{"id":17901,"date":"2021-10-11T10:30:03","date_gmt":"2021-10-11T01:30:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=17901"},"modified":"2025-08-11T12:50:42","modified_gmt":"2025-08-11T03:50:42","slug":"7q21-3-31-1deletion","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/","title":{"rendered":"\u91cd\u5ea6\u306e\u7dd1\u5185\u969c\u3092\u542b\u3080\u591a\u767a\u6027\u5148\u5929\u7570\u5e38\u306e\u5973\u5150\u306b\u304a\u3051\u308bCGH\u2010SNP\u30a2\u30ec\u30a4\u306b\u3088\u308bde novo 7q21.3q31.1\u6b20\u5931\u306e\u6982\u8981\u8aac\u660e\u3010\u8ad6\u6587\u3011"},"content":{"rendered":"\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<p>L. Mart\u00ednez-Jacobo <sup>a<\/sup> C. C\u00f3rdova-Fletes <sup>a, b<\/sup> R. Ortiz-L\u00f3pez <sup>a, b<\/sup> F. Rivas <sup>c<\/sup>C. Saucedo-Carrasco <sup>d<\/sup> A. Rojas-Mart\u00ednez <sup>a, b<\/sup><\/p>\n\n\n\n<p><sup>a \u533b\u5b66\u90e8\u751f\u5316\u5b66\u30fb\u5206\u5b50\u533b\u5b66\u79d1\u3001b \u5206\u5b50\u751f\u7269\u5b66\u30e6\u30cb\u30c3\u30c8\u3001 \u30b2\u30ce\u30df\u30af\u30b9\u3068\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3001 \u30e2\u30f3\u30c6\u30ec\u30fc\u306e\u30cc\u30a8\u30dc\u30ec\u30aa\u30f3\u81ea\u6cbb\u5927\u5b66\u5065\u5eb7\u79d1\u5b66\u7814\u7a76\u958b\u767a\u30bb\u30f3\u30bf\u30fc\u3001 c \u30aa\u30af\u30b7\u30c7\u30f3\u30c6\u7dcf\u5408\u75c5\u9662\u3001\u30cf\u30ea\u30b9\u30b3\u5dde\u4fdd\u5065\u7701\u3001\u30b0\u30a2\u30c0\u30e9\u30cf\u30e9\u4e8b\u52d9\u5c40\u3001\u304a\u3088\u3073 d \u30d7\u30e9\u30a4\u30d9\u30fc\u30c8\u30aa\u30d5\u30a3\u30b9\u3001\u5c0f\u5150\u79d1\u3001\u30b5\u30f3\u30eb\u30a4\u30b9\u30dd\u30c8\u30b7\u3001\u30e1\u30ad\u30b7\u30b3<\/sup><\/p>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\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-3'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89\" >\u30ad\u30fc\u30ef\u30fc\u30c9<\/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\/7q21-3-31-1deletion\/#%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-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/#%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" 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class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/#%E8%A1%A81_7q21q32%E5%86%85%E3%81%A7%E5%A0%B1%E5%91%8A%E3%81%95%E3%82%8C%E3%81%9F%E6%AC%A0%E5%A4%B1%E7%97%87%E4%BE%8B%E3%81%8B%E3%82%89%E3%81%AE%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%A7%E3%81%82%E3%82%8B%E3%81%8C%E3%80%817q213q311%E9%A0%98%E5%9F%9F%E3%81%A8%E6%98%8E%E3%82%89%E3%81%8B%E3%81%AB%E9%87%8D%E8%A4%87%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B\" >\u88681. 7q21q32\u5185\u3067\u5831\u544a\u3055\u308c\u305f\u6b20\u5931\u75c7\u4f8b\u304b\u3089\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3067\u3042\u308b\u304c\u30017q21.3q31.1\u9818\u57df\u3068\u660e\u3089\u304b\u306b\u91cd\u8907\u3057\u3066\u3044\u308b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/#%E8%A1%A82_7q213q311%E3%81%AE%E6%AC%A0%E5%A4%B1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AF%E3%80%81%E4%BB%96%E3%81%AE%E9%A1%9E%E4%BC%BC%E3%81%AE%E6%AC%A0%E5%A4%B1%E7%97%87%E4%BE%8B%E3%81%A7%E3%81%BF%E3%82%89%E3%82%8C%E3%82%8B%E3%81%84%E3%81%8F%E3%81%A4%E3%81%8B%E3%81%AE%E9%A0%BB%E7%B9%81%E3%81%AA%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%AB%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E3%81%82%E3%82%8B\" >\u88682. 7q21.3q31.1\u306e\u6b20\u5931\u907a\u4f1d\u5b50\u306f\u3001\u4ed6\u306e\u985e\u4f3c\u306e\u6b20\u5931\u75c7\u4f8b\u3067\u307f\u3089\u308c\u308b\u3044\u304f\u3064\u304b\u306e\u983b\u7e41\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/#%E8%AC%9D%E8%BE%9E\" >\u8b1d\u8f9e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/#KARGER\" >KARGER<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h3 class=\"wp-block-heading\" id=\"\u30ad\u30fc\u30ef\u30fc\u30c9\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a2\u30ec\u30a4CGH \u30fb \u5019\u88dc\u907a\u4f1d\u5b50 \u30fb Delineation del(7q) \u30fb \u88c2\u624b\u88c2\u8db3\u9818\u57df<\/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<h3 class=\"wp-block-heading\" id=\"\u8981\u7d04\"><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>\u672c\u7814\u7a76\u3067\u306f\u3001G\u2010\u30d0\u30f3\u30c7\u30a3\u30f3\u30b0\u304a\u3088\u3073CGH\u2010SNP\u30a2\u30ec\u30a4\u306b\u3088\u308a\u6e2c\u5b9a\u3057\u305f7q21.3q31.1\u306e\u751f\u307e\u308c\u3064\u304d\u306e\u65b0\u3057\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306e\u5973\u6027\u60a3\u8005\u3092\u63d0\u793a\u3059\u308b\u3002 \u60a3\u8005\u306f\u3001\u7cbe\u795e\u904b\u52d5\u9045\u6ede\u3001\u5148\u5929\u6027\u91cd\u5ea6\u4e21\u5074\u7dd1\u5185\u969c\u3001\u53e3\u84cb\u88c2\u3001\u304a\u3088\u3073\u5fc3\u81d3\u6b20\u640d\u306a\u3069\u306e\u7279\u5fb4\u3092\u793a\u3057\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u30a2\u30c3\u30bb\u30a4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3057\u305f12.5Mb\u9818\u57df\u3092\u3001\u6307\u3084\u3064\u307e\u5148\u306e\u5947\u5f62\u306b\u95a2\u9023\u304c\u3042\u308b\u9818\u57df\u306e\u7d0488kb\u4e0b\u6d41\u306b\u793a\u3057\u305f;\u5f93\u3063\u3066\u3001\u60a3\u8005\u306e\u6700\u7d42\u6838\u578b\u306f\u300146,XX.arr 7q21.3q31.1(96,742,140\uff5e109,246,085)\u00d71dn\u3067\u3042\u3063\u305f\u3002 \u3053\u306e\u5973\u5150\u306f\u3001\u5148\u5929\u6027\u7dd1\u5185\u969c\u304a\u3088\u30737q21.3q31.1\u9818\u57df\u3092\u5305\u542b\u307e\u305f\u306f\u91cd\u8907\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u793a\u3057\u3001\u3053\u306e\u3088\u3046\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u5ea7\u307e\u305f\u306f\u907a\u4f1d\u5b50\u5ea7\u306e\u5b58\u5728\u3092\u78ba\u8a8d\u3059\u308b\u3001\u3053\u308c\u307e\u3067\u306b\u8a18\u8f09\u3055\u308c\u305f4\u756a\u76ee\u306e\u60a3\u8005\u3092\u8868\u3059\u3002 \u8457\u8005\u3089\u306e\u7d50\u679c\u306b\u3088\u308c\u3070\u30017q\u4e2d\u9593<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u7d9a\u767a\u3059\u308b\u773c\u6b20\u640d\u3078\u306e\u50be\u5411\u306f\u3001TAC1\u3001HBP1\u3001\u304a\u3088\u3073\u30c1\u30c8\u30af\u30ed\u30fc\u30e0P450\u907a\u4f1d\u5b50\u306e\u5c0f\u3055\u306a\u30af\u30e9\u30b9\u30bf\u30fc(\u30b5\u30d6\u30d5\u30a1\u30df\u30ea\u30fc3A)\u306e\u540c\u6642<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u3053\u306e\u7d50\u8ad6\u306f\u3001\u6a5f\u80fd\u7684\u5f79\u5272\u3068\u767a\u73fe\u90e8\u4f4d\u306b\u3088\u3063\u3066\u88cf\u4ed8\u3051\u3089\u308c\u3066\u3044\u308b\u3002\u307e\u305f\u3001TAC1\u306f\u7dd1\u5185\u969c\u306b\u95a2\u9023\u3059\u308b\u5909\u7570\u3092\u6709\u3059\u308bMYOC\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7d4c\u8def\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u305f\u3081\u3067\u3042\u308b\u3002 \u3055\u3089\u306b\u3001\u3053\u306e\u5973\u5150\u304c7q21q32\u5185\u306e\u591a\u69d8\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u95a2\u9023\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u8868\u73fe\u578b\u3092\u81e8\u5e8a\u7684\u306b\u60f3\u8d77\u3055\u305b\u308b\u3053\u3068\u3092\u8003\u3048\u308b\u3068\u3001\u6211\u3005\u306e\u7d50\u679c\u304a\u3088\u3073\u89b3\u5bdf\u306f\u30017q21.3q31.1\u306b\u91cd\u8907\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\/\u8868\u73fe\u578b\u306e\u907a\u4f1d\u5b50\u542b\u91cf\u306e\u4e00\u822c\u7684\u306a\u6982\u89b3\u3092\u63d0\u4f9b\u3057\u3001CUX1\u907a\u4f1d\u5b50\u304a\u3088\u3073DLX5\u304b\u3089\u4e0b\u6d41\u306e\u6f5c\u5728\u7684\u8abf\u7bc0\u30a8\u30ec\u30e1\u30f3\u30c8\u3092\u542b\u3080DLX\u907a\u4f1d\u5b50\u3088\u308a\u9060\u4f4d\u306e\u5ea7\u4f4d\u304c\u3001\u6307\u3084\u3064\u307e\u5148\u306e\u5947\u5f62\u3068\u306f\u7121\u95a2\u4fc2\u3067\u3042\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3059\u308b\u3002<\/p>\n\n\n\n<p class=\"has-text-align-right\">\u8457\u4f5c\u6a29 2013 S. Karger AG, Basel<\/p>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\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<h3 class=\"wp-block-heading\" id=\"\u306f\u3058\u3081\u306b\"><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\/\">\u5148\u5929\u60277q\u6b20\u5931<\/a>\u306f\u304b\u306a\u308a\u4e00\u822c\u7684\u3067\u3042\u308b\u304c\u3001\u4e0d\u5747\u4e00\u3067\u3042\u308b\u3002 \u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u5168\u4f53\u3068\u3057\u30667q(DECIPHER\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)\u3092\u542b\u307f\u3001\u901a\u5e38\u3001\u8fd1\u4f4d(q11\u219221)\u3001\u4e2d\u9593(q21\u219231\/32)\u304a\u3088\u3073\u672b\u7aef(q32\u2192qter)\u306b\u5206\u985e\u3055\u308c\u308b[\u30ae\u30d6\u30bd\u30f3\u4ed6\u30011982\u3001\u30e4\u30f3\u30b0\u4ed6\u30011984\u3001\u30c1\u30e7\u30f3\u4ed6\u30012008]\u3002<\/p>\n\n\n\n<p>L.M.-J.\u3068C.C.-F.\u306f\u3053\u306e\u7814\u7a76\u306b\u540c\u7b49\u306b\u8ca2\u732e\u3057\u305f\u30027q21q32\u30bb\u30b0\u30e1\u30f3\u30c8\u5185\u306e\u591a\u69d8\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u3001\u3057\u3070\u3057\u3070\u3001\u6307\u3084\u3064\u307e\u5148\u306e\u5947\u5f62\u304a\u3088\u3073\u8907\u6570\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u4f8b\u3048\u3070\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\/\u767a\u9054\u9045\u5ef6\u3001\u8033\/\u8074\u899a\u7570\u5e38\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u6442\u98df\u969c\u5bb3\u3001\u7570\u5e38\u306a\u557c\u6ce3\u3001\u5c0f\u982d\u75c7\u3001\u5c0f\u984e\u75c7\u3001\u5fc3\u81d3\u304a\u3088\u3073\u53e3\u84cb\u6b20\u640d\u3001\u518d\u767a\u6027\u611f\u67d3\u3001\u7570\u5e38\u306a\u624b\u638c\u3057\u308f\u3001\u304a\u3088\u3073\u773c\u306e\u7570\u5e38\u3068\u95a2\u9023\u3057\u3066\u3044\u308b[\u30e4\u30f3\u30b0\u4ed6\u30011984\u3001\u30ea\u30d3\u30a8\u30e9\u4ed6\u30011991\u3001Scherer\u4ed6\u30011994\u3001\u30e2\u30f3\u30c8\u30b4\u30e1\u30ea\u30fc\u4ed6\u30012000\u3001Bernardini\u4ed6\u30012008\u3001\u30c1\u30e7\u30f3\u4ed6\u3001 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u9818\u57df\u306e\u898b\u304b\u3051\u4e0a\u306e\u91cd\u8907\u3068\u5171\u306b\u3053\u306e\u8868\u73fe\u578b\u306e\u4e00\u8cab\u6027\u306f\u3001\u5b9f\u969b\u306b\u306f\u8a8d\u8b58\u53ef\u80fd\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3092\u8868\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b[Fagan\u4ed6 1989]\u3002 \u672c\u7a3f\u3067\u306f\u3001\u4e2d\u9593(q21\u219231\/32)<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u95a2\u9023\u3059\u308b\u773c\u306e\u8868\u73fe\u578b\u306e\u30de\u30c3\u30d4\u30f3\u30b0\u3092\u7cbe\u7dfb\u5316\u3057\u3001\u3055\u3089\u306a\u308b\u6d1e\u5bdf\u3092\u63d0\u4f9b\u3059\u308b\u305f\u3081\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q21.3q31.1\u6b20\u5931<\/a>\u304a\u3088\u3073\u5148\u5929\u6027\u91cd\u5ea6\u7dd1\u5185\u969c(\u6307\u3084\u3064\u307e\u5148\u306e\u5947\u5f62\u3092\u4f34\u308f\u306a\u3044)\u3092\u6709\u3059\u308b\u5973\u5150\u306b\u3064\u3044\u3066\u5831\u544a\u3059\u308b\u3002<\/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<h3 class=\"wp-block-heading\" id=\"\u60a3\u8005\u8a18\u8ff0\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%85%E8%A8%98%E8%BF%B0\"><\/span>\u60a3\u8005\u8a18\u8ff0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u60a3\u8005\u306f1\u6b73\u306e\u5973\u306e\u5b50\u3067\uff0c\u8840\u7e01\u95a2\u4fc2\u306e\u306a\u3044\u4e21\u89aa\u304b\u3089\u751f\u307e\u308c\u305f2\u756a\u76ee\u306e\u5b50\u4f9b\u3067\u3042\u308b\u3002\u5bb6\u65cf\u6b74\u306b\u306f\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u3002 \u80ce\u5150\u767a\u80b2\u9045\u5ef6\u3001\u77ed\u5927\u817f\u9aa8\u304a\u3088\u3073\u80ce\u76e4\u306e\u77f3\u7070\u5316\u304c\u598a\u5a20\u5f8c\u671f\u306b\u691c\u51fa\u3055\u308c\u3001\u5f7c\u5973\u306f\u80ce\u5150\u30ea\u30b9\u30af\u306e\u5897\u52a0\u306b\u3088\u308a\u598a\u5a2035\u9031\u306b\u5e1d\u738b\u5207\u958b\u306b\u3088\u308a\u51fa\u751f\u3057\u305f\u3002 \u51fa\u751f\u6642\u4f53\u91cd\u306f2,300g(&lt;3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3001\u8eab\u9577\u306f43cm(&lt;3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3067\u3042\u308a\u3001\u8a00\u53ca\u3055\u308c\u3066\u3044\u305f\u306e\u306f\u30a2\u30d7\u30ac\u30fc\u30b9\u30b3\u30a2\uff18\u70b9\uff0810\u70b9\u6e80\u70b9\u4e2d\uff09\u306e\u307f\u3067\u3042\u3063\u305f\u3002\u5148\u5929\u6027\u7dd1\u5185\u969c\u306f2\u56de\u5225\u3005\u306b\u6d41\u51fa\u8def\u518d\u5efa\u8853\uff08\u30c8\u30e9\u30d9\u30af\u30ed\u30c8\u30df\u30fc\u3001\u7dda\u7dad\u67f1\u5e2f\u5207\u9664\u8853\uff09\u306b\u3088\u308a\u8a3a\u65ad\u3055\u308c\u3001\u6cbb\u7642\u3055\u308c\u305f\u3002 \u60a3\u8005\u306f\u3044\u307e\u3060\u306b\u9ad8\u773c\u5727\u306e\u307e\u307e\u3067\u3042\u308b\u3002 \u982d\u90e8MRI\u3067\u306f\u3001\u30af\u30e2\u819c\u4e0b\u6c34\u816b\u3001\u9ac4\u9798\u5f62\u6210\u904e\u7a0b\u306e\u5909\u5316\u3001\u4e21\u5074\u8996\u795e\u7d4c\u6d6e\u816b\u304c\u307f\u3089\u308c\u305f\u3002 7\u304b\u6708\u9f62\u6642\u3001\u5f7c\u5973\u306e\u4f53\u91cd\u306f4,300g(10\uff5e25\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3067\u3001\u8eab\u9577\u306f57.3cm(&lt;3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3067\u3042\u3063\u305f\u3002 \u5f7c\u5973\u306f\u5927\u304d\u306a\u773c\u3001\u9752\u3044\u5f37\u819c\u3001\u5927\u6cc9\u9580\u3001\u5c0f\u6cc9\u9580\u306e\u958b\u5927\u3001\u7a81\u51fa\u3057\u305f\u7709\u90e8\u3001\u904e\u5270\u306b\u6298\u308c\u8fbc\u3093\u3060\u8033\u8f2a\u3092\u4f34\u3046\u4f4e\u4f4d\u8033\u4ecb\u3001\u5916\u5074\u306b\u6319\u4e0a\u3057\u305f\u773c\u77bc\u88c2\uff08\u4e0a\u304c\u308a\u76ee\uff09\u3001\u660e\u3089\u304b\u306a\u773c\u89d2\u9694\u96e2\u3001\u5e83\u3044\u9f3b\u5c16\u3001\u9f3b\u7ffc\u306e\u767a\u80b2\u4e0d\u5168\u3001\u9f3b\u7ffc\u306e\u4f4e\u5f62\u6210\u3001\u77ed\u3044\u9f3b\u67f1\u3001\u4e21\u5074\u306e\u7247\u5074\u624b\u638c\u88c2\u3001\u4e21\u5074\u7b2c5\u6307\u5c16\u90e8\u3092\u5448\u3057\u305f(\u56f31A)\u30fc\u30fc\u30fc\uff1e\u9f3b\u5e95\u3068\u6b63\u4e2d\u7dda\u4e0a\u5507\u7e01\u304c\u96e2\u308c\u3066\u3044\u308b\u3001\u53e3\u5507\u304c\u8584\u3044\u3001\u4e8c\u91cd\u5f13\u5f62\u306e\u4e0a\u304f\u3061\u3073\u308b\uff08\u7dda\uff09\u3001\u8edf\u53e3\u84cb\u88c2\u3001\u5c0f\u984e\u75c7\u3001\u4e21\u5074\u306e\u733f\u7dda\u3001\u5074\u65b9\u306b\u5f4e\u66f2\u3057\u3066\u3044\u308b\u4e21\u5074\u7b2c5\u6307\u5c16\u90e8\u304c\u307f\u3089\u308c\u305f(\u56f31A) \u307e\u305f\u3001\u5375\u5186\u5b54\u958b\u5b58\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u3001\u4e09\u5c16\u5f01\u9006\u6d41\u3092\u8a8d\u3081\u305f\u3002\u6e80\uff11\u6b73\u6642\u3001\u981a\u5b9a\u3057\u3066\u3044\u306a\u3044\u3002&nbsp; \u8074\u899a\u523a\u6fc0\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u306f\u5f31\u3044\u304c\u3001\u5f7c\u5973\u306f\u5149\u523a\u6fc0\u306b\u5f93\u3046\u3002 \u6b6f\u306e\u767a\u9054\u306f\u306a\u304f\u3001\u6ce3\u304d\u58f0\u3082\u5f31\u304f\u3001\u4f53\u91cd\u3001\u8eab\u9577\u3001\u982d\u90e8\u524d\u5f8c\u5f84\u5468\u56f2 \u306f\u305d\u308c\u305e\u308c5,500g(3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u672a\u6e80)\u300167.5cm(&lt;3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u300142cm(&lt;3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3067\u3042\u3063\u305f\u3002 \u773c\u79d1\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u773c\u7403\u7a81\u51fa\u3001\u773c\u5727\u4e0a\u6607\u3001\u9752\u8272\u5f37\u819c\u3001\u89d2\u819c\u6df7\u6fc1\u3092\u4f34\u3046\u89d2\u819c\u6d6e\u816b\u3092\u7279\u5fb4\u3068\u3059\u308b\u4e21\u5074\u6027\u306e\u539f\u767a\u6027\u5148\u5929\u6027\u7dd1\u5185\u969c\u304c\u307f\u3089\u308c\u305f\u3002 \u8679\u5f69\u3092\u542b\u3080\u30d6\u30c9\u30a6\u819c\u69cb\u9020\u306f\u3001\u660e\u3089\u304b\u306b\u6b63\u5e38\u3067\u3042\u3063\u305f\u304c\u3001\u8679\u5f69\u4e0a\u306b\u7740\u5e8a\u3057\u3066\u8679\u5f69\u306e\u8840\u7ba1\u304b\u3089\u8840\u6d41\u3092\u53d7\u3051\u3066\u3044\u308b\u304b\u306f\u308f\u304b\u3089\u306a\u304b\u3063\u305f\u3002 \u73fe\u5728\u3001\u60a3\u8005\u306f\u983b\u56de\u306e\u547c\u5438\u5668\u611f\u67d3\u75c7\u7f79\u60a3\u304b\u3089\u56de\u5fa9\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u6750\u6599\u304a\u3088\u3073\u65b9\u6cd5\"><span class=\"ez-toc-section\" id=\"%E6%9D%90%E6%96%99%E3%81%8A%E3%82%88%E3%81%B3%E6%96%B9%E6%B3%95\"><\/span>\u6750\u6599\u304a\u3088\u3073\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\u5206\u6790<\/strong><br>\u60a3\u8005\u3068\u305d\u306e\u4e21\u89aa\u306e\u6700\u521d\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u5206\u6790\u306f\u300172\u6642\u9593\u306e\u30ea\u30f3\u30d1\u7403\u57f9\u990a\u304b\u3089\u5f97\u305fGTG\u30d0\u30f3\u30c9\u4e2d\u671f\u67d3\u8272\u4f53\u3067\u884c\u3063\u305f\u3002 \u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30fb\u30b3\u30f3\u30bb\u30f3\u30c8\u306e\u4e0b\u306b\u60a3\u8005\u304a\u3088\u3073\u4e21\u89aa\u304b\u3089\u63a1\u53d6\u3057\u305f\u3055\u3089\u306a\u308b\u8840\u6db2\u30b5\u30f3\u30d7\u30eb\u3092\u7528\u3044\u3066\u3001\u5206\u5b50\u7814\u7a76\u3092\u5b9f\u65bd\u3057\u305f\u3002<\/p>\n\n\n\n<p><strong>\u30a2\u30ec\u30a4CGH<\/strong><br>\u6700\u521d\u306b\u3001\u60a3\u8005\u3068\u305d\u306e\u4e21\u89aa\u304b\u3089\u306e\u30b2\u30ce\u30e0DNA\u3092Qiagen Gentra\u00ae Puregene Blood core Kit\u3092\u7528\u3044\u30663ml\u306e\u672b\u68a2\u8840\u304b\u3089\u5f97\u305f\u3002 \u4e2d\u5bc6\u5ea6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5206\u6790\u306f\u3001Agilent SurePrint G3 Hmn CGH+SNP 4x180K<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u30ad\u30c3\u30c8(\u4e2d\u592e\u502425kb\u306e\u9593\u9694\u3092\u6709\u3059\u308b\u7d04120,000\u500b\u306eCGH\u30d7\u30ed\u30fc\u30d6\u304a\u3088\u307360,000\u500b\u306eSNP\u30d7\u30ed\u30fc\u30d6\u3092\u542b\u3080)\u3092\u7528\u3044\u3066\u5b9f\u65bd\u3057\u305f\u3002 \u7c21\u5358\u306b\u8aac\u660e\u3059\u308b\u3068\u3001\u60a3\u8005\u3068\u305d\u306e\u4e21\u89aa\u3001\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u30de\u30c3\u30c1\u3055\u305b\u305f\u5bfe\u7167\u7531\u6765\u306e\u30b2\u30ce\u30e0DNA(\u7d041mg)\u3092\u300137\u2103\u30672\u6642\u9593\u3001AluI\u304a\u3088\u3073RsaI\u5236\u9650\u9175\u7d20(Promega, Madison, Wisc, USA)\u3067\u6d88\u5316\u3057\u3001\u6d88\u5316\u3055\u308c\u305f\u751f\u6210\u7269\u3092\u3001Sure\u30bf\u30b0DNA\u6a19\u8b58\u30ad\u30c3\u30c8(Agilent Technologies)\u3092\u7528\u3044\u3066Cy3-dU \u6a19\u8b58\u3055\u308c\u305f\u751f\u6210\u7269\u3092\u7cbe\u88fd\u3057\u3001\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30ba\u3055\u305b\u3001Agilent\u30d7\u30ed\u30c8\u30b3\u30eb\u306b\u5f93\u3063\u3066\u6d17\u6d44\u3057\u305f\u3002 \u5404\u30b9\u30e9\u30a4\u30c9\u3092Nimblegen MS 200\u30b9\u30ad\u30e3\u30ca\u30fc(Roche)\u4e0a\u3067\u30b9\u30ad\u30e3\u30f3\u3057\u3001\u5f97\u3089\u308c\u305f\u753b\u50cf\u3092\u753b\u50cf\u5909\u63db\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u3067\u5909\u63db\u3057\u3001Feature Extraction\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2(Agilent\u6280\u8853)\u3067\u753b\u50cf\u5316\u3057\u305f\u3002 \u7d50\u679c\u306f\u3001Agilent Cytogenomics\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2v.2.5\u306b\u3088\u308bADM-2\u53ce\u5dee\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u3092\u7528\u3044\u3066\u3001\u30c7\u30d5\u30a9\u30eb\u30c8\u5206\u6790\u6cd5-CGH+SNP v2\u3092\u7528\u3044\u3066\u5206\u6790\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u7d50\u679c\"><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>\u60a3\u8005\u306eG\u30d0\u30f3\u30c9\u6838\u578b\u306f46,XX,del(7)(q22q22)dn\u3067\u3042\u308a\u3001\u89aa\u6838\u578b\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 \u5bfe\u5fdc\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u30a2\u30c3\u30bb\u30a4\u306f\u3001500\u306e\u30de\u30fc\u30ab\u30fc\u304a\u3088\u3073229\u306e\u907a\u4f1d\u5b50(miRNA\u304a\u3088\u3073\u4eee\u60f3\u86cb\u767d\u8cea\u3092\u542b\u3080)\u3092\u5305\u542b\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>12.5-Mb\u9818\u57df(\u30b2\u30ce\u30e0\u4f4d\u7f6e96,742,140-109,246,085)\u3092\u793a\u3057\u3001ACN9\u306f\u3088\u308a\u8fd1\u4f4d\u3067\u3042\u308a\u3001C7orf66\u306f\u3088\u308a\u9060\u4f4d\u3067\u3042\u3063\u305f(GRCh37\/hg19);\u5f93\u3063\u3066\u30017q21.3q31.1\u306b\u5bfe\u3059\u308b\u90e8\u5206\u7684\u30e2\u30ce\u30bd\u30df \u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u6307\u5f62\u8cea\u306e\u30aa\u30ea\u30b8\u30ca\u30eb\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u9818\u57df[Scherer\u4ed6\u30011994]\u3068\u91cd\u306a\u308a\u5408\u3063\u3066\u3044\u308b\u304c\u3001\u3053\u306e\u3088\u3046\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306e\u4e3b\u8981\u5019\u88dc\u3067\u3042\u308bDLX5\u304a\u3088\u3073DLX6\u907a\u4f1d\u5b50\u306f\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u3002 \u4ed6\u306b\u30b2\u30ce\u30e0\u306e\u9855\u8457\u306a\u5909\u5316\u306f\u89b3\u5bdf\u3055\u308c\u306a\u304b\u3063\u305f\u3002 \u4e21\u89aa\u304b\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306e\u7d50\u679c\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 \u60a3\u8005\u306e\u6700\u7d42\u6838\u578b\u306f46,XX.arr 7q21.3q31.1(96,742,140\uff5e109,246,085)\u00d71dn\u3067\u3042\u3063\u305f\u3002<\/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<h3 class=\"wp-block-heading\" id=\"\u8003\u5bdf\"><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>\u672c\u7814\u7a76\u3067\u306f\u3001q21.3q31.1\u9818\u57df\u3092\u542b\u3080\u307e\u305f\u306f\u91cd\u8907\u3059\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u65b0\u3057\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u4f34\u3063\u305f\u5148\u5929\u6027\u7dd1\u5185\u969c\u306e\u4e16\u754c\u7b2c4\u4f8b\u76ee\u306e\u60a3\u8005\u3092\u5831\u544a\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"722\" height=\"376\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-31-a.jpg\" alt=\"\" class=\"wp-image-17909\"\/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"722\" height=\"878\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-31-b.png\" alt=\"\" class=\"wp-image-17912\"\/><\/figure>\n\n\n\n<p><strong>\u56f31 <\/strong><br><strong>A<\/strong> \u984e\u9854\u9762\u3001\u624b\u3001\u53e3 \u60a3\u8005\u3055\u3093\u306e\u7279\u5fb4\u3002<br><strong>B<\/strong> \u30ed\u30b9\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u89e3\u6790 log 2 ratio\u3067\u793a\u3055\u308c\u305f\uff08\u30d7\u30ed\u30c3\u30c8\u3068\u7dda\uff09\u3067\u8868\u793a\u3057\u307e\u3059\u3002\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2v.2.5\u3067\u53ef\u8996\u5316\u3057\u3066\u3044\u307e\u3059\u3002<br><strong>C<\/strong> \u56f3\uff08\u30ce\u30f3\u30b9\u30b1\u30fc\u30eb \u773c\u7403\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u3068\u306a\u3044\u5834\u5408\u3068 \u773c\u7403\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u3068\u306a\u3044\u5834\u5408\u3001\u304a\u3088\u30737q21.3q31.1\u306b\u91cd\u306a\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u6b20\u5931<\/a>\u306e\u4fdd\u56e0\u8005\u3092\u793a\u3059\u30027q21.3q31.1\u306b\u91cd\u306a\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u6b20\u5931<\/a>\u306e\u4fdd\u56e0\u8005\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e \u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u307b\u3068\u3093\u3069 \u306f\u5206\u5b50\u7684\u306b\u7cbe\u7dfb\u5316\u3055\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u6211\u3005\u306f \u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u5206\u5b50\u7684\u306b\u7cbe\u7dfb\u5316\u3055\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u3082\u3068\u3082\u3068\u5272\u308a\u5f53\u3066\u3089\u308c\u3066\u3044\u305f\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8 \u3082\u3068\u3082\u3068\u5272\u308a\u5f53\u3066\u3089\u308c\u3066\u3044\u305f\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u304b\u3089\u8fd1\u4f3c\u3057\u3066\u3044\u307e\u3059\uff08\u3064\u307e\u308a\u3001\u79c1\u305f\u3061\u306f \u3064\u307e\u308a\u3001\u30b5\u30d6\u30d0\u30f3\u30c9\u3067\u306f\u306a\u304f\u3001\u30d0\u30f3\u30c9\u306e\u8fd1\u4f4d\u307e\u305f\u306f\u9060\u4f4d\u306e\u7aef\u306b \u30b5\u30d6\u30d0\u30f3\u30c9\u3067\u306f\u306a\u304f\u3001\u30d0\u30f3\u30c9\u306e\u8fd1\u4f4d\u307e\u305f\u306f\u9060\u4f4d\u306e\u7aef\u306b\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u3092\u914d\u7f6e\u3057\u3066\u3044\u307e\u3059\uff09\u3002)<br><br>\u73fe\u5728\u306e\u30b1\u30fc\u30b9\u300d\u4ee5\u4e0b\u306e\u30b1\u30fc\u30b9\u306f \u306f\u3001DECIPHER\u306e\u75c7\u4f8b\u306e\u4e2d\u3067\u3001\u4eca\u56de\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3068\u4e3b\u306b\u91cd\u306a\u308b\u3082\u306e\u3067\u3042\u308b\u3002\u73fe\u5728\u306e\u524a\u9664\u90e8\u5206\u3068\u91cd\u306a\u3063\u3066\u3044\u308b\u3002\u7e26\u306e \u9752\u3044\u7dda\u306f\u3001\u773c\u7403\u7570\u5e38\u306e\u6f5c\u5728\u7684\u6700\u5c0f\u9818\u57df\u3092\u793a\u3059\u3002\u773c\u7403\u7570\u5e38\u306e\u6f5c\u5728\u7684\u306a\u6700\u5c0f\u9818\u57df\u3092\u793a\u3059\u3002\u6700\u521d\u306e\u9752\u8272\u306e\u7dda\uff08\u5de6\uff09\u3068\u70b9\u7dda\u306e \u7dda\u306f\u3001\u6211\u3005\u306e\u75c7\u4f8b\u3068\u91cd\u306a\u308b\u9818\u57df\u3092\u793a\u3057\u3066\u3044\u308b\u3002\u3092\u793a\u3057\u3066\u3044\u308b\u3002\u7070\u8272\u306e\u7dda\u306f\u91cd\u306a\u3063\u3066\u3044\u308b\u4e00\u90e8\u306e\u9818\u57df\u3092 \u7070\u8272\u306e\u7dda\u3067\u533a\u5207\u3089\u308c\u3066\u3044\u308b\u3002* \u3053\u306e\u75c7\u4f8b\u306f \u773c\u7403\u7570\u5e38\u3082\u5916\u53cd\u6bcd\u8dbe\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u3044\u3002\u5916\u53cd\u6bcd\u8dbe\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u30027q21q31\u3067\u3042\u3063\u305f\uff09\u3002) * * \u4e0d\u6b63\u78ba\u306a\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8 (\u5916\u53cd\u6bcd\u8dbe\u306a\u3057)\u3002? = \u4e0d\u660e\u306a\u773c\u7403 \u80ce\u5150\u304c\u5256\u691c\u3055\u308c\u306a\u304b\u3063\u305f\u305f\u3081\u3001\u773c\u7403\u3078\u306e\u5f71\u97ff\u306f\u4e0d\u660e\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/japanese-mothers-aged-35-and-older\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">35\u6b73\u4ee5\u4e0a\u306e\u65e5\u672c\u4eba\u6bcd\u89aa\u306b\u5bfe\u3059\u308b\u598a\u5a20\u7b2c2\u671f\u7f8a\u6c34\u7a7f\u523a\u6642\u306e\u67d3\u8272\u4f53\u7570\u5e38\u306e\u5e74\u9f62\u7279\u7570\u7684\u767a\u751f\u7387:5484\u4f8b\u306e\u5171\u540c\u7814\u7a76 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p><strong>D<\/strong> UCSC\u30d6\u30e9\u30a6\u30b6\u306e\u30b9\u30af\u30ea\u30fc\u30f3\u30b7\u30e7\u30c3\u30c8 DECIPHER\u3068ISCA\u3067\u5831\u544a\u3055\u308c\u305f\u5168\u3066\u306e\u30a4\u30f3\u30d0\u30e9\u30f3\u30b9\u30b1\u30fc\u30b9\u304c DECIPHER\u3068ISCA\u3067\u5831\u544a\u3055\u308c\u305f7q21.3q31.1\u9818\u57df\u306b\u91cd\u306a\u308b 7q21.3q31.1\u9818\u57df\u306b\u91cd\u306a\u308b\u3001DECIPHER\u3068ISCA\u3067\u5831\u544a\u3055\u308c\u305f\u3059\u3079\u3066\u306e\u30a4\u30f3\u30d0\u30e9\u30f3\u30b9\u75c7\u4f8b\u3092\u542b\u3080\u30b9\u30af\u30ea\u30fc\u30f3\u30b7\u30e7\u30c3\u30c8\uff08\u8d64\uff1d\u6b20\u5931\u3002\u9752\u306f\u5897\u5e45\uff09\u3002) ISCA\u306e2\u3064\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a> (ID\u304cnssv578163\u3068nssv582318\u3067\u3042\u308b\u3002) 7q21.3q31.1\u9818\u57df\u306b\u5b8c\u5168\u306b\u307e\u305f\u304c\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u304c \u5b8c\u5168\u306b7q21.3q31.1\u306b\u307e\u305f\u304c\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f 7\u756a\u67d3\u8272\u4f53\u306e\u30e2\u30ce\u30bd\u30df\u30fc\u306b\u5bfe\u5fdc\u3057\u3066\u3044\u308b\u3002<\/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<h4 class=\"wp-block-heading\" id=\"\u88681-7q21q32\u5185\u3067\u5831\u544a\u3055\u308c\u305f\u6b20\u5931\u75c7\u4f8b\u304b\u3089\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3067\u3042\u308b\u304c-7q21-3q31-1\u9818\u57df\u3068\u660e\u3089\u304b\u306b\u91cd\u8907\u3057\u3066\u3044\u308b\"><span class=\"ez-toc-section\" id=\"%E8%A1%A81_7q21q32%E5%86%85%E3%81%A7%E5%A0%B1%E5%91%8A%E3%81%95%E3%82%8C%E3%81%9F%E6%AC%A0%E5%A4%B1%E7%97%87%E4%BE%8B%E3%81%8B%E3%82%89%E3%81%AE%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%A7%E3%81%82%E3%82%8B%E3%81%8C%E3%80%817q213q311%E9%A0%98%E5%9F%9F%E3%81%A8%E6%98%8E%E3%82%89%E3%81%8B%E3%81%AB%E9%87%8D%E8%A4%87%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B\"><\/span><strong>\u88681. 7q21q32\u5185\u3067\u5831\u544a\u3055\u308c\u305f\u6b20\u5931\u75c7\u4f8b\u304b\u3089\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3067\u3042\u308b\u304c\u30017q21.3q31.1\u9818\u57df\u3068\u660e\u3089\u304b\u306b\u91cd\u8907\u3057\u3066\u3044\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<section class=\"note_table\">\n<div class=\"table-sp-scroll\">\n<table>\n<thead>\n<tr>\n<th>\u81e8\u5e8a\u7684\u7279\u5fb4<\/th><th colspan=\"18\">\u75c7\u4f8b\/\u53c2\u8003\u6587\u732e<\/th>\n<\/tr>\n<tr>\n<th><\/th><th>1<\/th><th>2<\/th><th>3<\/th><th>4<\/th><th>5<\/th><th>6<\/th><th>7<\/th><th>8<\/th><th>9<\/th><th>10<\/th><th>11<\/th><th>12<\/th><th>13<\/th><th>14<\/th><th>15*<\/th><th>16<\/th><th>17<\/th><th>\u4eca\u56de\u306e\u4e8b\u4f8b<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr><td colspan=\"19\">\u4e00\u822c<\/td><\/tr>\n<tr><td>\u4f4e\u51fa\u751f\u4f53\u91cd\u5150<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>ID\/DD<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+a<\/td><td>+<\/td><td>+<\/td><td>+?<\/td><td>+b<\/td><td>+<\/td><td>+<\/td><td>+<\/td><\/tr>\n<tr><td colspan=\"19\">\u767a\u80b2\u9045\u5ef6\/\u4f4e\u8eab\u9577<\/td><\/tr>\n<tr><td>\u4f38\u9577<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u8a00\u8a9e\u9045\u5ef6<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>?<\/td><td>+<\/td><\/tr>\n<tr><td>\u6027\u4f4e\u8840\u5727<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u8133\u6ce2\u7570\u5e38\/\u767a\u4f5c<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u518d\u767a\u6027\u611f\u67d3\u75c7<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td colspan=\"19\">\u982d\u90e8\/\u773c\u7aa9<\/td><\/tr>\n<tr><td>\u5468\u56f2\u306e\u5e83\u7bc4\u56f2\/\u9855\u8457\u306a\u984d<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u5c0f\u982d\u75c7<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u4e0a\u5411\u304d\u306e\u50be\u659c<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u8868\u60c5\u7b4b\u306e\u3072\u3060<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>NA<\/td><\/tr>\n<tr><td>\u9686\u8d77\u3057\u305f\u7709\u6bdb<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>Hypertelorism\/\u773c\u89d2\u958b\u96e2<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013?<\/td><td>+<\/td><td>apparently<\/td><\/tr>\n<tr><td colspan=\"19\">\u8033\u30fb\u8074\u529b<\/td><\/tr>\n<tr><td>Low set<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><\/tr>\n<tr><td>\u5947\u5f62<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u8074\u899a\u969c\u5bb3\u30fb\u8074\u529b\u969c\u5bb3<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>apparently<\/td><\/tr>\n<tr><td colspan=\"19\">\u9f3b<\/td><\/tr>\n<tr><td>\u6241\u5e73\/\u5e83\u9f3b\u30d6\u30ea\u30c3\u30b8<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u7403\u6839\u72b6\u306e\u9f3b\u5148<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u773c\u7403\u306e\u7570\u5e38<\/td><td>+<\/td><td>+<\/td><td>G<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>G<\/td><td>+<\/td><td>+<\/td><td>G<\/td><td>?<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>G<\/td><\/tr>\n<tr><td colspan=\"19\">\u53e3<\/td><\/tr>\n<tr><td>\u5927<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u8584\u3044\u4e0a\u5507<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>?<\/td><td>?<\/td><td>\u2013<\/td><td>?<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u9577\u3044\u4eba\u4e2d<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>apparently<\/td><\/tr>\n<tr><td>\u53e3\u84cb\u88c2\u30fb\u9ad8\u53e3\u84cb\u30fb\u72ed\u53e3\u84cb<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u5c0f\u984e\u75c7<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u9838\u90e8\u306e\u6804\u990a\u969c\u5bb3<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>mildc<\/td><\/tr>\n<tr><td colspan=\"19\">\u9996<\/td><\/tr>\n<tr><td>\u77ed\u3044<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<sup>d<\/sup><\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td colspan=\"19\">\u56db\u80a2\u30fb\u624b<\/td><\/tr>\n<tr><td>\u7b2c5\u6307\u306e\u7121\u6307\u75c7<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>mild<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><\/tr>\n<tr><td>\u5206\u88c2\u624b\u6307\/\u5206\u88c2\u8db3<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u638c\u5e95\u306e\u3057\u308f\u306e\u7570\u5e38<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td colspan=\"19\">\u5fc3\u8840\u7ba1<\/td><\/tr>\n<tr><td>ASD\/VSD<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>PDA<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u80ba\u52d5\u8108\u72ed\u7a84<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u305d\u306e\u4ed6<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<sup>e<\/sup><\/td><\/tr>\n<tr><td colspan=\"19\">\u6d88\u5316\u7ba1<\/td><\/tr>\n<tr><td>\u30d8\u30eb\u30cb\u30a2 <\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td colspan=\"19\">\u6ccc\u5c3f\u5668\u7cfb<\/td><\/tr>\n<tr><td>\u6027\u5668\u7570\u5e38<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/section>\n\n\n\n<p><sup>1<\/sup> Ayraud et al. [1976]; <sup>2<\/sup> Higginson et al. [1976]; <sup>3<\/sup> \u30c7\u30cb\u30b9\u4ed6 [1977]; <sup>4<\/sup> Hull et al. [1979]; <sup>5<\/sup> Klep-de Pater et al. [1979]; <sup>6<\/sup> Serup [1980]; <sup>7<\/sup> Abuelo and Padre-Mendoza [1982]; <sup>8<\/sup> \u30e4\u30f3\u30b0\u4ed6 [1984]; <sup>9<\/sup> Chitayat et al. [1988]; <sup>10<\/sup> Fagan et al. [1989]; <sup>11<\/sup> Franceschini et al. [1978]; <sup>12<\/sup> Tajara et al. [1989]; <sup>13<\/sup> Morey and Higgins [1990]; <sup>14<\/sup> Montgomery et al. [2000]; <sup>15<\/sup> Cheong et al. [2008]; <sup>16<\/sup> ID 253694; <sup>17<\/sup> ID 255298.<br><br>ID\/DD = <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\/\u767a\u9054\u9045\u5ef6\u3002 NA = \u5229\u7528\u3067\u304d\u306a\u3044\u3002 G = \u7dd1\u5185\u969c\u3002 ? =\u4e0d\u660e\/\u4e0d\u6b63\u78ba\u3002<br><br>22\u9031\u76ee\u306b\u51fa\u7523\u3057\u305f\u80ce\u5150\u3067\u3001\u3053\u308c\u4ee5\u4e0a\u306e\u8a55\u4fa1\u306f\u3067\u304d\u306a\u3044\u3002 <sup>a<\/sup> \u79c1\u305f\u3061\u304c\u63d0\u6848\u3057\u305f\u3082\u306e\uff08\u65e9\u671f\u6b7b\u4ea1\uff09\u3002 <sup>b<\/sup> \u8457\u8005\u304c\u63d0\u6848\u3057\u305f\u3082\u306e\uff08\u65e9\u671f\u6b7b\u4ea1\uff09\u3002 <sup>c<\/sup> \u6700\u521d\u306f\u5438\u3044\u4ed8\u304d\u304c\u60aa\u304b\u3063\u305f\u3002 <sup>d<\/sup> \u3053\u306e\u60a3\u8005\u306f\u624b\u306b\u524d\u8ef8\u591a\u6307\u75c7\u3092\u5448\u3057\u3066\u3044\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30ec\u30d3\u30e5\u30fc\u306e\u5f8c\u3001\u8457\u8005\u3089\u306e\u75c7\u4f8b\u3068\u975e\u5e38\u306b\u985e\u4f3c\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304c24\u9031\u9f62\u306e\u80ce\u5150\u3067\u5831\u544a\u3055\u308c\u3001\u53e3\u5507\u88c2\u3068\u53e3\u84cb\u88c2\u3001\u9ad8\u8272\u7d20\u75c7\u3001\u5e83\u7bc4\u306a\u9f3b\u30d6\u30ea\u30c3\u30b8\u3001\u5c0f\u984e\u75c7\u3001\u4f4e\u4f4d\u8033\u3001\u5c0f\u9670\u830e\u304a\u3088\u3073\u505c\u7559\u7cbe\u5de3\u3092\u5448\u3057\u305f[\u30c1\u30a7\u30f3\u4ed6 2013]\u3002 \u3053\u306e\u8868\u3067\u306f\u3001\u75c7\u4f8b\u306e30%\u3092\u8d85\u3048\u308b\u7279\u5fb4\u3068\u3057\u3066\u3001ID\/DD(~18\/18)\u3001\u773c\u5947\u5f62(12\/18)\u3001\u4f4e\u51fa\u751f\u4f53\u91cd(10\/18)\u3001\u8033\u5947\u5f62(10\/18)\u3001\u5fc3\u81d3\u5947\u5f62(9\/18)\u3001\u5927\u53e3(9\/18)\u3001\u6442\u98df\u969c\u5bb3(9\/18)\u3001\u4f4e\u8a2d\u5b9a\u8033(8\/18)\u3001\u767a\u80b2\u9045\u6ede\/\u4f4e\u8eab\u9577(8\/18)\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b(6\/18)\u3001\u5c0f\u982d\u75c7(6\/18)\u3001\u5c0f\u984e \u300c\u5f31\u3044\u6ce3\u304d\u58f0\u300d\u307e\u305f\u306f\u300c\u7570\u5e38\u306a\u6ce3\u304d\u58f0\u300d\u3068\u3044\u3046\u7279\u5fb4\u306f\u3001\u672c\u8868\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u304c\u3001\u672c\u8868\u3092\u542b\u3081\u3066\u7d045\u4f8b\u306e\u60a3\u8005\u306b\u8a8d\u3081\u3089\u308c\u305f\u3002<\/p>\n\n\n\n<p>(\u56f31C\u3001\u88681)\u3092\u793a\u3059\u3002 \u8457\u8005\u3089\u306e\u7d50\u679c\u306f\u3001\u3053\u306e\u9818\u57df\u3067\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u305f\u5c11\u306a\u304f\u3068\u30823\u3064\u306e\u773c\u95a2\u9023\u907a\u4f1d\u5b50\u5ea7(TAC1\u3001CYP3A43\u304a\u3088\u3073HBP1)\u306e\u5171<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304c\u7dd1\u5185\u969c\u304a\u3088\u3073\u4ed6\u306e\u773c\u306e\u7570\u5e38\u3092\u8aac\u660e\u3067\u304d\u308b\u3053\u3068\u3092\u793a\u5506\u3059\u308b\u3002<br><br>\u81e8\u5e8a\u7684\u304a\u3088\u3073\u907a\u4f1d\u7684\u306b\u4e0d\u5747\u4e00\u306a\u72b6\u614b\u3067\u3042\u308b\u7dd1\u5185\u969c\u306f\u3001\u7db2\u819c\u795e\u7d4c\u7bc0\u7d30\u80de\u306e\u55aa\u5931\u304a\u3088\u3073\u8996\u795e\u7d4c\u306e\u840e\u7e2e\u3092\u7279\u5fb4\u3068\u3059\u308b[\u30a4\u30be\u30c3\u30c6\u30a3\u4ed6 2011; Mookherjee et al., 2012]\u3002 \u773c\u5727\u4e0a\u6607\u306e\u4e3b\u306a\u81e8\u5e8a\u57fa\u6e96\u306f\u3001\u901a\u5e38\u3001\u623f\u6c34\u306b\u5bfe\u3059\u308b\u5c0f\u67f1\u7db2\u306e\u62b5\u6297\u6027\u306b\u8d77\u56e0\u3059\u308b[\u30b1\u30cd\u30c7\u30a3\u4ed6 2012]\u3002 \u5c0f\u67f1\u7db2\u306f\u89d2\u819c\u5e95\u90e8\u306e\u5468\u56f2\u306b\u4f4d\u7f6e\u3057\u3001\u623f\u6c34\u6d41\u51fa\u306e\u8abf\u7bc0\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b[\u30a4\u30be\u30c3\u30c6\u30a3\u4ed6 2011]\u3002 \u5148\u5929\u6027\u7dd1\u5185\u969c\u60a3\u8005\u3067\u306f\u3001\u5c0f\u67f1\u7db2\u306e\u5909\u5316\u304c\u983b\u7e41\u306b\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u3002 \u5148\u5929\u6027\u7dd1\u5185\u969c\u3001\u6fc1\u3063\u305f\u89d2\u819c\u3001\u539f\u767a\u958b\u653e\u9685\u89d2\u7dd1\u5185\u969c\u3001\u304a\u3088\u3073\u82e5\u5e74\u6027\u958b\u653e\u9685\u89d2\u7dd1\u5185\u969c\u306f\u7dd1\u5185\u969c\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001GLC1A\u307e\u305f\u306fMYOC(1q24.3)\u3001CYP1B1(2p22.2)\u3001\u304a\u3088\u3073CAV1\/CAV2(7q31.2)[Stoilov et al.\u30011997;Alward et al.\u30011998;Thorleifsson et al.\u30012010;\u30b1\u30cd\u30c7\u30a3\u4ed6\u30012012;<br><br>CYP1B1\u907a\u4f1d\u5b50\u306f\u4e00\u6b21\u30b3\u30f3\u30b8\u30a7\u30f3\u30c8\u3068\u9023\u9396\u3057\u3066\u3044\u308b<br><br>\u89d2\u819c\u306e\u900f\u660e\u6027\u304a\u3088\u3073\u623f\u6c34\u5206\u6ccc\u3092\u8abf\u7bc0\u3059\u308b\u30c1\u30c8\u30af\u30ed\u30fc\u30e0P450\u4f9d\u5b58\u6027\u4ee3\u8b1d\u7523\u7269\u3092\u4f34\u3046\u7dd1\u5185\u969c(OMIM 231300)\u3002 \u3055\u3089\u306b\u3001CYP1B1\u306f\u30c0\u30a6\u30f3\u30ec\u30ae\u30e5\u30ec\u30fc\u30c8\u3055\u308c\u3001\u5909\u7570MYOC\u907a\u4f1d\u5b50\u3092\u6301\u3064\u30d2\u30c8\u5c0f\u67f1\u7db2\u7d30\u80de\u306b\u304a\u3044\u3066CYP26B1\u304c\u30a2\u30c3\u30d7\u30ec\u30ae\u30e5\u30ec\u30fc\u30c8\u3055\u308c\u305f[\u30b1\u30cd\u30c7\u30a3\u4ed6\u30012012]\u3002 \u3053\u308c\u3089\u306e\u4e8b\u5b9f\u306f\u3001\u30c1\u30c8\u30af\u30ed\u30fc\u30e0P450s\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u540c\u69d8\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002 \u5b9f\u969b\u306b\u306f\u30017q22.1(CYP3A4\u3001CYP3A5\u3001CYP3A7\u3001CYP3A43)\u306b\u3042\u308b\u30c1\u30c8\u30af\u30ed\u30fc\u30e0P450\u907a\u4f1d\u5b50\u306e\u5c0f\u3055\u306a\u30af\u30e9\u30b9\u30bf\u30fc<br><br>\u5b9f\u969b\u3001\u6211\u3005\u306e\u60a3\u8005\u3067\u306f\u3001\u7dd1\u5185\u969c\u3001\u307e\u305f\u306f\u6df7\u6fc1\u89d2\u819c\u3001\u5de8\u5927\u89d2\u819c\u3001\u307e\u305f\u306f\u7570\u5e38\u77b3\u5b54\u306a\u3069\u306e\u4ed6\u306e\u773c\u306e\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q\u306e\u6b20\u5931<\/a>\u306e\u307b\u3068\u3093\u3069\u304cq22\u306b\u95a2\u4e0e\u3057\u3001\u304a\u305d\u3089\u304fCYP\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3057\u3066\u3044\u305f[Young\u4ed6\u30011984;Montgomery\u4ed6\u30012000]\u3002 \u6ce8\u76ee\u3059\u3079\u304d\u3053\u3068\u306b\u3001CYP3A43\u306f\u30d2\u30c8\u89d2\u819c\u4e0a\u76ae\u7d44\u7e54\u306b\u304a\u3044\u3066\u5dee\u6b21\u7684\u306b\u767a\u73fe\u3055\u308c\u308b\u3053\u3068\u304c\u8a8d\u3081\u3089\u308c\u305f[\u30bf\u30fc\u30ca\u30fc\u4ed6 2007]\u3002 \u4e00\u822c\u306b\u3001\u30b5\u30d6\u30d5\u30a1\u30df\u30ea\u30fc3A\u306e\u30e1\u30f3\u30d0\u30fc\u306f\u3001\u30d2\u30c8\u8679\u5f69\u3001\u6bdb\u69d8\u4f53\u304a\u3088\u3073\u89d2\u819c\u306b\u304a\u3044\u3066\u767a\u73fe\u3055\u308c\u308b\u3053\u3068\u304c\u8a8d\u3081\u3089\u308c\u305f[\u30c1\u30e3\u30f3\u4ed6\u30012008;\u30f4\u30a9\u30ed\u30c1\u30cd\u30f3\u4ed6\u30012011]\u3002 \u7dd1\u5185\u969c\u306e\u3082\u30461\u3064\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u306fTAC1\u3067\u3042\u308b\u3068\u601d\u308f\u308c\u3001\u3053\u308c\u3082\u6211\u3005\u306e\u60a3\u8005\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3057\u3066\u304a\u308a\u3001\u6700\u8fd1\u7dd1\u5185\u969c\u640d\u50b7\u306e\u751f\u7406\u5b66\u7684\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u3068\u3057\u3066\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002 TAC1\u907a\u4f1d\u5b50\u306f\u3001MYOC\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7d4c\u8def\u306b\u95a2\u9023\u3057\u3066\u3044\u305f\u3002MYOC\u907a\u4f1d\u5b50\u306f\u3001\u5c0f\u67f1\u7db2\u306b\u304a\u3051\u308b\u30b9\u30c8\u30ec\u30b9\u6761\u4ef6\u306b\u3088\u3063\u3066\u8a98\u5c0e\u3055\u308c\u308b\u7cd6\u86cb\u767d\u8cea\u3067\u3042\u308b\u3002 \u5b9f\u969b\u3001TAC1\u767a\u73fe\u3082MYOC\u7a81\u7136\u5909\u7570\u7d30\u80de\u306b\u304a\u3044\u3066\u5f37\u304f\u5909\u5316\u3057\u305f[\u30b1\u30cd\u30c7\u30a3\u4ed6 2012]\u3002 TAC1\u907a\u4f1d\u5b50(7q21.3)\u306fprecur-\u3092\u30b3\u30fc\u30c9\u3059\u308b<br><br>\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3068\u3057\u3066\u4f5c\u7528\u3059\u308b\u30db\u30eb\u30e2\u30f3\u306e\u30bd\u30fc\u30eb(UCSC\u30b2\u30ce\u30e0\u30d6\u30e9\u30a6\u30b6\u30fc)\u306f\u3001\u30d2\u30c8\u7dda\u7dad\u67f1\u5e2f\u306e\u7db2\u76ee\u69cb\u9020\u306b\u304a\u3044\u3066\u6a5f\u68b0\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b[\u30b1\u30cd\u30c7\u30a3\u4ed6 2012]\u3002<br><br>\u3053\u306e\u60a3\u8005\u3067\u3082<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3057\u3066\u3044\u308b\u5225\u306e\u907a\u4f1d\u5b50\u3001\u3059\u306a\u308f\u3061HBP1\u306f\u3001WNT\u7d4c\u8def\u306b\u95a2\u4e0e\u3057\u3001\u7db2\u819c\u3001\u89d2\u819c\u304a\u3088\u3073\u6bdb\u69d8\u4f53(EMBL-EBI\u304a\u3088\u3073GeneCards\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)\u306b\u767a\u73fe\u3059\u308b\u8ee2\u5199\u6291\u5236\u56e0\u5b50\u3067\u3042\u308b\u3002 WNT\u7d4c\u8def\u306f\u773c\u5727\u8abf\u7bc0\u306b\u95a2\u9023\u3057\u3066\u3044\u308b[\u30b1\u30cd\u30c7\u30a3\u4ed62012]\u3002 \u540c\u6642\u306b\u3001HBP1(\u9ad8\u79fb\u52d5\u5ea6\u30b0\u30eb\u30fc\u30d7\u30dc\u30c3\u30af\u30b9\u8ee2\u5199\u56e0\u5b50)\u907a\u4f1d\u5b50\u306f\u3001\u7db2\u819c\u640d\u50b7\u304a\u3088\u3073\u708e\u75c7\u30b9\u30c8\u30ec\u30b9\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u305f\u3081\u306e\u5185\u56e0\u6027\u5206\u5b50\u3067\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308bHMGB1(\u9ad8\u79fb\u52d5\u5ea6\u30b0\u30eb\u30fc\u30d7\u30dc\u30c3\u30af\u30b91\u30bf\u30f3\u30d1\u30af\u8cea)\u3068\u540c\u69d8\u3067\u3042\u308b[Lee\u4ed6\u30012012]\u3002<\/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><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">7q21q32\u6b20\u5931\u75c7<\/a>\u306e\u8868\u73fe\u578b\u306f\u591a\u5c90\u306b\u308f\u305f\u308b\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u518d\u767a\u6027\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u304c\u89b3\u5bdf\u3055\u308c\u3066\u3044\u308b\uff08\u88681\uff09\u3002\u88681\u3067\u5f97\u3089\u308c\u305f\u60c5\u5831\u306b\u3088\u308b\u3068\u3001\u5c11\u306a\u304f\u3068\u308214\u306e\u7279\u5fb4\u304c30\uff05\u4ee5\u4e0a\u306e\u983b\u5ea6\u3067\u60a3\u8005\u306b\u898b\u3089\u308c\u305f\uff08\u88681\uff09\u3002\u4f8b\u3048\u3070\u3001\u4eca\u56de\u306e\u5b50\u3069\u3082\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u9045\u5ef6\u3001\u6210\u9577\u9045\u5ef6\u3001\u982d\u84cb\u9854\u9762\u30fb\u5fc3\u81d3\u30fb\u773c\u7403\u306e\u6b20\u640d\u306a\u3069\u3001\u3053\u308c\u3089\u306e\u7279\u5fb4\u306e\u3046\u3061\u5c11\u306a\u304f\u3068\u308211\u9805\u76ee\u3092\u793a\u3057\u3066\u3044\u307e\u3057\u305f\u3002\u3055\u3089\u306b\u3001\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u89e3\u6790\u306b\u3088\u308a\u3001\u4eca\u56de\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306e\u8fd1\u4f4d\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u304cDLX5\u907a\u4f1d\u5b50\u306e\u308f\u305a\u304b88kb\u4e0b\u6d41\u306b\u3042\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002DLX5\u304a\u3088\u3073DLX6\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u306f\u5916\u53cd\u6bcd\u8dbe\u306e\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u304b\u3089[Scherer\u4ed6, 1994; van Silfhout\u4ed6, 2009]\u3001\u3053\u306e\u3088\u3046\u306a\u56db\u80a2\u6b20\u640d\u3092\u6c7a\u5b9a\u3059\u308b\u4e0a\u3067\u3001DLX5\u304a\u3088\u3073ACN9\u306e\u4e0b\u6d41\uff08RP11-800O14\u3068D7S618\u306e\u9593\uff09\u306b\u3042\u308bCUX1\u907a\u4f1d\u5b50\uff08Bernardini\u4ed6[2008]\u306b\u3088\u308a\u793a\u5506\u3055\u308c\u3066\u3044\u308b\uff09\u304a\u3088\u3073\u6f5c\u5728\u7684\u306a\u5236\u5fa1\u8981\u7d20\uff08Tzschach\u4ed6[2007]\u306b\u3088\u308a\u793a\u5506\u3055\u308c\u3066\u3044\u308b\uff09\u304c\u9664\u5916\u3055\u308c\u308b\u3053\u3068\u304c\u9593\u63a5\u7684\u306b\u78ba\u8a8d\u3055\u308c\u305f\u3002<br><br>\u4ee5\u4e0a\u306e\u7d50\u679c\u304b\u3089\u30017q21.3q31.1\u304c\u8133\u3001\u5fc3\u81d3\u3001\u6210\u9577\u3001\u773c\u306e\u751f\u7406\u30fb\u767a\u9054\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306e\u591a\u3044\u9818\u57df\u3067\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\uff08\u88682\uff09\u30017q21.3q31.1\u306b\u91cd\u306a\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u30fb\u8868\u73fe\u578b\u306e\u907a\u4f1d\u5b50\u5185\u5bb9\u306e\u6982\u8981\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u3001DLX\u907a\u4f1d\u5b50\u306e\u9060\u4f4d\u306b\u3042\u308b\u907a\u4f1d\u5b50\u5ea7\u306f\u5916\u53cd\u6bcd\u8dbe\u3068\u306f\u7121\u95a2\u4fc2\u3067\u3042\u308b\u3053\u3068\u304c\u3055\u3089\u306b\u78ba\u8a8d\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"\u88682-7q21-3q31-1\u306e\u6b20\u5931\u907a\u4f1d\u5b50\u306f-\u4ed6\u306e\u985e\u4f3c\u306e\u6b20\u5931\u75c7\u4f8b\u3067\u307f\u3089\u308c\u308b\u3044\u304f\u3064\u304b\u306e\u983b\u7e41\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\"><span class=\"ez-toc-section\" id=\"%E8%A1%A82_7q213q311%E3%81%AE%E6%AC%A0%E5%A4%B1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AF%E3%80%81%E4%BB%96%E3%81%AE%E9%A1%9E%E4%BC%BC%E3%81%AE%E6%AC%A0%E5%A4%B1%E7%97%87%E4%BE%8B%E3%81%A7%E3%81%BF%E3%82%89%E3%82%8C%E3%82%8B%E3%81%84%E3%81%8F%E3%81%A4%E3%81%8B%E3%81%AE%E9%A0%BB%E7%B9%81%E3%81%AA%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%AB%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E3%81%82%E3%82%8B\"><\/span><strong>\u88682. 7q21.3q31.1\u306e\u6b20\u5931\u907a\u4f1d\u5b50\u306f\u3001\u4ed6\u306e\u985e\u4f3c\u306e\u6b20\u5931\u75c7\u4f8b\u3067\u307f\u3089\u308c\u308b\u3044\u304f\u3064\u304b\u306e\u983b\u7e41\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<section class=\"note_table\">\n<div class=\"table-sp-scroll\">\n<table>\n<colgroup>\n    <col style=\"width:20%\">\n   <col style=\"width:40%\">\n   <col style=\"width:40%\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u95a2\u9023<\/th><th>\u907a\u4f1d\u5b50\/\u30bf\u30f3\u30d1\u30af\u8cea<\/th><th>\u53c2\u8003\u6587\u732e<\/th>\n<\/tr>\n<tr>\n<td>\u8133\/ID\/DD<\/td><td>ACHE\u3001ATXNL7\u3001BHLHA15\u3001COG5\u3001GPC2\u3001MLL5<sup>*<\/sup>\u3001NPTX2\u3001NRCAM\u3001PNPLA8\u3001RELN\u3001SRPK2\u3001SYPL1\u3001TAC1\u3001\nTHAP5\u3001TMEM130\u3001VGF\u3001NYAP1a<\/td><td>UCSC\u30b2\u30ce\u30e0\u30d6\u30e9\u30a6\u30b6\u3001Al-Hassnan\u4ed6[2011]<br>\nRymen\u4ed6[2012]\u3001ID263273\u3092\u89e3\u8aad\u3059\u308b\u3002<br>\n\u30d3\u30f3\u30bb\u30f3\u30c8\u4ed6[2008]\u3001Uliana\u4ed6[2010]<\/td>\n<\/tr>\n<tr>\n<td>\u982d\u84cb\u9854\u9762\u306e\u5909\u5316<\/td><td>MLL5<sup>*<\/sup>\u3001PLOD3<sup>**<\/sup>\u3001RELN<\/td><td>Al-Hassnan\u4ed6[2011]\u3001Salo\u4ed6[2008]<\/td>\n<\/tr>\n<tr>\n<td>\u96e3\u8074<\/td><td>GJC3\u3001LHFPL3\u3001MLL5<sup>*<\/sup>\u3001PLOD3<sup>**<\/sup>\u3001SLC26A4\u3001SLC26A5<\/td><td>UCSC\u30b2\u30ce\u30e0\u30d6\u30e9\u30a6\u30b6\u3001ID263273\u3001Salo\u4ed6[2008]<br>\u30a2\u30eb\u30d0\u30fc\u30c8\u4ed6[2006]<\/td>\n<\/tr>\n<tr>\n<td>\u773c\u306e\u7570\u5e38<\/td><td>CLDN15\u3001CYP3A4\u3001CYP3A43\u3001CYP3A5\u3001CYP3A7\u3001HBP1\u3001NRCAM\u3001TAC1\u3001TMEM130<\/td><td>EMBL-EBI\u3001\u30f4\u30a9\u30ed\u30c1\u30cd\u30f3\u4ed6[2011]\u3001\u30ea\u30fc\u4ed6[2012]\u3001\u30c7\u30df\u30e4\u30cd\u30f3\u30b3\u4ed6[2011]\u3001\u30b1\u30cd\u30c7\u30a3\u4ed6[2012]<\/td>\n<\/tr>\n<tr>\n<td>\u5fc3\u81d3\/\u5fc3\u81d3\u306e\u6b20\u9665<\/td><td>MOSPD3\u3001NPTX2\u3001PNPLA8\u3001SRPK2\u3001THAP5<\/td><td>UCSC\u30b2\u30ce\u30e0\u30d6\u30e9\u30a6\u30b6\u3001\u30dd\u30fc\u30eb\u4ed6[2004]<\/td>\n<\/tr>\n<tr>\n<td>\u6d88\u5316\u7ba1\u306e\u5909\u5316\/\u767a\u80b2\u9045\u5ef6\u30fb\u4f4e\u8eab\u9577<\/td><td>CLDN15\u3001MUC3A\u3001MUCB\u3001MUC17\u3001MOGAT3<\/td><td>UCSC\u30b2\u30ce\u30e0\u30d6\u30e9\u30a6\u30b6\u3001\u30ef\u30c0\u4ed6[2013]<\/td>\n<\/tr>\n\n<\/thead><\/table>\n<\/div>\n<p>\u3053\u308c\u3089\u306e\u95a2\u9023\u6027\u306f\u3001\u907a\u4f1d\u5b50\u6a5f\u80fd\u304a\u3088\u3073\u767a\u73fe\u4f4d\u7f6e\u3001\u4ed6\u306e\u75c7\u4f8b\u3068\u306e\u907a\u4f1d\u5b50\/\u8868\u73fe\u578b\u306e\u91cd\u8907\u3001\u307e\u305f\u306f\u4ee5\u524d\u306e\u95a2\u9023\u306b\u5f93\u3063\u3066\u5b9f\u65bd\u3055\u308c\u305f\u3002 \u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8907\u6570\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u306b\u7559\u610f\u3055\u308c\u305f\u3044\u3002 \u5b9f\u969b\u3001\u3044\u304f\u3064\u304b\u306e\u5358\u907a\u4f1d\u5b50\u6027\u75c5\u5909\u304c\u69d8\u3005\u306a\u81e8\u5e8a\u7684\u7279\u5fb4(\u4f8b)\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3088\u3046\u306b\u601d\u308f\u308c\u305f\u3002 MLL5<sup>*<\/sup>\u307e\u305f\u306fPLOD3<sup>**<\/sup>\u3002<br>\n<sup>a<\/sup> ISCA<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u4f8b(ID nssv578204)\u3067\u524a\u9664\u3002<\/p>\n<\/section>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u8b1d\u8f9e\"><span class=\"ez-toc-section\" id=\"%E8%AC%9D%E8%BE%9E\"><\/span>\u8b1d\u8f9e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u8005\u306e\u4e21\u89aa\u306e\u7d99\u7d9a\u7684\u306a\u5354\u529b\u3068Dr. Jose A. Paczka(\u773c\u79d1\u533b)\u306e\u5831\u544a\u306b\u611f\u8b1d\u7533\u3057\u4e0a\u3052\u307e\u3059\u3002 \u3053\u306e\u7814\u7a76\u306fPROMEP(No)\u306b\u3088\u3063\u3066\u90e8\u5206\u7684\u306b\u652f\u63f4\u3055\u308c\u305f\u3002 103.5\/11\/4330, PAICYT (SA609-10) to C. Cordova-Fletes, PAICYT (No.) SA324-10\u3001FOMIX(Convocatoria M0014-2007-2010\u3001Reg) 068251) CIDICS L. Martinez-Jacobo\u306f\u3001CONACYT\u5968\u5b66\u91d1\u306b\u3088\u3063\u3066\u652f\u63f4\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u53c2\u8003\u6587\u732e\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Abuelo DN, Padre-Mendoza T: 7q\u306e\u9593\u8cea\u6b20\u5931\u306b\u3088\u308bCat\u69d8\u6ce3\u304d\u304a\u3088\u3073\u7cbe\u795e\u9045\u6ede(7q22\u306f7q32\u306b\u3064\u306a\u304c\u308b)\u3002 J Med Genet 19: 473-476 (1982)<\/p>\n\n\n\n<p>Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, et al: SLC26A4\u907a\u4f1d\u5b50\u306f\u767d\u4eba\u96c6\u56e3\u306b\u304a\u3051\u308b\u524d\u5ead\u6c34\u7ba1\u80a5\u5927\u3092\u4f34\u3046\u975e\u75c7\u5019\u6027\u8074\u899a\u969c\u5bb3\u306b\u3057\u3070\u3057\u3070\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3002 Eur J Human Genet 14:773-779 (2006)<\/p>\n\n\n\n<p>Al\u2010Hassnan ZN\u3001Al\u2010Bakheet A\u3001Abu\u2010Dheim N\u3001Al\u2010Younes B\u3001Colak D\u3001Kaya N:\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308a\u691c\u51fa\u3055\u308c\u305f7q22.1\uff5e7q22.3\u306e\u65b0\u898f\u9593\u8cea<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3002 Am J Med Genet 155:3128-3131 (2011)<\/p>\n\n\n\n<p>Alward W, Fingert J, Coote M, Johnson A, Lerner S, et al: \u7b2c1\u67d3\u8272\u4f53\u958b\u653e\u9685\u89d2\u7dd1\u5185\u969c\u907a\u4f1d\u5b50(GLC1A)\u306e\u7a81\u7136\u5909\u7570\u3068\u95a2\u9023\u3059\u308b N Engl J Med 338:1022-1027 (1998)<\/p>\n\n\n\n<p>Ayraud N, Rovinski J, Lambert JC, Galiana: \u7b2c7\u67d3\u8272\u4f53\u9577\u8155\u306e\u9593\u8cea\u6027\u6b20\u5931\u3002 Ann Genet 19:265-268 (1976)<\/p>\n\n\n\n<p>Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottilo I, et al: \u67d3\u8272\u4f537q21.13-q22.1\u306e\u8907\u96d1\u306a\u518d\u7de8\u6210\u306f\u3001\u76f4\u6307\u96e3\u8074\u907a\u4f1d\u5b50\u5ea7\u3092\u78ba\u8a8d\u3057\u3001\u65b0\u3057\u3044\u5019\u88dc\u907a\u4f1d\u5b50\u3092\u793a\u5506\u3059\u308b\u3002 Am J Med Genet A 146A:238-244 (2008)<\/p>\n\n\n\n<p>Chen CP, Chang SJ, Chern SR, Wu PS, Chen YT, et al: 7q\u306ede novo interstitial deletement(7q22.1\u2192q31.1)\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u304a\u3088\u3073 \u907a\u4f1d\u5b50521:311-315(2013)<\/p>\n\n\n\n<p>Cheong MLJ, Tsai MS, Cortes R, Harrison MR: \u7b2c1\u30c8\u30ea\u30e1\u30b9\u30bf\u30fc<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u691c\u51fa\u3055\u308c\u305f\u67d3\u8272\u4f537q\u306e\u4e2d\u9593\u7684\u9593\u8cea\u6b20\u5931\u3002 \u80ce\u5150\u8a3a\u65ad24:340-344(2008)<\/p>\n\n\n\n<p>Chitayat D\u3001McGillivray BC\u3001Wood S\u3001Kalousek DK\u3001Langlois S\u3001Applegarth DA:\u9593\u8cea\u60277q\u6b20\u5931[46,XX,del(7)(pter\u2192q21.1::q22\u2192qter)]\u304a\u3088\u3073\u03b2\u30b0\u30eb\u30af\u30ed\u30cb\u30c0\u30fc\u30bc\u304a\u3088\u3073\u56a2\u80de\u6027\u7dda\u7dad\u75c7\u306e\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e Am J Med Genet 31:655-661 (1988)<\/p>\n\n\n\n<p>Demyanenko G, Riday T, Tran TS, Dalal J, Darnell EP, et al: NrCAM\u6b20\u5931\u306f\u8996\u5e8a\u76ae\u8cea\u8ef8\u7d22\u3092\u8996\u899a\u76ae\u8cea\u306b\u30c8\u30dd\u30b0\u30e9\u30d5\u30a3\u30fc\u7684\u306a\u8aa4\u914d\u5411\u3055\u305b\u3001\u8996\u529b\u3092\u7834\u58ca\u3059\u308b\u3002 J Neurosci 31:1545-1558(2011)<\/p>\n\n\n\n<p>Dennis NR, Neu RL, Bannerman RM: \u591a\u767a\u6027\u5947\u5f62\u306e\u4e73\u5150\u306b\u304a\u3051\u308b\u90e8\u5206\u76847q\u30e2\u30ce\u30bd\u30df\u30fc\u3002 Am J Hum Genet 29:37A (1977)<\/p>\n\n\n\n<p>Fagan K, Gill A, Henry R, Wilkinson I, Carey B: 7q\u306e\u9593\u8cea\u6027\u6b20\u5931\u304a\u3088\u3073\u03b2-\u30b0\u30eb\u30af\u30ed\u30cb\u30c0\u30fc\u30bc\u907a\u4f1d\u5b50\u306e\u6392\u9664\u30de\u30c3\u30d4\u30f3\u30b0\u306e\u8981\u7d04\u3002 J Med Genet 26:619-625 (1989)<\/p>\n\n\n\n<p>Franceschini P, Silengo MC, Davi GF, Santoro MA, Prandi G, Fabris C: \u67d3\u8272\u4f537 46,XX,del(7)\u306e\u9577\u8155\u306e\u9593\u8cea\u6027\u6b20\u5931(pter\u306fq2200:q32 Hum Genet 44:345-348 (1978)<\/p>\n\n\n\n<p>Gibson J, Ellis PM, Forsyth JS: \u7b2c7\u67d3\u8272\u4f53\u306e\u9593\u8cea\u6027\u6b20\u5931: \u75c7\u4f8b\u5831\u544a\u304a\u3088\u3073\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002 Clin Genet 22:256-265 (1982)<\/p>\n\n\n\n<p>Higginson G, Weaver DD, Magenis RE, Prescott GH, Haag C, Hepburn DJ: \u591a\u767a\u6027\u5947\u5f62\u306e\u4e73\u5150\u306b\u304a\u3051\u308b\u67d3\u8272\u4f537\u756a(7q-)\u306e\u9577\u8155\u306e\u9593\u8cea\u6027\u6b20\u5931\u3002 Clin Genet 10:307-312 (1976)<\/p>\n\n\n\n<p>Hull DR, Kessler KK, Juberg RC: 7q\u306e\u9593\u8cea\u6027\u6b20\u5931\u306b\u3088\u308a\u3001\u767a\u80b2\u4e0d\u5168\u304a\u3088\u3073\u7279\u7570\u7684\u306a\u6ce3\u304d\u3092\u5f15\u304d\u8d77\u3053\u3059: \u4ee5\u524d\u306b\u5831\u544a\u3055\u308c\u305f7q1\u304a\u3088\u30737q2\u306e\u6b20\u5931\u3068\u306e\u6bd4\u8f03\u3002 Am J Hum Genet 31:97A (1979)<\/p>\n\n\n\n<p>Izzotti A, Longobardi M, Cartiglia C, Sacca SC: \u5c0f\u67f1\u7db2\u306b\u304a\u3051\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u640d\u50b7\u306f\u3001\u539f\u767a\u6027\u958b\u653e\u9685\u89d2\u7dd1\u5185\u969c\u304a\u3088\u3073\u507d\u5265\u8131\u6027\u7dd1\u5185\u969c\u306b\u304a\u3044\u3066\u306e\u307f\u8d77\u3053\u308b\u3002 PLoS 1 6e14567 (2011)<\/p>\n\n\n\n<p>Kennedy KD, Anithachristy SA, Buie LK, Borras T: Cystatin A: \u5909\u7570\u578b\u30df\u30aa\u30b7\u30ea\u30f3\u539f\u56e0\u7dd1\u5185\u969c\u306e\u4e00\u822c\u7684\u306a\u95a2\u9023\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 PloS 1 7:e36301 (2012)<\/p>\n\n\n\n<p>Klep-de Pater JM, Bijlsma JB, Bleeker-Wagemakers EM, de France HF, de Vries-Ekkers CMAM: \u7b2c7\u67d3\u8272\u4f53\u9577\u8155\u306e\u7570\u306a\u308b\u6b20\u5931\u3092\u6709\u3059\u308b2\u75c7\u4f8b J Med Genet 16:151-154 (1979)<\/p>\n\n\n\n<p>Lee J, Hsiao C, Yang I, Chou MH, Wu CL, et al: High-mobility group box 1\u86cb\u767d\u8cea\u306f\u3001\u30e9\u30c3\u30c8\u7db2\u819c\u795e\u7d4c\u7bc0\u7d30\u80de\u682aRGC-5\u306b\u304a\u3051\u308b\u7cd6\u5316\u6700\u7d42\u7523\u7269\u8a98\u5c0e\u6027\u8840\u7ba1\u5185\u76ae\u5897\u6b96\u56e0\u5b50A \u30e2\u30fc\u30eb\u30d3\u30b8\u30e7\u30f318:838-850(2012)<\/p>\n\n\n\n<p>Montgomery TL\u3001Wyllie J\u3001Oley C:7q21.2-q31.2\u306e\u9593\u8cea\u6027\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u4e73\u3073\u6307\u75c7\u304a\u3088\u3073\u7dd1\u5185\u969c\u3002 Clin Dysmorphol 9:235-239 (2000)<\/p>\n\n\n\n<p>Mookherjee S, Acharya M, Banerjee D, Bhattacharjeee A, Ray K: MYOC\u30a2\u30c3\u30d7\u30ec\u30ae\u30e5\u30ec\u30fc\u30b7\u30e7\u30f3\u306b\u304a\u3051\u308bCYP1B1\u306e\u95a2\u4e0e\u306e\u5206\u5b50\u7684\u6839\u62e0\u304a\u3088\u3073\u7dd1\u5185\u969c\u306e\u75c5\u56e0\u306b\u304a\u3051\u308b\u305d\u306e\u6f5c\u5728\u7684\u610f\u7fa9 PLoS 7:e45077 (2012)\u3002<\/p>\n\n\n\n<p>Morey MA, Higgins RR: 7q\u306e\u9593\u8cea\u6027\u6b20\u5931\u3092\u4f34\u3046\u30a8\u30af\u30c8\u30ed-\u30a2\u30e1\u30ea\u30a2\u75c7\u5019\u7fa4\u3002 Am J Med Genet 35:95-99 (1990)<\/p>\n\n\n\n<p>Pall GS, Wallis J, Axton R, Brownstein DG, Gautier P, et al: \u53f3\u5ba4\u767a\u9054\u306b\u5f79\u5272\u3092\u679c\u305f\u3059\u65b0\u3057\u3044\u819c\u8cab\u901aMSP\u542b\u6709\u86cb\u767d\u8cea\u3002 \u30b2\u30ce\u30e084:1051-1059(2004)<\/p>\n\n\n\n<p>Rivera H, Sanchez-Corona J, Burgos-Fuentes VR, Melendez-Ruiz MJ: 7q22\u306e\u6b20\u5931\u3068\u6b20\u5931\u6307\u6570\u3002 Genet Couns 2:27-31 (1991)<\/p>\n\n\n\n<p>Rymen D\u3001Keldermans L\u3001Race V\u3001Rregal L\u3001Deconinck N, et al: COG5-CDG: \u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30eb\u306e\u62e1\u5927\u3002 \u5b64\u5150\u9662J Reare Dis 7:94 (2012)<\/p>\n\n\n\n<p>Salo AM, Cox H, Farndon P, Moss C, Grindulis H, et al: \u30ea\u30b7\u30eb\u30d2\u30c9\u30ed\u30ad\u30b7\u30e9\u30fc\u30bc3\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7d50\u5408\u7d44\u7e54\u969c\u5bb3\u3002 Am J Hum Genet 83:495-503 (2008)<\/p>\n\n\n\n<p>Scherer S, Poorkaj P, Allen T, Kim J, Geshuri D, et al: \u67d3\u8272\u4f537\u4e0a\u306e\u5e38\u67d3\u8272\u4f53\u512a\u6027\u30b9\u30d7\u30ea\u30f3\u30c8\u30cf\u30f3\u30c9\/\u30b9\u30d7\u30ea\u30c3\u30c8\u30d5\u30c3\u30c8\u907a\u4f1d\u5b50\u5ea7\u306e\u30d5\u30a1\u30a4\u30f3\u30de\u30c3\u30d4\u30f3\u30b0\u3001\u30d0\u30f3\u30c9q21.3- 1. Am J Hum Genet 55:12-20 (1994)<\/p>\n\n\n\n<p>Serup L:\u7b2c7\u67d3\u8272\u4f53\u9577\u8155\u306e\u9593\u8cea\u6027\u6b20\u5931\u3002 Hum Genet 54:19-23 (1980)<\/p>\n\n\n\n<p>Stoilov I\u3001Akarsu N\u3001Sarfarazi M:\u67d3\u8272\u4f532p21\u4e0a\u306eGLC3A lo-cus\u306b\u95a2\u9023\u3059\u308b\u5bb6\u7cfb\u306b\u304a\u3051\u308b\u539f\u767a\u6027\u5148\u5929\u6027\u7dd1\u5185\u969c(\u30d6\u30c9\u30a6\u7403\u83cc)\u306e\u4e3b\u8981\u539f\u56e0\u3068\u3057\u3066\u306e\u30c1\u30c8\u30af\u30ed\u30fc\u30e0P4501B1(CYP1B1)\u306b\u304a\u3051\u308b3\u3064\u306e\u7570\u306a\u308b\u5207\u65ad\u7a81\u7136\u5909\u7570\u306e\u540c\u5b9a\u3002 Hum Mol Gen 6:641\u2013647 (1997)<\/p>\n\n\n\n<p>Tajara EH, Varella-Garcia M, Gusson AC: \u7b2c7\u67d3\u8272\u4f53\u306e\u9593\u8cea\u6027\u9577\u8155\u6b20\u5931\u304a\u3088\u3073\u76f4\u6307\u75c7\u3002 Am J Med Genet 32:192-194(1989)<\/p>\n\n\n\n<p>Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, et al: CAV1\u304a\u3088\u3073CAV2\u306b\u8fd1\u3044\u4e00\u822c\u7684\u306a\u5909\u7570\u578b\u306f\u3001\u539f\u767a\u958b\u653e\u9685\u89d2\u7dd1\u5185\u969c Nat Genet 42:906-909 (2010)<\/p>\n\n\n\n<p>Turner H\u3001Budak M\u3001Akinci M\u3001Wolosin JM:\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u7528\u3044\u305f\u30d2\u30c8\u7d50\u819c\u304a\u3088\u3073\u89d2\u819c\u4e0a\u76ae\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u6bd4\u8f03\u5206\u6790\u3002 Ophthalmol Vis Sci 48:2050-2061 (2007)\u306b\u6295\u8cc7\u3059\u308b\u3002<\/p>\n\n\n\n<p>Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, et al: tiling path array CGH\u306b\u3088\u308b16 Mb\u306e\u9593\u8cea\u6027\u67d3\u8272\u4f537q21\u6b20\u5931\u306e\u7279\u5fb4 Am J Med Genet A 143:333-337 (2007)<\/p>\n\n\n\n<p>Uliana V, Grosso S, Cioni M, Ariani F, Papa FT, et al: \u67d3\u8272\u4f537\u306e\u30d0\u30f3\u30c9q22.2-q22.3\u306b\u304a\u3051\u308b3.2Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u3001\u904e\u6210\u9577\u304a\u3088\u3073\u9045\u5ef6 Eur J Med Genet 53:168-170 (2010)<\/p>\n\n\n\n<p>van Silfhout AT, van den Akker PC, Dijkhuizenet T, Verheij J, Olderode-Berends M, et al: \u67d3\u8272\u4f537q\u7570\u5e38(SHFM1)\u306b\u3088\u308b\u624b\u8db3\u306e\u30b9\u30d7\u30ea\u30c3\u30c8\u5947\u5f62: \u539f\u56e0\u6a5f\u5e8f\u3068\u3057\u3066\u306e\u6a5f\u80fd\u7684\u534a Eur J Hum Genet 17:1432-1438 (2009)<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u304a\u3088\u3073\u7cbe\u795e\u9045\u6ede\u306b\u95a2\u9023\u3059\u308b\u30d3\u30f3\u30bb\u30f3\u30c8JB\u3001Choufani S\u3001Horike S\u3001Stachowiak B\u3001Li M\u4ed6:A\u8ee2\u5ea7t(6;7)(p11-p12;q22):\u5207\u65ad\u70b9\u306b\u304a\u3051\u308b\u5019\u88dc\u907a\u4f1d\u5b50\u306e\u5c40\u5728\u304a\u3088\u3073\u540c\u5b9a\u3002 \u7cbe\u795e\u79d1Genet 18:101-109 (2008)<\/p>\n\n\n\n<p>Volotinen M, Hakcola J, Pelkonen O, Vapaatalo H, Mmaenpa A J: \u773c\u79d1\u7528\u30c1\u30e2\u30ed\u30fc\u30eb\u306e\u4ee3\u8b1d: \u53e4\u3044\u85ac\u306e\u65b0\u3057\u3044\u5074\u9762 \u57fa\u672c\u30af\u30ea\u30f3\u85ac\u7406\u5b66\u30c4\u30fc\u30eb108:297-303 (2011)<\/p>\n\n\n\n<p>\u548c\u7530M, \u7530\u6751A, \u9ad8\u6a4bN, \u6d25\u5317S: \u30de\u30a6\u30b9\u304b\u3089\u306e\u30af\u30ed\u30fc\u30c7\u30a3\u30f32\u304a\u3088\u307315\u306e\u55aa\u5931\u306f\u3001\u8178\u306e\u508d\u7d30\u80de\u6027Na(+)\u6d41\u304a\u3088\u3073\u6804\u990a\u8f38\u9001\u306e\u6b20\u640d\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u6804\u990a\u5931\u8abf\u306b\u3088\u308b\u6b7b\u4ea1\u3092\u3082\u305f\u3089\u3059\u3002 \u6d88\u5316\u5668\u5185\u79d1:S0016-5085(2012)<\/p>\n\n\n\n<p>Young RS, Weaver DD, Kukolich MK, Heerema NA, Palmer CG, et al: \u7b2c7\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u6b20\u5931\u304a\u3088\u3073\u9593\u8cea\u6b20\u5931: \u65b0\u305f\u306b5\u4f8b\u3092\u5bfe\u8c61\u3068\u3057\u305f\u7dcf Am J Med Genet 17:437-450 (1984)\u3002<\/p>\n\n\n\n<p>Zhang T, Xiang C, Gale D, Carreiro S, Wu E, Zhang EY: \u85ac\u7269\u8f38\u9001\u4f53\u304a\u3088\u3073\u30d2\u30c8\u773c\u95a2\u9580\u306b\u304a\u3051\u308b\u30c1\u30c8\u30af\u30ed\u30fc\u30e0P450 mRNA\u767a\u73fe: \u773c\u5185\u85ac\u7269\u52d5\u614b\u3078\u306e\u5f71\u97ff \u30c9\u30e9\u30c3\u30b0\u30fb\u30e1\u30bf\u30d6\u30fb\u30c7\u30a3\u30b9\u30dd36:1300-1307(2008).<\/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<div id=\"paper-foot\" class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\" id=\"karger\"><span class=\"ez-toc-section\" id=\"KARGER\"><\/span>KARGER<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>e-Mail karger@karger.com ww.karger.com\/msy\u8457\u4f5c\u6a29 2013 S. Karger AG, Basel 1661-8769\/13\/0046-0285$38.00\/0<\/p>\n\n\n\n<p>\u30aa\u30fc\u30ac\u30b9\u30c8\u30fb\u30ed\u30b8\u30e3\u30b9\u30fb\u30de\u30eb\u30c6\u30a3\u30cd\u30b9\u3001MD\/DSc<\/p>\n\n\n\n<p>\u5206\u5b50\u751f\u7269\u5b66\u9023\u5408\u3001\u30b2\u30ce\u30df\u30ab\u3001\u79d1\u5b66\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\u3001\u30b5\u30a6\u30fc\u30c9\u5e02\u6c11\u56e3\u4f53\u3001\u5171\u540c\u7814\u7a76\u6a5f\u95a2<\/p>\n\n\n\n<p>\u30e2\u30f3\u30c6\u30ec\u30a464460 (\u30e1\u30ad\u30b7\u30b3) \u30cc\u30a8\u30dc\u30fb\u30ec\u30aa\u30f3\u5927\u5b66\u96fb\u5b50\u30e1\u30fc\u30eb\u30fb\u30a2\u30ed\u30b8\u30e3\u30b9\u30c8\u30e0\u30c4@gmail.com<\/p>\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"L. Mart\u00ednez-Jacobo a&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/\">\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":[33,49,73],"class_list":["post-17901","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-symptom","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/17901","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=17901"}],"version-history":[{"count":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/17901\/revisions"}],"predecessor-version":[{"id":109671,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/17901\/revisions\/109671"}],"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=17901"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=17901"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=17901"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}