\u305a\u308c\u306b\u304a\u3044\u3066\u3082\u3001\u6700\u3082\u4ee3\u8868\u7684\u306a\u81e8\u5e8a\u5fb4\u5019\u3067\u3042\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u3067\u3042\u308b\u3088\u3046\u306b\u601d\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<section class=\"note_table\">\n<p><strong>\u88682<\/strong> \u5831\u544a\u3055\u308c\u305f6\u4f8b(8\u4f8b\u300111\u4f8b-15\u4f8b)\u3068\u672c\u75c7\u4f8b\u306e\u7d14\u7c8b\u306a\u9593\u8cea\u60277q\u91cd\u8907\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:20%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n<\/colgroup>\n<thead>\n<tr>\n<th><\/th><th>\u30b0\u30ec\u30fc\u30b9\u4ed6(1972)<\/th><th>\u30d0\u30fc\u30ac\u30fc\u4ed6(1974)<\/th><th>\u30bb\u30eb\u30d3\u30eb\u4ed6(1975)<\/th><th>\u30ed\u30fc\u30de\u4ed6(1990)<\/th><th>\u30e1\u30ac\u30eb\u30d0\u30cd\u4ed6(2000)<\/th><th>\u30ef\u30a4\u30de\u30fc\u4ed6(2011)<\/th><th>\u73fe\u5728\u306e\u75c7\u4f8b<\/th><th>\u5408\u8a08<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u67d3\u8272\u4f537<\/td><td>q22-q32<\/td><td>q21-q31<\/td><td>q22-q31<\/td><td>q22-q31.2<\/td><td>q22-q31.3<\/td><td>q21.1-q31.3<\/td><td>q21.3-q31.1<\/td><td><\/td>\n<\/tr>\n<tr>\n<td>\u6027<\/td><td>F<\/td><td>M<\/td><td>M<\/td><td>F<\/td><td>F<\/td><td>F<\/td><td>M<\/td><td>3 M\/4 F<\/td>\n<\/tr>\n<tr>\n<th colspan=\"9\">\u9854\u306e\u7279\u5fb4<\/th>\n<\/tr>\n<tr>\n<td>\u524d\u9762\u30dc\u30b9\u52a0\u5de5<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u30a8\u30d4\u30ab\u30f3\u30c8\u30a5\u30b9<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5c0f\u984e\u5f8c\u75c7<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>2\/7<\/td>\n<\/tr>\n<tr>\n<td>\u4f4e\u97f3<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>4\/7<\/td>\n<\/tr>\n<tr>\n<td>\u958b\u767a\u9045\u5ef6<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>7\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5c0f\u8133\u75c7<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>3\/7<\/td>\n<\/tr>\n<tr>\n<td>\u4f4e\u8840\u5727<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u767a\u80b2\u9045\u5ef6<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>1\/7<\/td>\n<\/tr>\n<tr>\n<td>\u6027\u5668\u5947\u5f62<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>1\/7<\/td>\n<\/tr>\n<tr>\n<td>\u9aa8\u683c\u7570\u5e38<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>1\/7<\/td>\n<\/tr>\n<tr>\n<td>\u773c\u306e\u7570\u5e38<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>&#8211;<\/td><td>5\/7<\/td>\n<\/tr>\n<tr>\n<td>\u305d\u306e\u4ed6\u306e\u7570\u5e38<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>5\/7<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<figcaption>F \u5973\u6027\u3002M \u7537\u6027\u3002<br>\n\u6ce8:\u305d\u306e\u4ed6\u306e\u7570\u5e38\u3068\u3057\u3066\u306f\u30012\u4f8b\uff0814\u300115\uff09\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u591a\u6bdb\u75c7\u30011\u4f8b8\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u96e3\u8074\u3068\u814e\u7570\u5f62\u6210\u3001\u305d\u3057\u3066\u672c\u75c7\u4f8b\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u810a\u690e\u306e\u7570\u5e38\u304c\u3042\u308a\u307e\u3059\u3002<\/figcaption>\n<\/figure>\n<\/div>\n<\/section>\n<\/div><\/div>\n\n\n\n<p>\u7d14\u7c8b\u306a\u5358\u96e2\u3055\u308c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u67d3\u8272\u4f53\u306e\u91cd\u8907<\/a>\u3092\u9664\u3044\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u7570\u5e38<\/a>\u306f\u3001\u540c\u3058\u67d3\u8272\u4f53\u307e\u305f\u306f\u4ed6\u306e\u67d3\u8272\u4f53\u304c\u95a2\u4e0e\u3059\u308b\u518d\u914d\u5217\u3068\u95a2\u9023\u3057\u3066\u8d77\u3053\u308a\u3001\u7570\u306a\u308b\u3088\u308a\u8907\u96d1\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b\u3002 Fruhmesser\u3089\u306f\u30017q31.2.2q32.3\u306e\u8ffd\u52a0\u7684\u53cd\u8ee2\u3092\u4f34\u30467q22q32\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306e\u75c7\u4f8b\u3092\u5831\u544a\u3057\u305f\u3002<sup><a href=\"#reference15\">15<\/a><\/sup> \u5c0f\u5150\u306f\u767a\u9054\u9045\u6ede,\u767a\u80b2\u4e0d\u5168,\u624b\u306e\u7570\u5e38,\u52d5\u8108\u7ba1\u958b\u5b58\u3068\u5375\u5186\u5b54\u958b\u5b58\u3092\u5448\u3059\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u793a\u3057\u305f\u3002<br>\u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\u306f\u3001\u524d\u982d\u90e8\u9686\u8d77\u3001\u308f\u305a\u304b\u306b\u4e0b\u5411\u304d\u306e\u773c\u77bc\u88c2\u3001\u5e83\u3044\u9f3b\u6839\u3001\u9577\u3044\u89aa\u548c\u6027\u306e\u5c0f\u984e\u75c7\u3001\u304a\u3088\u3073\u7a81\u51fa\u3057\u305f\u8033\u304b\u3089\u306a\u3063\u3066\u3044\u305f\u3002 Pathtinige\u3089\u306f\u30017q22.-qter\u306e\u5973\u5150\u30c8\u30ea\u30bd\u30df\u30fc\u3067\u300114\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u907a\u4f1d\u7269\u8cea\u306e\u55aa\u5931\u304c\u6700\u5c0f\u9650\u3067\u3042\u308b\u3053\u3068\u3092\u5831\u544a\u3057\u305f\u3002<sup><a href=\"#reference13\">13<\/a><\/sup> \u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\u3001\u767a\u9054\u9045\u6ede\u3001\u304a\u3088\u3073\u8133\u5ba4\u80a5\u5927\u306f\u3001\u975e\u5bfe\u79f0\u6027\u982d\u84cb\u3001\u4e09\u89d2\u5f62\u9854\u5f62\u3001\u9ad8\u984d\u3001\u9ad8\u982d\u84cb\u75c7\u3001\u524d\u982d\u8449\u75c7\u3001\u5e73\u5766\u306a\u9f3b\u6a4b\u3001\u5c0f\u984e\u75c7\u3001\u304a\u3088\u3073\u4f4e\u4f4d\u5947\u5f62\u8033\u3092\u5448\u3059\u308b\u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\u3092\u4f34\u3046\u4e3b\u306a\u5fb4\u5019\u3067\u3042\u3063\u305f\u3002<sup><a href=\"#reference16\">16<\/a><\/sup> \u8457\u8005\u3089\u306f\u3001\u3053\u306e\u75c7\u4f8b\u3067\u306f\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u660e\u78ba\u306a\u76f8\u95a2\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u3068\u3044\u3046\u6587\u732e\u306e\u7d50\u679c\u3068\u4e00\u81f4\u3057\u305f\u3002<br>\u672c\u60a3\u5150\u306f\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u304b\u3089\u6210\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u793a\u3057\u3001\u3053\u308c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4<\/a>\u306e\u5178\u578b\u7684\u306a\u5fb4\u5019\u306e1\u3064\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u7570\u5e38\u3067\u3042\u308b\u3002 \u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001RAS\/MAPK\u7d4c\u8def<sup><a href=\"#reference17\">17<\/a><\/sup> \u306e\u5171\u901a\u306e\u8abf\u7bc0\u7570\u5e38\u3092\u5171\u6709\u3059\u308b\u300cRASopathies\u300d\u3068\u547c\u3070\u308c\u308b\u75be\u60a3\u7fa4\u306b\u5206\u985e\u3055\u308c\u308b\u305f\u3081\u3001RAS\/MAPK\u7d4c\u8def\u306b\u95a2\u4e0e\u3059\u308b\u5909\u5316\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3002 \u5fc3\u81d3\u6b20\u640d\u3092\u542b\u3080\u73fe\u5728\u306e\u5c0f\u5150\u306b\u3088\u304f\u307f\u3089\u308c\u308b\u81e8\u5e8a\u5fb4\u5019\u306e\u305f\u3081\u3001\u6211\u3005\u306fRASopathy\u4e3b\u8981\u907a\u4f1d\u5b50\u306e\u305f\u3081\u306eNGS\u30d1\u30cd\u30eb\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b66\u7684\u7814\u7a76\u3092\u62e1\u5f35\u3057\u3001\u3053\u306e\u75c7\u4f8b\u3067\u306f\u9670\u6027\u7d50\u679c\u304c\u5f97\u3089\u308c\u305f\u3002 \u3055\u3089\u306b\u3001\u672c\u60a3\u5150\u306f\u9aa8\u683c\u7cfb\u3001\u7279\u306bS5\u5f8c\u5f13\u88c2\u3092\u4f34\u3046\u810a\u690e\u3001\u4ed9\u5c3e\u9aa8\u8102\u80aa\u816b\u75c7\u3001\u304a\u3088\u3073\u4ed9\u5c3e\u9aa8\u5947\u5f62\u306b\u5f71\u97ff\u3059\u308b\u7570\u5e38\u3092\u793a\u3057\u305f\u3002 \u7570\u5e38(\u6700\u5f8c\u306e\u3082\u306e)\u306f\u3001Currarino\u75c7\u5019\u7fa4(CS)\u306e\u4e00\u90e8\u3067\u3042\u308b\u3002<br>\u5e38\u67d3\u8272\u4f53\u512a\u6027\u4ed9\u9aa8\u7121\u5f62\u6210\u3068\u3057\u3066\u77e5\u3089\u308c\u308bCS\u306f\u3001\u4ed9\u9aa8\u306e\u90e8\u5206\u7684\u6b20\u640d\u3092\u7279\u5fb4\u3068\u3059\u308b\u53e4\u5178\u7684\u306a\u4e09\u5fb4\u3067\u3042\u308a\u3001\u7b2c\u4e00\u4ed9\u690e\u306e\u640d\u50b7\u3001\u4ed9\u9aa8\u524d\u90e8\u816b\u7624\u3001\u76f4\u8178\u809b\u9580\u7570\u5e38\u3092\u4f34\u3046\u3002<sup><a href=\"#reference18\">18<\/a><\/sup> CS\u306f\u3001\u5c3e\u90e8\u306e\u307f\u306e\u5947\u5f62\u304b\u3089\u8907\u96d1\u306a\u81d3\u5668\u7cfb\u5947\u5f62\u307e\u3067\u69d8\u3005\u306a\u81e8\u5e8a\u7684\u767a\u73fe\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u3002 \u3053\u306e\u75be\u60a3\u306f\u3001\u67d3\u8272\u4f537q36<sup><a href=\"#reference08\">8<\/a><\/sup>\u306b\u30de\u30c3\u30d7\u3055\u308c\u305f\u30db\u30e1\u30aa\u30dc\u30c3\u30af\u30b9\u907a\u4f1d\u5b50\u3067\u3042\u308bHLXB9\u306e\u6709\u5bb3\u306a\u5909\u7570\u4f53\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3002 Pavone\u3089\u306f\u3001\u5c0f\u982d\u75c7\u3001\u76ae\u8cea\u80a5\u539a\u306e\u6b20\u5982\u3001\u4e0b\u90e8\u866b\u90e8\u4f4e\u5f62\u6210\u3001CS\u306e\u5fb4\u5019\u3092\u4f34\u3046\u51fa\u751f\u524d\u304a\u3088\u3073\u51fa\u751f\u5f8c\u306e\u767a\u80b2\u9045\u5ef6\u304a\u3088\u3073\u8907\u96d1\u306a\u5947\u5f62\u3092\u5448\u3059\u308b\u5973\u5150\u304c\u3001\u4ed9\u9aa8\u90e8\u5206\u7121\u5f62\u6210\u304a\u3088\u3073\u5b8c\u5168\u5c3e\u9aa8\u7121\u5f62\u6210\u3001\u4ed9\u9aa8\u5185\u985e\u76ae\u816b\u3001\u786c\u819c\u5185\u8102\u80aa\u816b\u3001\u7570\u6240\u6027\u809b\u9580\u3001\u304a\u3088\u3073\u7e4b\u7559\u7d22\u3068\u3057\u3066\u8a8d\u3081\u3089\u308c\u305f\u3053\u3068\u3092\u5831\u544a\u3057\u3066\u3044\u308b\u3002<sup><a href=\"#reference19\">19-22<\/a><\/sup> \u5c0f\u5150\u306f7q34-q35\u306ede novo<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u304a\u3088\u30737q36\u306e8.8-Mb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u793a\u3057\u305f\u3002 \u3053\u306e\u914d\u5217\u306b\u306fHLXB9(CS)\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c,Pavone et alal\u306e\u75c7\u4f8b\u5831\u544a\u306f\u898b\u3064\u304b\u3089\u306a\u304b\u3063\u305f\u3002<sup><a href=\"#reference14\">14<\/a><\/sup> \u4eca\u56de\u306e\u5c0f\u5150\u3067\u5831\u544a\u3055\u308c\u305f\u810a\u690e\u5947\u5f62\u3068CS\u3067\u5831\u544a\u3055\u308c\u305f\u810a\u690e\u5947\u5f62\u3068\u306e\u9593\u306e\u81e8\u5e8a\u7684\u95a2\u4fc2\u306f\u672a\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span>\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d50\u8ad6\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">q7\u91cd\u8907<\/a>\u306e\u7570\u306a\u308b\u8fd1\u4f4d\u90e8\u3001\u9593\u8cea\u90e8\u3001\u9060\u4f4d\u90e8\u306e\u7d14\u30bb\u30b0\u30e1\u30f3\u30c8\u306b\u95a2\u4e0e\u3059\u308b\u500b\u4eba\u306b\u8a8d\u3081\u3089\u308c\u308b\u81e8\u5e8a\u5fb4\u5019\u304a\u3088\u3073\u8eab\u4f53\u5668\u5b98\u306f\u3001\u975e\u7279\u7570\u7684\u3067\u3042\u308a\u3001\u8a3a\u65ad\u7684\u306b\u306f\u793a\u5506\u3055\u308c\u306a\u3044\u3002 \u7279\u6709\u306e\u9854\u50cf\u304a\u3088\u3073\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u975e\u7279\u7570\u7684\u306a\u8a3a\u65ad\u5fb4\u5019\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u3092\u9664\u3044\u3066\u3001\u6d78\u6f64\u3057\u305f\u9593\u8cea\u5206\u7bc0\u306b\u6d78\u6f64\u3057\u305f1\u4f8b\u306b\u3064\u3044\u3066\u3082\u3001\u540c\u3058\u7d50\u679c\u304c\u5f97\u3089\u308c\u305f\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u502b\u7406\u7684\u627f\u8a8d<\/strong><br>\u672c\u8a66\u9a13\u306f\u30d8\u30eb\u30b7\u30f3\u30ad\u5ba3\u8a00\u306e\u502b\u7406\u6307\u91dd\u306b\u6e96\u62e0\u3057\u3001\u30a4\u30bf\u30ea\u30a2\u3001\u30ab\u30bf\u30cb\u30a2\u306e\u5927\u5b66\u75c5\u9662\u502b\u7406\u59d4\u54e1\u4f1a\u300c\u30dd\u30ea\u30af\u30ea\u30ce\u30fb\u30ac\u30b9\u30da\u30a2\u30fb\u30ed\u30c9\u30ea\u30b3\u300d(nd: 1268 23\/04\/2017)\u306b\u3088\u308a\u627f\u8a8d\u3055\u308c\u305f\u3002 \u672c\u75c7\u4f8b\u5831\u544a\u66f8\u304a\u3088\u3073\u4ed8\u968f\u3059\u308b\u753b\u50cf\u3092\u767a\u8868\u3059\u308b\u305f\u3081\u306b\u3001\u60a3\u8005\u304b\u3089\u6587\u66f8\u306b\u3088\u308b\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30fb\u30b3\u30f3\u30bb\u30f3\u30c8\u3092\u5f97\u305f\u3002<\/p>\n\n\n\n<p><strong>\u8457\u8005\u306e\u8ca2\u732e<\/strong><br>\u5404\u8457\u8005\u306f\u3001\u8457\u4f5c\u7269\u306e\u69cb\u60f3\u307e\u305f\u306f\u30c7\u30b6\u30a4\u30f3\u306b\u5b9f\u8cea\u7684\u306a\u8ca2\u732e\u3092\u3057\u3001\u91cd\u8981\u306a\u77e5\u7684\u5185\u5bb9\u306e\u305f\u3081\u306b\u305d\u308c\u3092\u6279\u5224\u7684\u306b\u6539\u8a02\u3057\u305f\u3002 \u3055\u3089\u306b\u3001\u5404\u8457\u8005\u306f\u6700\u7d42\u7248\u3092\u516c\u8868\u3059\u308b\u3053\u3068\u3092\u627f\u8a8d\u3057\u305f\u3002 \u9006\u306b\u3001\u5404\u57f7\u7b46\u8005\u306f\u3001\u4f5c\u696d\u306e\u3044\u304b\u306a\u308b\u90e8\u5206\u306e\u6b63\u78ba\u6027\u53c8\u306f\u5b8c\u5168\u6027\u306b\u95a2\u3059\u308b\u554f\u984c\u3082\u9069\u5207\u306b\u8abf\u67fb\u3055\u308c\u3001\u89e3\u6c7a\u3055\u308c\u308b\u3053\u3068\u3092\u78ba\u4fdd\u3059\u308b\u4e0a\u3067\u3001\u4f5c\u696d\u306e\u3059\u3079\u3066\u306e\u5074\u9762\u306b\u3064\u3044\u3066\u8aac\u660e\u8cac\u4efb\u3092\u8ca0\u3046\u3053\u3068\u306b\u5408\u610f\u3057\u305f\u3002<\/p>\n\n\n\n<p><strong>\u8cc7\u91d1\u8abf\u9054<\/strong><br>\u306a\u3057\u3002<\/p>\n\n\n\n<p><strong>\u5229\u76ca\u76f8\u53cd<\/strong><br>\u7533\u544a\u306a\u3057\u3002<\/p>\n\n\n\n<p><strong>\u8b1d\u8f9e<\/strong><br>\u8abf\u67fb\u306b\u3054\u53c2\u52a0\u3044\u305f\u3060\u304d\u3001\u8cc7\u6599\u30fb\u753b\u50cf\u306e\u516c\u8868\u306b\u3054\u540c\u610f\u3044\u305f\u3060\u304d\u3001\u3042\u308a\u304c\u3068\u3046\u3054\u3056\u3044\u307e\u3057\u305f\u3002<\/p>\n<\/div><\/div>\n<\/div><\/div>\n\n\n\n<p><strong>\u53c2\u8003\u6587\u732e<\/strong><br>\n<a name=\"reference01\"><\/a>1 Alfonsi M, Palka C, Morizio E, et al. \u7d14\u7c8b\u306a\u90e8\u52067q\u91cd\u8907\u306e\u65b0\u3057\u3044\u75c7\u4f8b\u3002 \u7d30\u80de\u907a\u4f1d\u5b66\u30b2\u30ce\u30e0\u7814\u7a762012;136(01):1-5<br>\n<a name=\"reference02\"><\/a>2 Bartsch O, Kalbe U, Ngo TK, Lettau R, Schwinger E. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>7q\u306e\u81e8\u5e8a\u8a3a\u65ad\u3002 Am J Med Genet 1990;37 (02):254\u2013257<br>\n<a name=\"reference03\"><\/a>3\u30d0\u30fc\u30ac\u30fc\u30fbR\u3001\u30c7\u30e9\u30fc\u30fbJ\u3001\u30aa\u30eb\u30c6\u30a3\u30b9\u30de\u30b5\u30c1\u30e5\u30fc\u30bb\u30c3\u30c4\u5dde\u3002 \u7b2c7\u67d3\u8272\u4f53\u306e\u9577\u3055\u3067\u306f\u3001\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u5c11\u306a\u304f\u306a\u308b\u3002 Nouv Presse Med 1974;3(29):1801\u20131804<br>\n<a name=\"reference04\"><\/a>4 CouzinDA,HaitesN,Watt JL, JohnstonAW. 2\u4eba\u306e\u5c0f\u5150\u306b\u304a\u3051\u308b7(q32&#8211;qter)\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\u3002 JMed Genet 1986;23(05):461-465<br>\n<a name=\"reference05\"><\/a>5 Fruhmesser A, ErdelM, DubaHC, et al.CombinedDup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), \u304a\u3088\u3073Ins(7;19)(q22.1;p13.2p13.2)\u306f\u300112\u6b73\u306e\u7537\u5150\u3067\u3001\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u7a2e\u3005\u306e\u7570\u5f62\u3092\u4f34\u3046\u3002 Eur J Med Genet 2013;56(07):383\u2013388<br>\n<a name=\"reference06\"><\/a>6\u30b0\u30ec\u30fc\u30b9E, Sutherland GR, Bain AD. \u5bb6\u65cf\u6027\u633f\u5165\u8ee2\u5ea7\u3002 Lancet 1972;2(7770):231<br>\n<a name=\"reference07\"><\/a>7 Keith CG, Webb GC, Rogers JG. \u67d3\u8272\u4f53\u30bb\u30b0\u30e1\u30f3\u30c87q32&#8211;q34\u306e\u91cd\u8907\u3068\u95a2\u9023\u3059\u308b\u5916\u5074\u76f4\u7b4b\u306e\u6b20\u640d\u3002 J Med Genet 1988;25(02):122-125<br>\n<a name=\"reference08\"><\/a>8 Kim IS, Oh SY, Choi SJ, et al. \u30ab\u30e9\u30ea\u30ce\u75c7\u5019\u7fa4\u306e\u97d3\u56fd\u4eba\u60a3\u8005\u306b\u304a\u3051\u308bHLXB9\u907a\u4f1d\u5b50\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u907a\u4f1d\u7684\u89e3\u6790 J Hum Genet 2007;52(08):698-701<br>\n<a name=\"reference09\"><\/a>9 Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. \u5e38\u67d3\u8272\u4f53\u512a\u6027\u4ed9\u9aa8\u7121\u767a\u751f: Currarino\u75c7\u5019\u7fa4\u3002 J Med Genet 2000;37(08):561-566<br>\n<a name=\"reference10\"><\/a>10 M\u00e9garban\u00e9 A, Gosset P, Souraty N, et al. \u67d3\u8272\u4f537q22-q31\u306e\u91cd\u8907:\u65b0\u898f\u75c7\u4f8b\u306e\u5831\u544a\u3068\u30ec\u30d3\u30e5\u30fc\u3002 Am J Med Genet 2000;95(02):164\u2013168<br>\n<a name=\"reference11\"><\/a>11 Mcgowan-Jordan J, Simons A, Schmid M, eds. ISCN 2016:\u30d2\u30c8\u7d30\u80de\u30b2\u30ce\u30e0\u547d\u540d\u6cd5\u306e\u305f\u3081\u306e\u56fd\u969b\u30b7\u30b9\u30c6\u30e0\u3002 \u30d0\u30fc\u30bc\u30eb:S. Karger; 2016<br>\n<a name=\"reference12\"><\/a>12 NovalesMA, Fernandez-Novoa C, Hevia A, San Martin V, Galera H. Partial trisomy for the long armof chromosome 7. \u75c7\u4f8b\u5831\u544a\u304a\u3088\u3073\u30ec\u30d3\u30e5\u30fc\u3002 Hum Genet 1982;62(04):378-381<br>\n<a name=\"reference13\"><\/a>13 Paththinige CS, Sirisena ND, Kariyawasam UGIU, et al. \u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc7q22.1\u306b\u3088\u308b\u591a\u767a\u6027\u5148\u5929\u7570\u5e38\u306e\u5c0f\u5150! \u6bcd\u6027\u907a\u4f1d\u6027\u30d0\u30e9\u30f3\u30b9\u8ee2\u5ea7\u306e\u7d50\u679c\u3068\u3057\u3066\u751f\u3058\u308bqter:\u75c7\u4f8b\u5831\u544a\u304a\u3088\u3073\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002 BMC Med Genomics 2018;11(01):44<br>\n<a name=\"reference14\"><\/a>14 Pavone P, Ruggieri M, Lombardo I, et al. \u5c0f\u8133\u75c7\u3001\u611f\u97f3\u96e3\u8074\u3001\u304a\u3088\u3073\u9060\u4f4d7q\u306e\u91cd\u8907\u6b20\u5931\u3092\u4f34\u3046Currarino\u4e09\u5fb4\u3002 Eur J Pediatr 2010;169(04):475\u2013481<br>\n<a name=\"reference15\"><\/a>15 Pavone P, Corsello G, Marino SD, RuggieriM, Falsaperla R. 7q31.32<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>: \u5909\u5f62\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u306e\u5c0f\u5150\u306e\u6700\u521d\u306e\u5831\u544a\u3002 \u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002 \u3066\u3093\u304b\u3093\u7814\u7a762019;158:106223<br>\n<a name=\"reference16\"><\/a>16 Roberts AE, Allanson JE, Tartaglia M, Gelb BD. \u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3002 Lancet 2013;381(9863):333-342<br>\n<a name=\"reference17\"><\/a>17 Romain DR, Cairney H, Stewart D, et al. 7\u756a\u67d3\u8272\u4f53\u306e\u307e\u308c\u306a\u69cb\u9020\u7684\u518d\u7de8\u6210\u306b\u3088\u308b7q\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u306e3\u4f8b\u3002 J Med Genet 1990;27(02):109-113<br>\n<a name=\"reference18\"><\/a>18 Scelsa B, Bedeschi FM, Guerneri S, Larta F, Introvini P. Partial trisomy of 7q: \u75c7\u4f8b\u5831\u544a\u3068\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002 J Child Neurol 2008;23(05):572\u2013579<br>\n<a name=\"reference19\"><\/a>19 Schubbert S, Shannon K, Bollag G. \u767a\u9054\u969c\u5bb3\u304a\u3088\u3073\u764c\u306b\u304a\u3051\u308b\u9ad8\u6d3b\u6027Ras.Nat Rev Cancer 2007;7(04):295-308<br>\n<a name=\"reference20\"><\/a>20 Serville F, Broustet A, Sandler B, Bourdeau MJ, LeloupM. \u30c8\u30ea\u30bd\u30df\u30fc7q\u30d1\u30fc\u30c6\u30a3\u30bb\u30eb Ann Genet 1975;18(01):67-70<br>\n<a name=\"reference21\"><\/a>21 Verma RS, Conte RA, Pitter JH. \u7b2c7\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u30d0\u30f3\u30c9\u306e\u7e26\u5217\u91cd\u8907(\u4e8c\u91cd\u8907(7)(q36-qter))\u3002 J Med Genet 1992;29(05):344-345<br>\n<a name=\"reference22\"><\/a>22 Weimer J, Heidemann S, von Kaisenberg CS, et al. 7\u756a\u67d3\u8272\u4f53\u30019\u756a\u67d3\u8272\u4f53\u300110\u756a\u67d3\u8272\u4f53\u304c\u95a2\u4e0e\u3059\u308b\u8907\u96d1\u306a\u5bb6\u65cf\u6027\u518d\u914d\u5217\u306e\u7d50\u679c\u30017q21.2-31.31\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u5358\u96e2\u3055\u308c\u305f\u3002 Mol Cytogenet 2011;4:28<\/p>\n\n\n\n    <a href=\"\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5e0c\u5c11\u306a\u5e38\u67d3\u8272\u4f53\u7570\u5e38\u3084\u30a2\u30f3\u30d0\u30e9\u30f3\u30b9\u306a\u69cb\u9020\u67d3\u8272\u4f53\u7570\u5e38\u306b\u5bfe\u3059\u308b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u5229\u7528\u306b\u3064\u3044\u3066\u306e\u5831\u544a <\/div>\n          <div class=\"blog-card-excerpt\">\u5e0c\u5c11\u306a\u5e38\u67d3\u8272\u4f53\u7570\u5e38\u3084\u30a2\u30f3\u30d0\u30e9\u30f3\u30b9\u306a\u69cb\u9020\u67d3\u8272\u4f53\u7570\u5e38\u306b\u5bfe\u3059\u308b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u5229\u7528\u306b\u3064\u3044\u3066\u306e\u5831\u544a\u3067\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u30a2\u30ec\u30c3\u30b5\u30f3\u30c9\u30e9\u30fb\u30c7\u30a3\u30fb\u30ce\u30fc\u30e91\u3001 \u30b8\u30a7\u30eb&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[74,43,49],"class_list":["post-18180","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-duplication-syndrome","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18180","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\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=18180"}],"version-history":[{"count":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18180\/revisions"}],"predecessor-version":[{"id":109679,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18180\/revisions\/109679"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=18180"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=18180"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=18180"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}