{"id":18598,"date":"2021-10-26T16:46:42","date_gmt":"2021-10-26T07:46:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=18598"},"modified":"2025-08-11T14:48:37","modified_gmt":"2025-08-11T05:48:37","slug":"10q22-3q23-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/","title":{"rendered":"10q22.3-q23.2\u5fae\u5c0f\u6b20\u5931\u306e\u65b0\u898f\u75c7\u4f8b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>Miriam Coelho Molck Milena Simioni T\u00e1rsis Paiva Vieira<br>Fab\u00edola Paoli Monteiro Vera L. Gil-da-Silva-Lopes<\/p>\n\n\n\n<p>\u30ab\u30f3\u30d4\u30ca\u30b9\u5927\u5b66\u533b\u5b66\u90e8\u907a\u4f1d\u5b66\u79d1(UNICAMP)\u3001\u30d6\u30e9\u30b8\u30eb\u3001\u30ab\u30f3\u30d4\u30ca\u30b9<\/p>\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 ' ><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E7%A2%BA%E5%AE%9A%E4%BA%8B%E5%AE%9F\" >\u78ba\u5b9a\u4e8b\u5b9f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E6%96%B0%E3%81%97%E3%81%84%E6%B4%9E%E5%AF%9F\" >\u65b0\u3057\u3044\u6d1e\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%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-4'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E8%A6%81%E7%B4%84\" >\u8981\u7d04<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E6%82%A3%E8%80%85%E3%81%A8%E6%96%B9%E6%B3%95\" >\u60a3\u8005\u3068\u65b9\u6cd5<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E7%97%87%E4%BE%8B%E5%A0%B1%E5%91%8A\" >\u75c7\u4f8b\u5831\u544a<\/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\/10q22-3q23-2\/#%E5%88%86%E5%AD%90%E7%B4%B0%E8%83%9E%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E5%88%86%E6%9E%90\" >\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u5206\u6790<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E8%AC%9D%E8%BE%9E\" >\u8b1d\u8f9e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E5%80%AB%E7%90%86%E5%AE%A3%E8%A8%80\" >\u502b\u7406\u5ba3\u8a00<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E4%BA%8B%E5%AE%9F\"><\/span>\u78ba\u5b9a\u4e8b\u5b9f<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u305f10q22.3-q23.2\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u3001\u6700\u8fd1\u5831\u544a\u3055\u308c\u305f\u307e\u308c\u306a10q22q23<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3068\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u7279\u5fb4\u7684\u3067\u306f\u306a\u3044\u8868\u73fe\u578b\u3092\u793a\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306b\u300110q22.3-q23.2\u306b\u96a3\u63a5\u3059\u308b\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa93\/4\u306b\u304a\u3051\u308b14\u4f8b\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304c\u6587\u732e\u3067\u5831\u544a\u3055\u308c\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\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E3%81%97%E3%81%84%E6%B4%9E%E5%AF%9F\"><\/span>\u65b0\u3057\u3044\u6d1e\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>10q22.3-q23.2\u30677.8Mb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u5448\u3057\u305f\u7537\u5150\u306e\u65b0\u898f\u75c7\u4f8b\u3092\u5831\u544a\u3057\u3001\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f\u985e\u4f3c\u75c7\u4f8b\u3068\u5f7c\u306e\u81e8\u5e8a\u5fb4\u5019\u3092\u6bd4\u8f03\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u8457\u8005\u3089\u306e\u60a3\u8005\u306f\u3001\u8868\u73fe\u578b\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b189 kb\u306e16q12.1\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><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><\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\u75c7\u5019\u7fa4<\/a>10q22q23 \u30fb \u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u76f8\u95a2 \u30fb \u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66<\/p>\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<h4 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><\/h4>\n\n\n\n<p class=\"has-text-align-left\">10q22.3q23.2\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u307e\u308c\u3067\u3042\u308a\u30012\u3064\u306e\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9(LCR3\u304a\u3088\u30734)\u306b\u3088\u3063\u3066\u5a92\u4ecb\u3055\u308c\u308b\u3002 \u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u3059\u3067\u306b10q22q23<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u3066\u3044\u308b\u3002 \u3053\u306e\u75c5\u614b\u306b\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b\u306f\u304b\u306a\u308a\u7279\u5fb4\u7684\u3067\u306f\u306a\u304f\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u7279\u5fb4\u306f\u982d\u84cb\u9854\u9762\u306e\u7570\u5f62\u304a\u3088\u3073\u767a\u9054\u9045\u5ef6\u3067\u3042\u308b\u3002 \u982d\u84cb\u9854\u9762\u5947\u5f62\u306e\u7279\u5fb4\u3001\u767a\u9054\u9045\u6ede\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3001\u624b\u8db3\u306e\u7570\u5e38\u3001\u304a\u3088\u3073\u518d\u767a\u6027\u6c17\u9053\u611f\u67d3\u75c7\u3092\u6709\u3059\u308b\u7537\u5150\u306b\u3064\u3044\u3066\u5831\u544a\u3059\u308b\u3002 \u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5206\u6790\u306f\u300110q22.3q23.2\u30677.8Mb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3001LCRs 3\/4\u306b\u96a3\u63a5\u3057\u3001\u3055\u3089\u306b189 kb\u306e16q12.1\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u793a\u3057\u305f\u3002 \u672c\u7a3f\u3067\u306f\u3001\u985e\u4f3c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u5831\u544a\u75c7\u4f8b\u306e\u81e8\u5e8a\u5fb4\u5019\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u3001\u305d\u308c\u3089\u3092\u6211\u3005\u306e\u60a3\u8005\u3068\u6bd4\u8f03\u3057\u3001\u907a\u4f1d\u5b50\u578b\u2010\u8868\u73fe\u578b\u76f8\u95a2\u306e\u3088\u308a\u826f\u3044\u7406\u89e3\u306b\u8ca2\u732e\u3057\u305f\u3002<\/p>\n\n\n\n<p class=\"has-text-align-right\">\u8457\u4f5c\u6a29(2017 S. Karger AG, Basel)<\/p>\n\n\n\n<p>\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u306e\u5411\u4e0a\u3002MLPA\u3084\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u7528\u3044\u305f\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u306e\u5411\u4e0a\u306b\u3088\u308a \u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u7528\u3044\u305f\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\/\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907\u75c7\u5019\u7fa4<\/a>\u306e\u30ea\u30b9\u30c8\u306f\u5897\u52a0\u306e\u4e00\u9014\u3092\u305f\u3069\u3063\u3066\u3044\u307e\u3059\u3002 microduplication syndromes\u306e\u30ea\u30b9\u30c8\u306f\u5e38\u306b\u5897\u52a0\u3057\u3066\u3044\u308b[Slavotinek, 2008; Nevado\u3089 2014]\u3002\u3053\u308c\u3089\u306e\u4e2d\u306b\u306f\u3001\u8a8d\u8b58\u53ef\u80fd\u306a\u8868\u73fe\u578b\u3092\u6301\u3064\u3082\u306e\u3082\u3042\u308c\u3070\u3001\u8868\u73fe\u578b\u304c\u4e00\u8cab\u3057\u3066\u304a\u3089\u305a\u3001\u795e\u7d4c\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u3082\u306e\u3082\u3042\u308a\u307e\u3059\uff3bKoolen\u3089\u30012008\uff1bvan Bon\u3089\u30012011\uff3d\u3002<\/p>\n\n\n\n<p>10q22.3q23.2\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u3001\u8a8d\u77e5\u969c\u5bb3\u304a\u3088\u3073\u884c\u52d5\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b\u307e\u308c\u306a\u65b0\u898f\u75c7\u5019\u7fa4\u3068\u3057\u3066\u7279\u5fb4\u3065\u3051\u3089\u308c\u3066\u3044\u308b[Balciuniene\u3089\u30012007]\u3002 \u3053\u306e\u9818\u57df\u306f\u3001\u975e\u5bfe\u7acb\u907a\u4f1d\u5b50\u76f8\u540c\u7d44\u63db\u3048(NAHR)[Lupski \u3068 Stankiewicz, 2005]\u306b\u3088\u3063\u3066\u5a92\u4ecb\u3055\u308c\u308b\u69d8\u3005\u306a\u30b2\u30ce\u30e0\u5909\u5316\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3067\u304d\u308b\u3001\u8a2d\u8a08\u3055\u308c\u305fLCR3\u304a\u3088\u3073LCR4\u3067\u3042\u308b\u8907\u96d1\u306a\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u30bb\u30c3\u30c8(LCR)\u306b\u96a3\u63a5\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306bLCR\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u304c\u67d3\u8272\u4f53\u518d\u7de8\u6210\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027\u304c\u9ad8\u3044\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b[Alliman\u3089\u30012010]\u3002 \u305d\u308c\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001LCR3\/4\u5185\u306e\u5207\u65ad\u70b9\u3092\u6709\u3059\u308b14\u500b\u306e\u65b0\u898f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304a\u3088\u30737\u500b\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u307f\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b[Goss\u3089 1998; Han\u3089 2004; Dufke\u3089 2006; Balciuniene\u3089 2007; Erdogan\u3089 2008; Alliman\u3089 2010; Reddy\u3089 2011; Singh\u3089 2011; van Bon\u3089 2011; Petrova\u3089 2014]\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u3067\u306f\u300110q22.3q23.2\u30677.8 Mb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3057\u3001LCR3\/4\u306b\u96a3\u63a5\u3057\u3001\u3055\u3089\u306b16q12.1\u3067189kb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u60a3\u8005\u306b\u3064\u3044\u3066\u5831\u544a\u3059\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%85%E3%81%A8%E6%96%B9%E6%B3%95\"><\/span>\u60a3\u8005\u3068\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\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%97%87%E4%BE%8B%E5%A0%B1%E5%91%8A\"><\/span>\u75c7\u4f8b\u5831\u544a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>3\u6b73\u306e\u5c11\u5e74\u304c\u3001\u8907\u6570\u306e\u7570\u5e38\u306e\u305f\u3081\u3001FCM-UNICAMP\u306e\u907a\u4f1d\u5b66\u30b5\u30fc\u30d3\u30b9\u3067\u907a\u4f1d\u533b\u5b66\u30b3\u30f3\u30b5\u30eb\u30c6\u30fc\u30b7\u30e7\u30f3\u306e\u305f\u3081\u7d39\u4ecb\u3055\u308c\u305f\u3002 \u60a3\u8005\u306f\u7d4c\u9a13\u8c4a\u5bcc\u306a\u81e8\u5e8a\u907a\u4f1d\u5b66\u8005\u306b\u3088\u308a\u3001\u81e8\u5e8a\u6b74\u304a\u3088\u3073\u5bb6\u65cf\u6b74\u60c5\u5831\u3068\u7570\u5f62\u306e\u7279\u5fb4\u304b\u3089\u306a\u308b\u7279\u5b9a\u306e\u30c1\u30a7\u30c3\u30af\u30ea\u30b9\u30c8\u3092\u7528\u3044\u3066\u8a55\u4fa1\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u767a\u7aef\u8005\u306f\u3001\u81ea\u7136<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306e\u65e2\u5f80\u304c\u3042\u308a\u3001\u5e74\u9577\u306e\u5065\u5eb7\u306a\u5b50\u4f9b\u3092\u3082\u3064\u8840\u7e01\u95a2\u4fc2\u306e\u306a\u3044\u4e21\u89aa\u304b\u3089\u751f\u307e\u308c\u305f2\u756a\u76ee\u306e\u5b50\u4f9b\u3067\u3059\u3002 \u5f7c\u306e\u5bb6\u65cf\u6b74\u306f\u7279\u8a18\u3059\u3079\u304d\u3082\u306e\u3067\u306f\u306a\u304b\u3063\u305f\u3002 \u51fa\u751f\u6642\u3001\u4e21\u5074\u5185\u53cd\u8db3\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 \u65b0\u751f\u5150\u671f\u306bFallot\u56db\u5fb4\u75c7\u3068\u8a3a\u65ad\u3055\u308c\u30019\u304b\u6708\u9f62\u3067\u77ef\u6b63\u5fc3\u81d3\u624b\u8853\u3092\u884c\u3063\u305f\u3002 \u305d\u306e\u5f8c\u306e\u767a\u9054\u306f\u5168\u822c\u7684\u306b\u9045\u308c\u3001\u5c0f\u5150\u671f\u306b1\u56de\u306e\u71b1\u6027\u75d9\u6523\u304c\u5831\u544a\u3055\u308c\u305f\u3002 \u307e\u305f\u3001\u4e0a\u6c17\u9053\u611f\u67d3\u306e\u518d\u767a\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002<\/p>\n\n\n\n<p>3\u6b73\u6642\u306e\u5f62\u614b\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u524d\u982d\u9686\u8d77\u3001\u4e21\u5074\u306e\u904e\u5ea6\u306b\u6298\u308a\u7573\u307e\u308c\u305f\u87ba\u65cb\u3068\u9855\u8457\u306a\u53f3\u53cd\u8033\u8f2a\u3092\u4f34\u3046\u4f4e\u4f4d\u524d\u637b\u8033\u3001\u53f3\u8033\u4ecb\u524d\u7aa9\u3001\u307e\u3070\u3089\u306a\u7709\u6bdb\u3001\u4e0b\u659c\u3081\u306e\u773c\u77bc\u88c2\u3001\u6d45\u773c\u7aa9\u3001\u9f3b\u306e\u7403\u6839\u72b6\u306e\u5148\u7aef\u3001\u9ad8\u53e3\u84cb\u3001\u4e21\u5074\u5185\u53cd\u8db3\u3001\u4e21\u5074\u306e\u4e0d\u5b8c\u5168\u306a\u624b\u638c\u88c2\u304c\u660e\u3089\u304b\u3068\u306a\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E7%B4%B0%E8%83%9E%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E5%88%86%E6%9E%90\"><\/span>\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CytoScan HD\u30c1\u30c3\u30d7(Affymetrix, Santa Clara, CA, USA)\u3092\u7528\u3044\u3066\u3001\u88fd\u9020\u8005\u306e\u6307\u793a\u306b\u5f93\u3063\u3066\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5206\u6790\u3092\u884c\u3044\u3001\u67d3\u8272\u4f53\u5206\u6790\u30b9\u30a4\u30fc\u30c8(ChAS)\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2(Affymetrix)\u3092\u7528\u3044\u3066\u5206\u6790\u3057\u305f\u3002 \u75c5\u539f\u6027CNV\u306e\u78ba\u8a8d\u306f\u3001Agilent Human Genome G3 SurePrint 8 \u00d7 60 K Microarray(Agilent Technologies, Santa Clara, CA, USA)\u3092\u7528\u3044\u3066\u884c\u3044\u3001Agilent Cytogenomics\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2(Agilent Technologies)\u3092\u7528\u3044\u3066\u5206\u6790\u3057\u305f\u3002 \u60a3\u8005\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5206\u6790\u306f\u300110q22.3q23.2\u30677.8 Mb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u660e\u3089\u304b\u306b\u3057\u305f(<strong>\u56f31A,B<\/strong>)\u3002 \u3055\u3089\u306b\u3001\u8457\u8005\u3089\u306e\u60a3\u8005\u306f16q12.1(<strong>\u56f32A\u3001B<\/strong>)\u3067189kb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3057\u3066\u3044\u305f:arr[GRCh37]10q22.3q23.2(8146577_89253430)\u00d71,16q12.1(47127281_47316339)\u00d71\u3002 \u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306e\u89aa\u8d77\u6e90\u306e\u8abf\u67fb\u306f\u3001\u8a66\u6599\u304c\u5165\u624b\u3067\u304d\u306a\u304b\u3063\u305f\u305f\u3081\u4e0d\u53ef\u80fd\u3067\u3042\u3063\u305f\u3002 \u60a3\u8005\u306f\u8ffd\u8de1\u4e0d\u80fd\u3068\u306a\u308a\u3001\u6838\u578b\u306f\u69cb\u9020\u7684\u5909\u5316\u3092\u9664\u5916\u3059\u308b\u305f\u3081\u306b\u5b9f\u65bd\u3067\u304d\u306a\u304b\u3063\u305f\u3002<\/p>\n<\/div><\/div>\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>\u56f31.<\/strong> &nbsp;\u7f79\u60a3\u8005\u306e\u30a2\u30ec\u30a4\u7d50\u679c\u3002 CytoScan HD\u30c1\u30c3\u30d7\u3092\u7528\u3044\u305f\u67d3\u8272\u4f5310\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5206\u6790(CMA)\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306fq22.3q23.2(81,446,577\uff5e89,253,430; hg 19)\u306b\u304a\u3051\u308b7.8Mb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u793a\u3057\u305f\u3002 Agilent Human Genome G3 SurePrint 8\u00d760 K<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u7528\u3044\u305f\u67d3\u8272\u4f5310\u306eCMB\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306b\u3088\u308aq22.3q23.2\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"816\" height=\"473\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/10q22.3q23-a.jpg\" alt=\"\" class=\"wp-image-18601\"\/><\/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>\u56f32.<\/strong> \u5f71\u97ff\u3092\u53d7\u3051\u305f\u500b\u4eba\u306e\u7d50\u679c\u3092\u914d\u5217\u3059\u308b\u3002 CytoScan HD\u30c1\u30c3\u30d7\u3092\u7528\u3044\u305f\u67d3\u8272\u4f5316\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5206\u6790(CMA)\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306fq12.1(47,127,281\uff5e47,316,339; hg 19)\u306b\u304a\u3051\u308b189kb\u306e\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u793a\u3057\u305f\u3002 Agilent Human Genome G3 SurePrint 8\u00d760 K<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u7528\u3044\u305f\u67d3\u8272\u4f5316\u306eCMB\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306b\u3088\u308aq12.1\u30de\u30a4\u30af\u30ed<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304c\u78ba\u8a8d\u3055\u308c\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<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"998\" height=\"430\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/10q22.3q23-b.jpg\" alt=\"\" class=\"wp-image-18603\"\/><\/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<h2 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><\/h2>\n\n\n\n<p>\u767a\u9054\u9045\u5ef6\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3(CHD)\u3001\u982d\u84cb\u9854\u9762\u7570\u5f62\u75c7\u3001\u624b\u8db3\u306e\u7570\u5e38\u3001\u304a\u3088\u3073\u518d\u767a\u6027\u611f\u67d3\u75c7\u3092\u6709\u3059\u308b\u7537\u5150\u306e\u75c7\u4f8b\u3092\u5831\u544a\u3059\u308b\u3002 \u5b9f\u969b\u3001\u60a3\u8005\u306f\u3001\u7a00\u306a10q22q23<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\u75c7\u5019<\/a>\u7fa4(DS)\u306e\u9818\u57df\u306b\u91cd\u8907\u3059\u308b7.8Mb\u306e10q22.3q23.2\u9593\u8cea\u6027\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u5448\u3059\u308b\u3002 \u5831\u544a\u3055\u308c\u305f\u60a3\u8005\u304a\u3088\u3073LCR3\/4 10q22.3q23.2<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u767a\u7aef\u8005\u306e\u4e00\u822c\u7684\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u306f\u3001\u516815\u4f8b\u306b\u8a8d\u3081\u3089\u308c\u308b\u982d\u84cb\u9854\u9762\u7570\u5f62\u306e\u7279\u5fb4\u3001\u767a\u9054\u9045\u5ef6(13\/15\u300187%)\u3001\u53e3\u84cb\u306e\u5909\u5316(6\/15\u300140%)\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3(6\/15\u300140%)\u3001\u304a\u3088\u3073\u624b\u8db3\u306e\u7570\u5e38(10\/15\u300167%)\u304c\u542b\u307e\u308c\u305f\u3002 \u6211\u3005\u306e\u60a3\u8005\u306b\u306f\u5b58\u5728\u3057\u306a\u304410q22q23 DS\u306e\u305d\u306e\u4ed6\u306e\u307e\u308c\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b(3\/15\u300120%)\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>(2\/15\u300113%)\u3001\u95a2\u7bc0\u4f38\u5c55\u6027\u4ea2\u9032(2\/15\u300113%)\u3067\u3042\u308b(<strong>\u88681<\/strong>)\u3002 \u982d\u84cb\u9854\u9762\u306e\u7570\u5f62\u306f\u3001\u8a8d\u8b58\u53ef\u80fd\u306a\u9854\u9762\u306e\u8868\u73fe\u578b\u3092\u3082\u305f\u3089\u3055\u305a\u3001\u6700\u3082\u4e00\u822c\u7684\u306b\u306f\u4f4e\u773c\u77bc\u75c7\u307e\u305f\u306f\u9ad8\u773c\u77bc\u75c7(9\/15\u300160%)\u3001\u4f4e\u8033\u304a\u3088\u3073\u5c0f\u8033(6\/15\u300140%)\u3001\u4e0a\u5411\u304d\u307e\u305f\u306f\u4e0b\u5411\u304d\u306e\u773c\u77bc\u88c2(6\/15\u300140%)\u3001\u4e0a\u5411\u304d\u306e\u3072\u3060(4\/15\u300127%)\u3001\u304a\u3088\u3073\u5e73\u5766\u306a\u9f3b\u6a4b(3\/15\u300120%)\u3092\u542b\u3093\u3067\u3044\u305f\u3002 \u8457\u8005\u3089\u306e\u60a3\u8005\u306f\u3001\u4f4e\u4f4d\u8033\u3068\u4e0b\u5411\u304d\u773c\u77bc\u88c2\u3092\u5448\u3057\u305f\u3002 \u6700\u3082\u4e00\u822c\u7684\u306a\u53e3\u84cb\u306e\u5909\u5316\u306f\u300115\u4f8b\u4e2d5\u4f8b(33%)\u306b\u8a8d\u3081\u3089\u308c\u308b\u9ad8\u53e3\u84cb\u3067\u3042\u308a\u3001\u3053\u308c\u306b\u306f\u672c\u7a3f\u3067\u5831\u544a\u3057\u305f\u3082\u306e\u3082\u542b\u307e\u308c\u308b\u3002 \u6700\u3082\u983b\u7e41\u306b\u89b3\u5bdf\u3055\u308c\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306f\u3001\u60a3\u800515\u4eba\u4e2d3\u4eba(20%)\u3067\u540c\u5b9a\u3055\u308c\u305f\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u3067\u3042\u308b\u304c\u3001Fallot\u56db\u5fb4\u75c7\u306f\u6211\u3005\u306e\u60a3\u8005\u3067\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u3002 \u624b\u8db3\u306e\u7570\u5e38\u306b\u306f\u3001\u4e00\u822c\u7684\u306b\u5185\u53cd\u8db3(4\/15\u300127%)\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u6211\u3005\u306e\u60a3\u8005\u306b\u3082\u8a8d\u3081\u3089\u308c\u305f\u3002\u304f\u3082\u819c\u6307\u75c7(2\/15\u300113%)\u3082\u542b\u307e\u308c\u3066\u3044\u305f\u3002 \u672c\u60a3\u8005\u3067\u89b3\u5bdf\u3055\u308c\u305f\u5225\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u3001\u518d\u767a\u6027\u4e0a\u6c17\u9053\u611f\u67d3\u3067\u3042\u308a\u3001\u4ed6\u306e10q22q23 DS\u75c7\u4f8b\u3067\u306f\u5831\u544a\u3055\u308c\u306a\u304b\u3063\u305f\u3002 \u8457\u8005\u3089\u306e\u60a3\u8005\u3067\u691c\u51fa\u3055\u308c\u305f10q22.3q23.2\u306e7.8Mb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u9818\u57df\u5185\u306b16\u306eOMIM\u907a\u4f1d\u5b50\u304c\u3042\u308b\u3002 \u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u3044\u304f\u3064\u304b\u3001\u4f8b\u3048\u3070\u3001BMPR1A(601299)\u3001LDB3(605906)\u3001GRID1(610659)\u3001\u304a\u3088\u3073NRG3(605533)\u306f\u3001\u8868\u73fe\u578b\u306b\u95a2\u9023\u3059\u308b\u63a8\u5b9a\u5019\u88dc\u907a\u4f1d\u5b50\u3068\u3057\u3066\u3001\u7279\u306b\u795e\u7d4c\u5fc3\u7406\u5b66\u7684\u767a\u9054\u304a\u3088\u3073\u5fc3\u81d3\u6b20\u640d\u306b\u95a2\u3057\u3066\u4eee\u5b9a\u3055\u308c\u3066\u3044\u308b[Balciuniene\u3089 2007; van Bon\u3089 2011; Breckpot\u3089 2012]\u3002 \u658e\u85e4\u3089 [2012]\u795e\u7d4c\u5824\u7531\u6765\u7d30\u80de\u306b\u304a\u3051\u308b\u5909\u7570\u30de\u30a6\u30b9\u30ce\u30c3\u30af\u30a2\u30a6\u30c8BMPR1A\u86cb\u767d\u8cea\u306e\u5fc3\u81d3\u5f62\u614b\u3092\u8a55\u4fa1\u3057\u3001\u305d\u308c\u3089\u306e\u3044\u304f\u3064\u304b\u306f\u5fc3\u81d3\u6b20\u640d\u4ee5\u5916\u306b\u9854\u9762\u88c2\u3084\u53e3\u84cb\u88c2\u306a\u3069\u306e\u9854\u9762\u878d\u5408\u6b20\u640d\u3001\u307e\u305f\u306f\u9854\u9762\u7570\u5f62\u7279\u5fb4\u3092\u793a\u3059\u3053\u3068\u3092\u793a\u3057\u305f\u3002 \u3053\u306e\u3088\u3046\u306b\u3001\u8457\u8005\u3089\u306e\u60a3\u8005\u3067\u89b3\u5bdf\u3055\u308c\u305f\u982d\u84cb\u9854\u9762\u7570\u5f62\u304a\u3088\u3073\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306f\u3001BMPR1A\u907a\u4f1d\u5b50\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u3088\u3063\u3066\u90e8\u5206\u7684\u306b\u5f15\u304d\u8d77\u3053\u3055\u308c\u305f\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>BMPR1A\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u70b9\u7a81\u7136\u5909\u7570\u307e\u305f\u306f\u90e8\u5206<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u3001\u80c3\u8178\u7ba1\u306b\u904e\u8aa4\u816b\u6027\u30dd\u30ea\u30fc\u30d7\u304c\u767a\u751f\u3059\u308b\u3053\u3068\u3092\u7279\u5fb4\u3068\u3059\u308b\u82e5\u5e74\u6027\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u75c7\u5019\u7fa4(OMIM 174900)\u3068\u3082\u95a2\u9023\u3057\u3066\u3044\u308b[Larsen \u3068 Howe, 2017]\u3002 10q22.3q23.2<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u60a3\u8005\u306e\u3046\u3061\u3001\u4e73\u5150\u82e5\u5e74\u6027\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u75c7\u5019\u7fa4\u3068\u547c\u3070\u308c\u308b\u82e5\u5e74\u6027\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u75c7\u5019\u7fa4\u306e1\u3064\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306f\u3001BMPR1A\u304a\u3088\u3073PTEN\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3057\u3066\u3044\u308b\u60a3\u8005\u306b\u306e\u307f\u89b3\u5bdf\u3055\u308c\u3066\u3044\u308b[Menko\u3089\u30012008]\u3002 PTEN\u306f\u3001\u8a8d\u8b58\u3055\u308c\u305f\u816b\u760d\u6291\u5236\u56e0\u5b50\u306e\u5f79\u5272[Li\u3089 1997]\u3092\u6709\u3057\u3001\u30ab\u30a6\u30c7\u30f3\u75c7\u5019\u7fa4\u304a\u3088\u3073Bannayan-Riley-Ruvalcaba\u75c7\u5019\u7fa4\u3068\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u767a\u75c7\u306b\u306fBMPR1A\u304a\u3088\u3073PTEN\u306e\u4e21\u65b9\u306e\u9023\u7d9a\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304c\u5fc5\u8981\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b[Zhou\u3089 2003; Dahdaleh\u3089 2012]\u3002 PTEN\u306f\u3001LCR 3\/4\u5074\u976210q22.3q23.2<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3067\u306f\u5b58\u5728\u305b\u305a\u3001\u540c\u69d8\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u60a3\u8005\u3067\u306f\u3001\u4e73\u5150\u671f\u306e\u82e5\u5e74\u6027\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u307e\u305f\u306f\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u8868\u73fe\u578b\u3092\u767a\u73fe\u3057\u305f\u3068\u5831\u544a\u3055\u308c\u305f\u60a3\u8005\u306f\u3044\u306a\u304b\u3063\u305f[Petrova\u3089 2014]\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>LDB3\u306f\u3001\u7d30\u80de\u9aa8\u683c\u30a2\u30bb\u30f3\u30d6\u30ea\u306b\u95a2\u4e0e\u3059\u308bLIM\u7d50\u5408\u30c9\u30e1\u30a4\u30f33\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570\u306f\u3001\u30d2\u30c8\u306b\u304a\u3051\u308b\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u3068\u95a2\u9023\u3057\u3066\u3044\u308b[Vatta\u3089 2002; Hershberger\u3089 2008]\u3002 \u5fc3\u81d3\u306e\u6a5f\u80fd\u307e\u305f\u306f\u69cb\u9020\u306b\u304a\u3051\u308b\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5f71\u97ff\u306f\u3001\u7814\u7a76\u4e2d\u3067\u3042\u308b[Aliman\u3089\u30012010]\u3002<\/p>\n\n\n\n<p>GRID1\u907a\u4f1d\u5b50\u306f\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f53\u30c1\u30e3\u30cd\u30eb\u306e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306b\u304a\u3051\u308b\u8208\u596e\u6027\u30b7\u30ca\u30d7\u30b9\u4f1d\u9054\u3092\u5a92\u4ecb\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u308b[Yamazaki\u3089\u30011992]\u3002 Vasan\u3089 [2009]\u306f\u3001\u5fc3\u81d3\u69cb\u9020\u3068\u6a5f\u80fd\u306b\u95a2\u9023\u3059\u308b\u5171\u901a\u306e\u907a\u4f1d\u7684\u5909\u7570\u4f53\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u95a2\u9023\u30e1\u30bf\u30a2\u30ca\u30ea\u30b7\u30b9\u3092\u901a\u3057\u3066\u3001\u5de6\u5ba4\u58c1\u539a\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u3068\u3057\u3066GRID1\u3092\u63d0\u6848\u3057\u305f\u3002 \u3055\u3089\u306b\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u7814\u7a76[Fallin\u3089 2005; Coyle, 2006; van Bon\u3089 2011]\u3067\u3082\u7d71\u5408\u5931\u8abf\u75c7\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3002 GRID1\u306e\u8fd1\u4f4d\u306b\u4f4d\u7f6e\u3057\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u304a\u3088\u3073\u75c7\u72b6\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u5225\u306e\u907a\u4f1d\u5b50\u306f\u3001NRG3[Chen\u3089 2009]\u3067\u3042\u308b\u3002NRG3\u306f\u3001\u795e\u7d4c\u7cfb\u3001\u5fc3\u81d3\u3001\u4e73\u623f\u3001\u304a\u3088\u3073\u4ed6\u306e\u5668\u5b98\u7cfb\u306b\u304a\u3051\u308b\u7d30\u80de\u9593\u76f8\u4e92\u4f5c\u7528\u3092\u5a92\u4ecb\u3059\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u304a\u3044\u3066\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b[Falls, 2003]\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u8457\u8005\u3089\u306e\u60a3\u8005\u306f16q12.1(189 kb)\u306b\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3057\u3066\u3044\u308b\u3002 \u3053\u306e\u9818\u57df\u306f2\u3064\u306eOMIM\u907a\u4f1d\u5b50: NETO2(607974)\u304a\u3088\u3073ITFG1(611803)\u3092\u542b\u3080\u3002 NETO2\u306f\u30ab\u30a4\u30cb\u30f3\u9178\u53d7\u5bb9\u4f53\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3042\u308a\u3001\u8133\u5185\u306e\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u6a5f\u69cb\u306b\u6709\u610f\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b[Zhang\u3089 2009]\u3002 ITFG1\u306f\u3001\u63d0\u5531\u3055\u308c\u3066\u3044\u308b\u7d30\u80de\u63a5\u7740\u6a5f\u80fd\u3092\u6709\u3059\u308b\u819c\u8cab\u901a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b[Kato\u3089\u30012014]\u3002 \u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u3001DGV\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9(http:\/\/projects.tcag.ca\/variation)\u306e\u500b\u4eba\u3067\u306f\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u3002 DECIPHERDatabase(https:\/\/decipher.sanger.ac.uk\/),\u3001\u672c\u75c7\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u5305\u542b\u3059\u308b\u306f\u308b\u304b\u306b\u5927\u304d\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>)\u3067\u306f\u30012\u4f8b(2856\u4f8b\u304a\u3088\u3073289229\u4f8b)\u306b\u8a8d\u3081\u3089\u308c\u305f\u552f\u4e00\u306e\u6240\u898b\u3068\u3057\u3066\u8a18\u8f09\u3055\u308c\u3066\u304a\u308a\u3001\u672c\u75c7\u4f8b\u3068\u5171\u901a\u3057\u305f\u767a\u9054\u9045\u5ef6\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 \u307e\u305f\u3001DECIPHER\u7531\u6765\u306e\u75c7\u4f8b289229\u306f\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u3067\u3042\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u5448\u3057\u305f\u3002 \u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304c\u8868\u73fe\u578b\u306b\u53ca\u307c\u3059\u91cd\u8981\u6027\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u985e\u4f3c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u3082\u3064\u4ed6\u306e\u500b\u4f53\u306b\u3064\u3044\u3066\u306e\u3088\u308a\u8a73\u7d30\u306a\u60c5\u5831\u3001\u7279\u306b\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u7279\u7570\u7684\u306a\u6a5f\u80fd\u306b\u3064\u3044\u3066\u306e\u3088\u308a\u8a73\u7d30\u306a\u60c5\u5831\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002 \u3055\u3089\u306b\u300110q22q23 DS\u60a3\u800515\u4f8b\u4e2d3\u4f8b\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304c\u8a8d\u3081\u3089\u308c(<strong>\u88681<\/strong>)\u3001\u8868\u73fe\u578b\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u305f\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u6700\u8fd1\u3001\u5927\u304d\u306a\u30b2\u30ce\u30e0\u30b9\u30b1\u30fc\u30eb\u306e\u69cb\u9020\u7684\u5909\u7570\u4f53\u3001\u3059\u306a\u308f\u3061\u3001DNA\u306e\u5de8\u5927\u5869\u57fa\u3092\u542b\u3080\u5909\u5316\u306f\u3001\u30ef\u30f3\u30aa\u30d5\u4e8b\u8c61(\u30af\u30ed\u30e2\u30a2\u30ca\u30b7\u30f3\u30bb\u30b7\u30b9\u304a\u3088\u3073\u30af\u30ed\u30e2\u30c8\u30ea\u30d7\u30b7\u30b9\u69d8\u4e8b\u8c61)\u306b\u304a\u3044\u3066\u751f\u6210\u3055\u308c\u308b\u4ed6\u306e\u69cb\u9020\u7684\u5909\u7570\u4f53\u3001\u307e\u305f\u306f\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u306e\u6b20\u5982\u3092\u4f34\u3046\u8907\u96d1\u306a\u30b2\u30ce\u30e0\u518d\u7de8\u6210\u306a\u3069\u3001\u3055\u3089\u306a\u308b\u8907\u96d1\u6027\u3068\u95a2\u9023\u3057\u5f97\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b[Carvalo \u3068 Lupski, 2016]\u3002 \u7570\u306a\u308b\u75be\u60a3\u8868\u73fe\u578b\u306f\u7570\u306a\u308b\u5668\u5b98\u7cfb\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u304c\u3001\u91cd\u8907\u3059\u308b\u75be\u60a3\u8868\u73fe\u578b\u306f\u540c\u3058\u7d4c\u8def\u5185\u3067\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b2\u3064\u306e\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3002 \u8907\u6570\u306e\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u75c5\u539f\u6027\u5909\u7570\u4f53\u9593\u306e\u3053\u306e\u76f8\u4e92\u4f5c\u7528\u306f\u30011\u4eba\u306e\u60a3\u8005\u5185\u3067\u8868\u73fe\u578b\u306b\u95a2\u3057\u3066\u89b3\u5bdf\u3055\u308c\u308b\u8907\u96d1\u306a\u30b9\u30da\u30af\u30c8\u30eb\u3092\u3082\u305f\u3089\u3057\u3001\u95a2\u9023\u3059\u308b\u30b2\u30ce\u30e0\u969c\u5bb3\u306e\u53ef\u5909\u6027\u306b\u5bc4\u4e0e\u3059\u308b[Posey\u3089 2017]\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>\u6211\u3005\u306e\u60a3\u8005\u306b\u8a8d\u3081\u3089\u308c\u305f\u81e8\u5e8a\u5fb4\u5019\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u307e\u308c\u306a10q22q23 DS\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u6211\u3005\u306e\u60a3\u8005\u304a\u3088\u3073\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u4ed6\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u77e5\u898b\u306f\u3001\u30b3\u30a2\u8868\u73fe\u578b\u306e\u7279\u5fb4\u4ed8\u3051\u3092\u53ef\u80fd\u306b\u3057\u306a\u3044\u3002 \u3055\u3089\u306b\u3001\u8868\u73fe\u578b\u306b\u5bfe\u3059\u308b16q12.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306e\u5f71\u97ff\u3092\u6392\u9664\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u306a\u3044\u3002<\/p>\n\n\n\n<p>\u82e5\u5e74\u60a3\u8005\u306b\u304a\u3051\u308b\u307e\u308c\u3067\u65b0\u3057\u3044\u30b2\u30ce\u30e0\u4e0d\u5747\u8861\u306e\u540c\u5b9a\u306f\u3001\u884c\u52d5\u7570\u5e38\u304a\u3088\u3073\u767a\u9054\u9045\u5ef6\u306b\u5bfe\u3059\u308b\u65e9\u671f\u4ecb\u5165\u3092\u53ef\u80fd\u306b\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u81e8\u5e8a\u7ba1\u7406\u3092\u5909\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u307e\u305f\u7279\u7570\u7684\u306a\u8ffd\u8de1\u3092\u78ba\u5b9f\u306b\u3059\u308b\u3002 \u3055\u3089\u306b\u75c7\u4f8b\u3092\u8ffd\u52a0\u3059\u308c\u3070\u3001\u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u76f8\u95a2\u304a\u3088\u3073\u3053\u306e\u75be\u60a3\u306e\u75c5\u56e0\u306b\u5bfe\u3059\u308b\u8907\u6570\u306e\u7a00\u306a\u5909\u7570\u4f53\u306e\u52b9\u679c\u304c\u6539\u5584\u3055\u308c\u308b\u3067\u3042\u308d\u3046\u3002<\/p>\n<\/div><\/div>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> LCR3\/4\u306b\u96a3\u63a5\u3059\u308b10q22.3q23.3\u6b20\u5931\u3092\u6709\u3059\u308b\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u7279\u5fb4<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:5%\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:5%\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:4%\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col>\n    <col style=\"width:calc(100% \/ 12)\">\n    <col>\n    <col style=\"width:calc(100% \/ 12)\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u53c2\u8003\u6587\u732e\u3001\u75c7\u4f8b<\/th><th>\u524a\u9664\u30b5\u30a4\u30ba<\/th><th>\u76f8\u7d9a<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a><\/th><th>\u8a55\u4fa1\u6642\u306e\u5e74\u9f62<\/th><th>\u767a\u9054\u9045\u5ef6<\/th><th>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/th><th>Palate\u306e\u5909\u66f4<\/th><th>\u984e\u9854\u9762\u306e\u7570\u5f62\u6027<\/th><th>\u624b\u8db3\u306e\u5909\u5316<\/th><th>\u305d\u306e\u4ed6\u306e\u81e8\u5e8a\u7684\u7279\u5fb4<\/th><th>\u305d\u306e\u4ed6\u306e\u5947\u5f62<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td colspan=\"12\">\u30d0\u30eb\u30b7\u30e6\u30cb\u30a8\u30f3\u4ed6 [2007]<\/td>\n<\/tr>\n<tr>\n<td>UM10qDel-01<\/td><td>7.5 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>3\u6b736\u304b\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u8efd\u5ea6\u306e\u7279\u5fb4<\/td><td>&#8211;<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a><\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>JHU10qDel-01<\/td><td>7.5 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>1\u6b736\u304b\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u767d\u8272\u524d\u30ed\u30c3\u30af<\/td><td>&#8211;<\/td><td>\u5c0f\u8133\u5f8c\u90e8\u3001\u5c0f\u56a2\u80de\u3001\u5c0f\u8133<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">\u30a2\u30ea\u30de\u30f3\u3089 [2010]<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b1<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>2\u6b737\u304b\u6708<\/td><td>+<\/td><td>\u52d5\u8108\u7ba1\u958b\u5b58<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u84cb<\/td><td>\u8efd\u5ea6\u306e\u9ad8\u8272\u7d20\u75c7\u3001\u7acb\u3061\u4e0a\u304c\u3063\u305f\u773c\u77bc\u88c2\u3001\u5916\u5074\u8033\u4ecb\u306e\u904e\u5270\u306a\u6298\u308a\u7573\u307f\u3001\u8033\u8449\u306e\u3057\u308f\u3001\u7d30\u3044\u4e0a\u5507\u3001\u5c0f\u984e\u75c7<\/td><td>\u30af\u30e2\u6307\u75c7<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u3001\u95a2\u7bc0\u306e\u4f38\u5c55\u6027\u4ea2\u9032<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b2<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>17\u6b731\u304b\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u84cb<\/td><td>\u8efd\u5ea6\u306e\u9854\u9762\u975e\u5bfe\u79f0\u3001\u4e0b\u5411\u304d\u306e\u773c\u77bc\u88c2\u3001\u5883\u754c\u7dda\u4e0a\u306e\u30bb\u30c3\u30c8\u8033\u3001\u982c\u306e\u5e73\u5766\u5316\u3001\u7a81\u51fa<\/td><td>\u8efd\u5ea6\u306e\u30af\u30e2\u6307\u75c7<\/td><td>\u8efd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u95a2\u7bc0\u306e\u4f38\u5c55\u6027\u4ea2\u9032\u3001\u8fd1\u8996\u306e\u75c5\u6b74\u3001\u6ce8\u610f\u6b20\u9665\/\u904e\u6d3b\u52d5\u969c\u5bb3<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b3<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>8\u65e5\u9593<\/td><td>NA<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u8efd\u5ea6\u306e\u659c\u982d\u75c7\u3001\u9ad8\u773c\u77bc\u75c7\u3001\u8efd\u5ea6\u306e\u4e0a\u773c\u7b4b\u3072\u3060\u3001\u4f4e\u4f4d\u3001\u5f8c\u65b9\u56de\u8ee2\u8033\u3001\u72ed\u3044\u5916\u8033\u9053\u3092\u4f34\u3046\u6b63\u5e38\u982d\u75c7<\/td><td>\u4e21\u5074\u5185\u53cd\u8db3<\/td><td>\u8efd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u4e21\u5074\u6027\u96e3\u8074<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b4<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>1\u6b738\u304b\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u84cb<\/td><td>\u5de8\u982d\u75c7\u3001\u524d\u982d\u90e8\u30dc\u30c3\u30b7\u30f3\u30b0\u3001\u72ed\u3044\u771f\u5b9f\u3001\u984e\u5f8c\u75c7\u3001\u5c0f\u53e3\u3001\u4e0b\u659c\u3081\u306e\u773c\u77bc\u88c2\u3001\u9ad8\u8272\u7d20\u75c7\u3001\u5c0f\u5f8c\u8033\u3001\u4e21\u5074\u5207\u75d5\u4e2d\u9593\u87ba\u65cb<\/td><td>&#8211;<\/td><td>\u8efd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u80b2\u4e0d\u5168<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">van Bon\u3089 [2011]<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80051<\/td><td>7.2 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>22\u6b73\u4ee5\u4e0a<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u672b\u68a2\u6a5f\u80fd\u4f4e\u4e0b\u3001\u8d77\u7acb\u6027\u773c\u77bc\u88c2\u3001\u773c\u77bc\u4e0b\u5782\u3001\u4f4e\u4f4d\u5c0f\u8033<\/td><td>\u5e83\u6bcd\u6307\u3068\u6bcd\u8dbe<\/td><td>\u4e73\u623f\u5f62\u6210\u4e0d\u5168<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80052<\/td><td>7.2 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>2\u6b736\u304b\u6708<\/td><td>+<\/td><td>\u5fc3\u623f\u5ba4\u4e2d\u9694\u6b20\u640d<\/td><td>&#8211;<\/td><td>\u9ad8\u773c\u77bc\u75c7\u3001\u524d\u637b\u9f3b\u5b54\u3001\u5e73\u5766\u306a\u9f3b\u6a4b\u3001\u5927\u304d\u306a\u53e3\u3001\u30c6\u30ec\u30ab\u30f3\u30b5\u30b9\u3001\u8033\u4ecb\u4f4e\u4f4d<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80053<\/td><td>7.7 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>3\u6b737\u304b\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u84cb<\/td><td>\u30c9\u30ea\u30b3\u30bb\u30d5\u30a1\u30ea\u30fc\u3001\u9ad8\u773c\u77bc\u75c7\u3001\u773c\u77bc\u4e0a\u3072\u3060\u3001\u5e73\u5766\u306a\u9f3b\u6a4b\u3001\u9854\u9762\u4e2d\u592e\u306e\u9665\u6ca1\u3001\u8033\u4ecb\u4f4e\u4f4d<\/td><td>\u5f8c\u7f6e\u6bcd\u6307<\/td><td>\u60aa\u6027\u6b6f\u3001\u30ad\u30a2\u30eaI\u5947\u5f62\u3001\u3066\u3093\u304b\u3093<\/td><td>de novo 2q36.3\u8907\u88fd(722 kb)<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80054<\/td><td>7.7 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>12\u6b73<\/td><td>+<\/td><td>TR\u3001\u80ba\u52d5\u8108\u5f01\u9006\u6d41<\/td><td>&#8211;<\/td><td>\u9577\u9854\u3001\u30cf\u30a4\u30d1\u30fc\u30ed\u30ea\u30ba\u30e0\u3001\u30a2\u30fc\u30e2\u30f3\u30c9\u5f62\u306e\u773c<\/td><td>\u6a48\u5c3a\u9aa8\u7652\u5408\u3001\u5074\u5f2f\u3001\u5f8c\u5f2f\u3001\u6f0f\u6597\u80f8<\/td><td>\u30ab\u30d5\u30a7\u30aa\u30ec\u6591\u70b9<\/td><td>47,XYY<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80055<\/td><td>7.5 Mb<\/td><td>\u6bcd\u89aa\u7531\u6765<\/td><td>\u7537\u6027<\/td><td>5\u6b73<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u9ad8\u773c\u77bc\u75c7\u3001\u9f3b\u306e\u5e83\u3044\u5e95\u90e8\u3001\u5e73\u5766\u306a\u9f3b\u6a4b\u3001\u8033\u4ecb\u4f4e\u4f4d<\/td><td>\u4e21\u5074\u5185\u53cd\u8db3<\/td><td>\u9670\u56a2\u3092\u30b7\u30e7\u30fc\u30eb\u3059\u308b<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">Reddy\u3089 [2011]<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b2<\/td><td>7.7 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>4\u6b73<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u5e45\u5e83\u306e\u9f3b\u3001\u53cd\u8ee2\u3057\u305f\u4e0b\u5507\u3001\u7dd1\u8272\u306e\u5883\u754c<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">Singh\u3089 [2011]<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b\u5831\u544a<\/td><td>7.46 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>5\u6b736\u304b\u6708<\/td><td>+<\/td><td>\u5fc3\u623f\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d<\/td><td>&#8211;<\/td><td>\u8efd\u5ea6\u306e\u5929\u84cb\u88c2\u3001\u53f3\u65b9\u5411\u306e\u5916\u659c\u8996<\/td><td>\u89d2\u8cea\u5897\u6b96\u75c7\u3001\u7b2c5\u8dbe\u306e\u722a<\/td><td>\u6301\u7d9a\u6027\u3001\u983b\u8108\u6027\u306e\u547c\u5438\u3001\u518d\u767a\u6027\u4e2d\u8033\u708e \u4e2d\u8033\u708e<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">Petrova\u3089 [2014]<\/td>\n<\/tr>\n<tr>\n<td>\u81e8\u5e8a\u5831\u544a<\/td><td>7.3 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>2\u6b73<\/td><td>&#8211;<\/td><td>\u5fc3\u623f\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u3001\u6301\u7d9a\u6027\u5375\u5186\u5b54<\/td><td>\u6b63\u4e2d\u53e3\u84cb\u88c2<\/td><td>\u9ad8\u773c\u77bc\u75c7\u3001\u9ad8\u984d\u3001\u5e83\u7bc4\u306a\u9f3b\u6a4b\u3001\u7acb\u3061\u4e0a\u304c\u3063\u305f\u773c\u77bc\u88c2\u3001\u4e0a\u984e\u9aa8\u30d2\u30c0\u3001\u984e\u5f8c\u90e8\u3001\u820c\u4e0b\u5782<\/td><td>\u53f3\u5074\u5185\u53cd\u8db3<\/td><td>\u2013<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u73fe\u5728\u306e\u75c7\u4f8b<\/td><td>7.8 Mb<\/td><td>\u4e0d\u660e<\/td><td>\u7537\u6027<\/td><td>3\u6b73<\/td><td>+<\/td><td>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u84cb<\/td><td>\u524d\u982d\u7a81\u8d77\u3001\u4f4e\u4f4d\u3067\u308f\u305a\u304b\u306b\u524d\u637b\u3057\u305f\u8033\u4ecb\u3001\u4e21\u5074\u306e\u904e\u5ea6\u306b\u6298\u308a\u305f\u305f\u307e\u308c\u305f\u8033\u8f2a\u3001\u9855\u8457\u306a\u53f3\u53cd\u8033\u8f2a\u3001\u53f3\u8033\u4ecb\u524d\u7aa9\u3001\u8efd\u5ea6\u306e\u307e\u3086\u3001\u4e0b\u659c\u3081\u306e\u773c\u77bc\u88c2\u3001\u6d45\u773c\u7aa9\u3001\u9f3b\u7403\u5148\u7aef<\/td><td>\u4e21\u5074\u5185\u53cd\u8db3\u3001\u4e21\u5074\u4e0d\u5b8c\u5168\u638c\u5074\u3057\u308f<\/td><td>\u518d\u767a\u6027\u4e0a\u6c17\u9053\u611f\u67d3<\/td><td>16q12.1\u6b20\u5931(189 kb)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AC%9D%E8%BE%9E\"><\/span>\u8b1d\u8f9e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6211\u3005\u306f\u3001\u30d6\u30e9\u30b8\u30eb\u3001\u30b5\u30f3\u30d1\u30a6\u30ed\u306e\u30ab\u30f3\u30d4\u30ca\u30b9\u306b\u6240\u5728\u3059\u308b\u30ab\u30f3\u30d4\u30ca\u30b9\u5927\u5b66\u533b\u5b66\u90e8\u5206\u5b50\u907a\u4f1d\u5b66\u7814\u7a76\u5ba4\u306b\u304a\u3051\u308b\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306e\u5354\u529b\u3068\u3001\u30de\u30eb\u30c1\u30e6\u30fc\u30b6\u88c5\u7f6e\u306e\u7814\u7a76\u5ba4\u306b\u5bfe\u3057\u3001\u88c5\u7f6e\u3001GeneChip Fluidics Station\u3001GeneChip Scanner\u3092\u7528\u3044\u305f\u652f\u63f4\u306b\u611f\u8b1d\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u306f\u3001FAPESP \u2013 Fundaco de Amparo to Pesquissa do Estado Sano Paulo (2008\/10596-0, 2009\/08756-1, 2011\/23794-7, 2012\/51799-6)\u304a\u3088\u3073CNPq \u2013 Conselho Desolvimento Cientifico Technologico (149600\/2010-0, 471422\/2011-8)\u306e\u652f\u63f4\u3092\u53d7\u3051\u305f\u3002 V.L.G.-d.-S.-L.\u306fCNPq(30455\/2012-1)\u306b\u3088\u3063\u3066\u652f\u6301\u3055\u308c\u3066\u3044\u308b\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%80%AB%E7%90%86%E5%AE%A3%E8%A8%80\"><\/span>\u502b\u7406\u5ba3\u8a00<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u8a66\u9a13\u306f\u30ab\u30f3\u30d4\u30ca\u30b9\u5927\u5b66\u502b\u7406\u59d4\u54e1\u4f1a(No)\u306e\u627f\u8a8d\u3092\u53d7\u3051\u305f\u3002 487\/2009\u304a\u3088\u3073433\/2010\u3002 \u60a3\u8005\u306e\u4e21\u89aa\u304b\u3089\u6587\u66f8\u306b\u3088\u308b\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30fb\u30b3\u30f3\u30bb\u30f3\u30c8\u3092\u5f97\u305f\u3002 \u958b\u793a\u58f0\u660e\u8457\u8005\u306f\u3001\u3053\u306e\u8a18\u4e8b\u306e\u7814\u7a76\u3001\u8457\u8005\u6a29\u3001\u304a\u3088\u3073\/\u307e\u305f\u306f\u51fa\u7248\u306b\u95a2\u3057\u3066\u3001\u6f5c\u5728\u7684\u306a\u5229\u76ca\u76f8\u53cd\u306f\u306a\u3044\u3068\u5ba3\u8a00\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<\/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<h2 class=\"wp-block-heading\"><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><\/h2>\n\n\n\n<p>Alliman S, Coppinger J, Marcadier J, Thiese H, Brock P, et al: 10q22.3q23.2\u306b\u304a\u3051\u308b\u518d\u767a\u6027\u30b2\u30ce\u30e0\u969c\u5bb3\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u5206\u5b50\u7684\u7279\u5fb4\u4ed8\u3051\u3002 Clin Genet 78: 162-168 (2010)<\/p>\n\n\n\n<p>\u30d0\u30eb\u30b7\u30e6\u30cb\u30a8\u30f3J\u3001\u30d5\u30a7\u30f3N\u3001\u30a4\u30e4\u30c9\u30a5\u30e9\u30a4K\u3001\u30d2\u30eb\u30b7\u30e5B\u3001\u30b7\u30e3\u30eb\u30ca\u30b9L\u3089:\u518d\u767a\u602710q22-q23\u6b20\u5931:\u8a8d\u77e5\u304a\u3088\u3073\u884c\u52d5\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b10q\u4e0a\u306e\u30b2\u30ce\u30e0\u969c\u5bb3\u3002 Am J Hum Genet 80: 938\u2013947 (2007).<\/p>\n\n\n\n<p>Breckpot J, Tranchevent LC, Thienpont B, Bauters M, Troost E, et al: BMPR1A\u306f\u3001\u518d\u767a\u602710q22q23\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002 Eur J Med Genet 55: 12\u201316 (2012).<\/p>\n\n\n\n<p>Carvalho CM, Lupski JR: \u30b2\u30ce\u30e0\u969c\u5bb3\u306b\u304a\u3051\u308b\u69cb\u9020\u7684\u5909\u7570\u4f53\u5f62\u6210\u306e\u6839\u5e95\u306b\u3042\u308b\u6a5f\u5e8f\u3002 Nat Rev Genet 17: 224\u2013238 (2016). Chen PL, Avramopoulos D, Lasseter VK, Mc-Grath JA, Fallin MD, et al: \u67d3\u8272\u4f5310q22-q23\u4e0a\u306e\u30d5\u30a1\u30a4\u30f3\u30de\u30c3\u30d4\u30f3\u30b0\u306f\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306b\u304a\u3051\u308b\u30cb\u30e5\u30fc\u30ec\u30b0\u30ea\u30f33\u3092\u610f\u5473\u3059\u308b\u3002 Am J Hum Genet 84: 21\u201334 (2009).<\/p>\n\n\n\n<p>\u30b3\u30a4\u30ebJT:\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u3068\u7d71\u5408\u5931\u8abf\u75c7:\u30c9\u30d1\u30df\u30f3\u4eee\u8aac\u3092\u8d85\u3048\u3066\u3044\u308b\u3002 Cell Mol Neurobiol 26: 365\u2013384 (2006).<\/p>\n\n\n\n<p>Dahdaleh FS, Carr JC, Calva D, Howe JR: \u67d3\u8272\u4f5310q22-23\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u4f34\u3046\u82e5\u5e74\u6027\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u304a\u3088\u3073\u4ed6\u306e\u8178\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u75c7\u5019\u7fa4\u3002 Clin Genet 81: 110-116 (2012)<\/p>\n\n\n\n<p>Dufke A, Singer S, Borell-Kost S, Stotter M, Pflum DA, et al: De novo \u69cb\u9020\u7684\u67d3\u8272\u4f53\u4e0d\u5747\u8861: \u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u7279\u5fb4\u3065\u3051\u3002 \u7d30\u80de\u907a\u4f1d\u5b66\u30b2\u30ce\u30e0\u7814\u7a76114:342-350(2006)\u3002<\/p>\n\n\n\n<p>Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, et al: \u5148\u5929\u6027\u5fc3\u75be\u60a3\u304a\u3088\u3073\u5c0f\u982d\u75c7\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u65b0\u305f\u306a\u9593\u8cea\u602710q22-q23\u91cd\u8907\u306e\u5fae\u7d30\u30de\u30c3\u30d4\u30f3\u30b0<\/p>\n\n\n\n<p>Eur J Med Genet 51: 81\u201386 (2008).<\/p>\n\n\n\n<p>Fallin MD, Lasseter VK, Avramopoulos D, Nicodemus KK, Wolyniec PS, et al: Bipolar I\u969c\u5bb3\u304a\u3088\u3073\u7d71\u5408\u5931\u8abf\u75c7: \u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u30fb\u30e6\u30c0\u30e4\u4eba\u30ab\u30bb\u30d1\u30fc\u30ec\u30f3\u30c8\u30c8\u30ea\u30aa\u306e64\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u306e440-\u4e00\u5869\u57fa\u591a\u578b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0 Am J Hum Genet 77: 918\u2013936 (2005).<\/p>\n\n\n\n<p>\u8ee2\u5012DL:\u30cb\u30e5\u30fc\u30ec\u30b0\u30ea\u30f3:\u6a5f\u80fd\u3001\u5f62\u614b\u3001\u304a\u3088\u3073\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u6226\u7565\u3002 Cell Exp 284: 14-30 (2003)<\/p>\n\n\n\n<p>Goss PW\u3001Voullaire L\u3001Gardner RJ:\u67d3\u8272\u4f53\u5185\u633f\u5165\u306b\u3088\u308b\u91cd\u890710q22.1eq25.1:2\u756a\u76ee\u306e\u75c7\u4f8b\u3002 Ann Genet 41: 161-163 (1998)<\/p>\n\n\n\n<p>Han JY, Kim KH, Jun HJ, Je GH, Glotzbach CD, Shaffer LG: \u6bcd\u4f53\u306e\u633f\u5165\u8ee2\u5ea7\u306b\u3088\u308b10\u756a\u67d3\u8272\u4f53(q22-q24)\u306e\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc(15; 10)\u3002 Am J Med Genet A 131: 190\u2013193 (2004).<\/p>\n\n\n\n<p>Hershberger RE\u3001Parks SB\u3001Kushner JD\u3001Li D\u3001Ludwigsen S\u3089:\u5bb6\u65cf\u6027\u307e\u305f\u306f\u7279\u767a\u6027\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u60a3\u8005313\u4eba\u304b\u3089\u306eMYH7\u3001TNNT2\u3001SCN5A\u3001CSRP3\u3001LBD3\u3001\u304a\u3088\u3073TCAP\u3067\u540c\u5b9a\u3055\u308c\u305f\u30b3\u30fc\u30c9\u914d\u5217\u5909\u7570\u3002 Clin Transl Sci 1: 21\u201326 (2008).<\/p>\n\n\n\n<p>Kato M, Chou TF, Yu CZ, DeModena J, Sternberg PW: LINKIN\u306f\u7d30\u80de\u63a5\u7740\u306b\u5fc5\u8981\u306a\u65b0\u3057\u3044\u819c\u8cab\u901a\u86cb\u767d\u8cea\u3067\u3042\u308b\u3002 3:e04449 (2014)\u3092\u53c2\u7167\u3002<\/p>\n\n\n\n<p>Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, et al: 17q21.31<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u5206\u5b50\u7684\u63cf\u51fa\u3002 J Med Genet 45: 710-720 (2008)\u3002<\/p>\n\n\n\n<p>Larsen HJ, Howe JR: \u82e5\u5e74\u6027\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u75c7\u5019\u7fa4\u3001in Pagon RA\u3001Adam MP\u3001Ardinger HH\u3001Wallace SE\u3001Amemiya A, et al (\u7de8): GeneReviews\u00ae [Internet] (University of Washington, Seattle 1993-2017)\u3002 \u521d\u56de\u63b2\u8f09: 2003\u5e745\u670813\u65e5\u3001\u6700\u7d42\u66f4\u65b0: 2015\u5e7412\u67083\u65e5\u3002<\/p>\n\n\n\n<p>Li J, Yen C, Liaw D, Podsypanina K, Bose S, et al: PTEN\u3001\u30d2\u30c8\u306e\u8133\u3001\u4e73\u623f\u3001\u304a\u3088\u3073\u524d\u7acb\u817a\u304c\u3093\u306b\u304a\u3044\u3066\u7a81\u7136\u5909\u7570\u3057\u305f\u63a8\u5b9a\u30bf\u30f3\u30d1\u30af\u8cea\u30c1\u30ed\u30b7\u30f3\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u907a\u4f1d\u5b50\u3002 \u79d1\u5b66275:1943-1947(1997)\u3002<\/p>\n\n\n\n<p>Lupski JR, Stankiewicz P: \u30b2\u30ce\u30e0\u969c\u5bb3: \u518d\u7de8\u6210\u3068\u4f1d\u9054\u3055\u308c\u305f\u8868\u73fe\u578b\u306e\u5206\u5b50\u6a5f\u69cb\u3002 PLoS Genet 1:e49 (2005).<\/p>\n\n\n\n<p>Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, et al: PTEN\u304a\u3088\u3073BMPR1A\u907a\u4f1d\u5b50\u3092\u542b\u308010q23\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306b\u95a2\u9023\u3059\u308b\u53ef\u5909\u8868\u73fe\u578b\u3002 Clin Genet 74: 145-154 (2008)\u3002<\/p>\n\n\n\n<p>Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespin E, et al: New microdeletion and microduplication syndromes: \u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3002 Genet Mol Biol 37 Suppl 1: 210\u2013 219 (2014).<\/p>\n\n\n\n<p>Petrova E, Neuner C, Haaf T, Schmid M, Wirbelauer J, et al: LCR3\/4-\u96a3\u63a510q22.3q23.2\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u304a\u3088\u3073\u307e\u308c\u306a\u8868\u73fe\u578b\u7279\u5fb4\u3092\u6709\u3059\u308b\u5c11\u5e74\u3002 \u30e2\u30fc\u30eb\u30b7\u30f3\u30c9\u30ed\u30fc\u30e05: 19-24 (2014)<\/p>\n\n\n\n<p>Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, et al: \u591a\u5ea7\u4f4d\u30b2\u30ce\u30e0\u5909\u7570\u306b\u8d77\u56e0\u3059\u308b\u75be\u60a3\u8868\u73fe\u578b\u306e\u89e3\u660e\u3002 N Engl J Med 376: 21-31 (2017)<\/p>\n\n\n\n<p>Reddy KS, Mardach R, Bass H: 10q22.1q24.32\u5185\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306eOligoarray (105K) CGH\u5206\u6790\u3002 \u7d30\u80de\u907a\u4f1d\u5b66\u7814\u7a76132:113-120(2011)\u3002<\/p>\n\n\n\n<p>\u658e\u85e4H\u3001\u5c71\u6751KI\u3001\u9234\u6728N:\u795e\u7d4c\u5824\u7531\u6765\u7d30\u80de\u306b\u304a\u3051\u308b\u9aa8\u5f62\u6210\u86cb\u767d\u8cea\u53d7\u5bb9\u4f531A\u578b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u4f4e\u4e0b\u306f\u9854\u9762\u7570\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002 \u30c7\u30a3\u30b9\u30af\u30e2\u30c7\u30ebMech 5: 948-955 (2012)<\/p>\n\n\n\n<p>Singh S, Aftimos S, George A, Love DR: 10q23.1\u306e\u9593\u8cea\u6027\u6b20\u5931\u304a\u3088\u30733\u3064\u306e10qdel\u75c7\u5019\u7fa4\u306e\u78ba\u8a8d\u3002 \u30b7\u30f3\u30ac\u30dd\u30fc\u30eb\u30e1\u30c3\u30c9J52:e143-146(2011)<\/p>\n\n\n\n<p>\u30b9\u30e9\u30dc\u30c1\u30cd\u30c3\u30afAM:\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306b\u3088\u308a\u691c\u51fa\u3055\u308c\u305f\u65b0\u898f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3002 Hum Genet 124: 1-17 (2008)\u3002<\/p>\n\n\n\n<p>van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, et al: \u518d\u767a\u602710q22q23\u6b20\u5931\u304a\u3088\u3073\u91cd\u8907\u306e\u8868\u73fe\u578b\u3002<\/p>\n\n\n\n<p>Eur J Hum Genet 19: 400\u2013408 (2011).<\/p>\n\n\n\n<p>Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, et al: \u5fc3\u81d3\u306e\u69cb\u9020\u304a\u3088\u3073\u6a5f\u80fd\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u7684\u5909\u7570\u4f53: \u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u95a2\u9023\u30c7\u30fc\u30bf\u306e\u30e1\u30bf\u30a2\u30ca\u30ea\u30b7\u30b9\u304a\u3088\u3073\u8907\u88fd\u3002 \u81ea\u5de5\u4f1a302:168-178(2009)<\/p>\n\n\n\n<p>Vatta M, Stetson SJ, Perez-Verdia A, Entman ML, Noon GP, et al: \u672b\u671f\u5fc3\u7b4b\u75c7\u60a3\u8005\u306b\u304a\u3051\u308b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u306e\u5206\u5b50\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u304a\u3088\u3073\u88dc\u52a9\u88c5\u7f6e\u7642\u6cd5\u3092\u53d7\u3051\u3066\u3044\u308b\u60a3\u8005\u306b\u304a\u3051\u308b\u56de\u5fa9\u3002 Lancet 359: 936-941 (2002)<\/p>\n\n\n\n<p>Yamazaki M\u3001Araki K\u3001Shibata A\u3001Mishina M\u3089:\u30de\u30a6\u30b9\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f53\u30c1\u30e3\u30cd\u30eb\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u65b0\u898f\u30e1\u30f3\u30d0\u30fc\u3092\u30b3\u30fc\u30c9\u3059\u308bcDNA\u306e\u5206\u5b50\u30af\u30ed\u30fc\u30cb\u30f3\u30b0\u3002 Biochem Biophys Res Commun 183: 886\u2013892 (1992).<\/p>\n\n\n\n<p>Zhang W, St-Gelais F, Grabner CP, Trinidad JC, Sumioka A, et al: \u30ab\u30a4\u30cb\u30f3\u9178\u578b\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f53\u3092\u8abf\u7bc0\u3059\u308b\u819c\u8cab\u901a\u526f\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3002 \u30cb\u30e5\u30fc\u30ed\u30f361:385-396(2009)\u3002<\/p>\n\n\n\n<p>Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, et al: Germline PTEN\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u7a81\u7136\u5909\u7570\u304a\u3088\u3073Cowden\/Bannayan-Riley-Ruvalcaba\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u6b20\u5931\u306f\u3001\u7570\u5e38\u306aPTEN\u30bf\u30f3\u30d1\u30af\u8cea\u304a\u3088\u3073\u30db\u30b9\u30db\u30a4\u30ce\u30b7\u30c8\u30fc\u30eb-3-\u30ad\u30ca\u30fc\u30bc\/Akt\u7d4c\u8def\u306e\u8abf\u7bc0\u7570\u5e38\u3092\u3082\u305f\u3089\u3059\u3002 Am J Hum Genet 73: 404\u2013411 (2003).<\/p>\n<\/div><\/div>\n\n\n\n    <a href=\"\/nipt\/bhatt-2019-uog-v2-performance\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">VeriSeq\u2122 NIPT Solution v2\u306b\u3088\u308b\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9PCR\u30d5\u30ea\u30fc\u306e\u6027\u80fd\u3068\u30da\u30a2\u30a8\u30f3\u30c9\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u57fa\u3065\u304f\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">VeriSeq\u2122 NIPT Solution v2\u306b\u3088\u308bNIPT\u691c\u67fb\u306b\u3064\u3044\u3066\u306e\u8aac\u660e\u30da\u30fc\u30b8\u3067\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"Miriam Coelho Molck &#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/\">\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":[43,49,73],"class_list":["post-18598","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18598","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=18598"}],"version-history":[{"count":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18598\/revisions"}],"predecessor-version":[{"id":109708,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18598\/revisions\/109708"}],"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=18598"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=18598"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=18598"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}