{"id":18564,"date":"2021-10-25T23:01:38","date_gmt":"2021-10-25T14:01:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=18564"},"modified":"2025-08-11T14:42:25","modified_gmt":"2025-08-11T05:42:25","slug":"19p13-13","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/","title":{"rendered":"\u65b0\u3057\u304419p13.13\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4"},"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>Michelle Dolan, MD<sup>1<\/sup>, Nancy J. Mendelsohn, MD<sup>2,3<\/sup>, Mary Ella Pierpont, MD, PhD<sup>2,3,4<\/sup>, Lisa A. Schimmenti, MD<sup>4<\/sup>, Susan A. Berry, MD<sup>4<\/sup>, and Betsy Hirsch, PhD<sup>1<\/sup><\/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=\"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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/#%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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/#%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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/#%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%9B%AE%E7%9A%84\"><\/span>\u76ee\u7684<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u30a2\u30ec\u30a4\u30d9\u30fc\u30b9\u306e\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308b\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u306f\u3001\u65b0\u898f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u306e\u5fae\u5c0f\u6b20\u5931<\/a>\u304a\u3088\u3073\/\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u91cd\u8907<\/a>\u75c7\u5019\u7fa4\u306e\u767a\u898b\u306e\u6025\u901f\u306a\u5897\u52a0\u3092\u3082\u305f\u3089\u3057\u305f\u3002 \u3053\u3053\u3067\u306f\u300119p13.13\u306e\u65b0\u898f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907<\/a>\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u7d30\u80de\u30b2\u30ce\u30e0\u76f8\u95a2\u306b\u3064\u3044\u3066\u8ff0\u3079\u308b\u3002 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\u8a73\u7d30\u306a\u81e8\u5e8a\u6240\u898b\u304a\u3088\u3073\u30a2\u30ec\u30a4\u30d7\u30ed\u30d5\u30a3\u30fc\u30eb\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u3001\u6bd4\u8f03\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u7d50\u679c:19p13.13\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u60a3\u8005\u306f\u3001\u72ec\u7279\u306e\u4e00\u9023\u306e\u8868\u73fe\u578b\u7570\u5e38\u3092\u5171\u6709\u3059\u308b\u3002 \u767a\u9054\u969c\u5bb3\u306b\u52a0\u3048\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u3001\u904e\u6210\u9577\u3001\u5de8\u982d\u75c7\u3001\u304a\u3088\u3073\u773c\u79d1\u7684\u304a\u3088\u3073\u6d88\u5316\u7ba1\u6240\u898b\u304c\u307f\u3089\u308c\u305f\u3002\u5bfe\u7167\u7684\u306b\u3001\u5358\u4e00\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u91cd\u8907<\/a>\u306f\u3001\u6210\u9577\u9045\u5ef6\u304a\u3088\u3073\u5c0f\u982d\u75c7\u304c\u307f\u3089\u308c\u305f\u3002 \u7d50\u8ad6:\u3053\u306e\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5909\u7570\u306b\u95a2\u9023\u3059\u308b\u4e00\u8cab\u3057\u305f\u81e8\u5e8a\u6240\u898b\u3092\u96c6\u7a4d\u3059\u308b\u3068\u300119p13.13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u547c\u3076\u306e\u304c\u59a5\u5f53\u3067\u3042\u308d\u3046\u3002 16\u500b\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u30aa\u30fc\u30d0\u30fc\u30e9\u30c3\u30d7\u306e\u7d04311\uff5e340 Kb\u306e\u6700\u5c0f\u9818\u57df\u304c\u540c\u5b9a\u3055\u308c\u305f\u3002 \u5019\u88dc\u907a\u4f1d\u5b50\u3068\u3057\u3066\u306f\u3001MAST1\u3001NFIX\u3001\u304a\u3088\u3073CALR\u304c\u6319\u3052\u3089\u308c\u308b\u3002 \u3053\u306e\u75c7\u5019\u7fa4\u306e\u540c\u5b9a\u306f\u3001\u3053\u306e\u30b3\u30d4\u30fc\u6570\u5909\u7570\u578b\u3092\u6709\u3059\u308b\u60a3\u8005\u306b\u8a3a\u65ad\u7684\u7cbe\u5bc6\u691c\u67fb\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3092\u3059\u308b\u3053\u3068\u3092\u63a8\u5968\u3059\u308b\u3002 \u8a73\u7d30\u306a\u81e8\u5e8a\u30c7\u30fc\u30bf\u3068\u30a2\u30ec\u30a4\u30c7\u30fc\u30bf\u306e\u7d71\u5408\u306f\u3001\u60a3\u8005\u30b1\u30a2\u3068\u30d2\u30c8\u30b2\u30ce\u30e0\u7814\u7a76\u306e\u4e21\u65b9\u3092\u9032\u6b69\u3055\u305b\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>Genet 2010:12(8):503-511\u3092\u6e80\u305f\u3059\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>\u30a2\u30ec\u30a4CGH\u3001\u67d3\u8272\u4f5319p13\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u91cd\u8907<\/a>\u3001\u75c7\u5019\u7fa4<\/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<p>\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u969c\u5bb3\u304a\u3088\u3073\/\u307e\u305f\u306f\u8868\u73fe\u578b\u7570\u5e38\u3092\u6709\u3059\u308b\u60a3\u8005\u306e\u30eb\u30fc\u30c1\u30f3\u306e\u8a55\u4fa1\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u6280\u8853\u3092\u7d44\u307f\u8fbc\u3080\u3053\u3068\u306b\u3088\u308a\u3001\u591a\u6570\u306e\u53cd\u5fa9\u6027\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907<\/a>\u306e\u8fc5\u901f\u306a\u767a\u898b\u304c\u3082\u305f\u3089\u3055\u308c\u3066\u3044\u308b\u3002 \u4f8b\u3048\u3070\u3001\u308f\u305a\u304b2\u5e74\u9593\u306e\u9593\u306b\u30011q21.1<sup>1,2<\/sup>\u304a\u3088\u307316p11.2<sup>3,4<\/sup>\u306e\u30b2\u30ce\u30e0\u9818\u57df\u306b\u5bfe\u3059\u308b\u3053\u308c\u307e\u3067\u306b\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u55aa\u5931\u304a\u3088\u3073\/\u307e\u305f\u306f\u7372\u5f97\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u304a\u3088\u3073\u95a2\u9023\u75be\u60a3\u306e\u6f5c\u5728\u7684\u306a\u75c5\u56e0\u56e0\u5b50\u3068\u3057\u3066\u5e83\u304f\u8a8d\u8b58\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3002 \u5f93\u6765\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u691c\u51fa\u3067\u304d\u306a\u3044\u67d3\u8272\u4f53\u9818\u57df\u304c\u5c0f\u3055\u3059\u304e\u308b\u81e8\u5e8a\u7684\u610f\u7fa9\u306e\u3042\u308b\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53(CNV)\u304c\u3001\u30d2\u30c8\u6838\u578b\u306e\u3059\u3079\u3066\u306e\u67d3\u8272\u4f53\u5bfe\u306b\u3064\u3044\u3066\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u4e00\u90e8\u306e\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u3067\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u767a\u73fe\u304a\u3088\u3073\u6d78\u900f\u5ea6\u306e\u3070\u3089\u3064\u304d\u304c\u81e8\u5e8a\u7684\u610f\u7fa9\u306e\u78ba\u7acb\u3092\u8907\u96d1\u306b\u3057\u3066\u3044\u308b\u3002 \u4ed6\u306e\u60a3\u8005\u3067\u306f\u3001\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u3068\u3088\u308a\u4e00\u8cab\u6027\u306e\u3042\u308b\u7279\u7570\u7684\u306a\u8868\u73fe\u578b\u6240\u898b\u3001\u304a\u3088\u3073\u65b0\u898f\u306e\u907a\u4f1d\u3068\u306e\u95a2\u9023\u306b\u3088\u308a\u3001\u81e8\u5e8a\u7684\u610f\u7fa9\u306e\u5b9f\u8a3c\u304c\u4fc3\u9032\u3055\u308c\u3066\u3044\u308b\u3002 \u3053\u3053\u3067\u306f\u3001\u5f8c\u8005\u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u67d3\u8272\u4f5319p13.13\u306e\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u306b\u3064\u3044\u3066\u8ff0\u3079\u308b\u3002 19\u756a\u67d3\u8272\u4f53\u304c\u6700\u3082\u907a\u4f1d\u5b50\u306b\u5bcc\u3080\u67d3\u8272\u4f53\u306e1\u3064(\uff5e2000\u907a\u4f1d\u5b50\u300159 Mb)\u3067\u3042\u308b\u3068\u3044\u3046\u4e8b\u5b9f\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u300119p.<sup>5-10<\/sup>\u3092\u542b\u3080<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u500b\u4eba\u306b\u3064\u3044\u3066\u306f\u3001\u73fe\u5728\u307e\u3067\u306e\u3068\u3053\u308d\u3001\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4<\/a>\u3092\u540c\u5b9a\u3067\u304d\u305f\u306e\u306f\u30014\u540d\u306e\u81e8\u5e8a\u907a\u4f1d\u5b66\u8005\u306b\u3088\u308b\u91cd\u8981\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u500b\u4eba\u306e\u5831\u544a\u306e\u81e8\u5e8a\u6240\u898b\u3068\u7279\u5fb4\u304c\u307b\u307c\u4e00\u81f4\u3057\u305f\u3053\u3068\u3068\u3001\u305d\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u30c7\u30fc\u30bf\u304c\u76f8\u95a2\u3057\u3066\u3044\u305f\u3053\u3068\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/1q21-1-microduplications\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">1q21.1 \u90e8\u5206\u91cd\u8907 <\/div>\n          <div class=\"blog-card-excerpt\">1q21.1\u90e8\u5206\u91cd\u8907\u306b\u95a2\u3059\u308b\u8a73\u7d30\u306a\u60c5\u5831\u3068\u305d\u306e\u767a\u9054\u969c\u5bb3\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u51fa\u751f\u524d\u8a3a\u65ad\u304c\u5c02\u9580\u7684\u306a\u652f\u63f4\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002\r\n...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><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><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BE%E8%B1%A1\"><\/span>\u5bfe\u8c61<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>5\u4eba\u306e\u60a3\u8005\u304c\u30df\u30cd\u30bd\u30bf\u5927\u5b66\u30a2\u30e0\u30d7\u30e9\u30c3\u30c4\u5c0f\u5150\u75c5\u9662\u304a\u3088\u3073\u30df\u30cd\u30bd\u30bf\u5c0f\u5150\u75c5\u9662\u306e\u907a\u4f1d\u5b66\u30af\u30ea\u30cb\u30c3\u30af\u306b\u8a3a\u65ad\u306e\u305f\u3081\u7d39\u4ecb\u3055\u308c\u305f\u3002 Array-CGH\u306f\u3001\u539f\u56e0\u4e0d\u660e\u306e\u591a\u767a\u6027\u5947\u5f62\u304a\u3088\u3073\/\u307e\u305f\u306f\u767a\u9054\u969c\u5bb3\u3092\u6709\u3059\u308b\u60a3\u8005\u306b\u5bfe\u3059\u308b\u6a19\u6e96\u7684\u7cbe\u5bc6\u691c\u67fb\u306e\u69cb\u6210\u8981\u7d20\u3068\u3057\u3066\u30aa\u30fc\u30c0\u30fc\u3055\u308c\u305f\u3002 \u60a3\u8005\u306e\u5e74\u9f62\u306f\u6700\u521d\u306e\u691c\u67fb\u6642\u306b5\uff5e26\u304b\u6708\u306e\u7bc4\u56f2\u3067\u3042\u308a\u3001\u5404\u30054\u4eba\u306e\u81e8\u5e8a\u907a\u4f1d\u5b66\u8005\u306e1\u4eba\u306b\u3088\u3063\u3066\u8a55\u4fa1\u3055\u308c\u305f\u3002 \u30c7\u30fc\u30bf\u306e\u5171\u6709\u3068\u7d50\u679c\u306e\u516c\u8868\u3092\u53ef\u80fd\u306b\u3059\u308b\u305f\u3081\u306e\u672c\u8a66\u9a13\u3078\u306e\u53c2\u52a0\u306f\u3001\u4e21\u65bd\u8a2d\u306e\u6cbb\u9a13\u5be9\u67fb\u59d4\u54e1\u4f1a\u306b\u3088\u308a\u627f\u8a8d\u3055\u308c\u305f\u3002 \u3053\u308c\u3089\u306e\u60a3\u8005\u306e\u4e21\u89aa\u304b\u3089\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30fb\u30b3\u30f3\u30bb\u30f3\u30c8\u3092\u5f97\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%AC%E3%82%A4%E3%83%99%E3%83%BC%E3%82%B9%E3%81%AE%E6%AF%94%E8%BC%83%E3%82%B2%E3%83%8E%E3%83%A0%E3%83%8F%E3%82%A4%E3%83%96%E3%83%AA%E3%83%80%E3%82%A4%E3%82%BC%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E5%88%86%E6%9E%90\"><\/span>\u30a2\u30ec\u30a4\u30d9\u30fc\u30b9\u306e\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u8005\u306e\u672b\u68a2\u8840\u7531\u6765\u306eDNA\u3092\u5358\u96e2\u3057\u3001\u5236\u9650\u9175\u7d20\u3092\u6d88\u5316\u3057\u3001\u30e9\u30f3\u30c0\u30e0\u30d7\u30e9\u30a4\u30de\u30fc\u304a\u3088\u3073\u30a8\u30ad\u30bd\u30af\u30ec\u30ce\u30a6\u65ad\u7247DNA\u30dd\u30ea\u30e1\u30e9\u30fc\u30bc\u3092\u7528\u3044\u3066\u86cd\u5149\u8272\u7d20\u30b7\u30a2\u30cb\u30f35\u3067\u6a19\u8b58\u3057\u305f\u3002 \u30d7\u30fc\u30eb\u3055\u308c\u305f<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\u304b\u3089\u306eDNA\u3092\u3001\u86cd\u5149\u8272\u7d20\u30b7\u30a2\u30cb\u30f33\u3068\u540c\u6642\u306b\u6a19\u8b58\u3057\u305f\u3002 \u60a3\u8005\u304a\u3088\u3073\u5bfe\u7167\u306eDNA\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u30a2\u30ec\u30a4\u30d9\u30fc\u30b9\u306e\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3(aCGH)\u3092\u300135 Kb\u306e\u5168\u4f53\u306e\u4e2d\u592e\u5024\u30d7\u30ed\u30fc\u30d6\u9593\u9694\u306e\u5e73\u5747\u306e\u30d0\u30c3\u30af\u30dc\u30fc\u30f3\u4e0a\u306e\u6fc3\u7e2e\u3055\u308c\u305f\u30ab\u30d0\u30ec\u30c3\u30b8\u306e\u6a19\u7684\u9818\u57df\u3092\u542b\u3080\u30ab\u30b9\u30bf\u30de\u30a4\u30ba\u3055\u308c\u305f44K\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30a2\u30ec\u30a4\u3092\u7528\u3044\u3066\u5b9f\u65bd\u3057\u305f\u3002 \u6700\u3082\u5c0f\u3055\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u60a3\u8005(\u60a3\u80053)\u306e\u505c\u6b62\u70b9\u304a\u3088\u3073\u958b\u59cb\u70b9\u3092\u3088\u308a\u6b63\u78ba\u306b\u63a8\u5b9a\u3059\u308b\u305f\u3081\u306b\u3001\u5e73\u5747\u30bf\u30a4\u30eb\u9593\u969413 Kb\u306e180K\u30a2\u30ec\u30a4\u3092\u5b9f\u65bd\u3057\u305f(Agilent Technologies, Santa Clara, CA)\u3002 \u5404\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u306e\u5bfe\u7167DNA\u306b\u5bfe\u3059\u308b\u60a3\u8005\u306e\u6bd4\u7387\u306f\u3001\u7279\u5fb4\u91cf\u62bd\u51fa\u30bd\u30d5\u30c8\u30a6\u30a7\u30a29.1\u307e\u305f\u306f10.5(Agilent Technologies)\u3092\u7528\u3044\u3066\u7b97\u51fa\u3057\u3001DNA Analytics 4.0.85(Agilent Technologies)\u3092\u7528\u3044\u3066\u5206\u6790\u3057\u305f\u3002 \u89e3\u6790\u306b\u7528\u3044\u305f\u7d71\u8a08\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u306b\u306f\u3001ADM1\u304a\u3088\u3073ADM2\u304c\u542b\u307e\u308c\u305f<\/p>\n\n\n\n<p>(Agilent Technologies) \u95be\u5024\u3092\u5bfe\u6570\u30b9\u30b1\u30fc\u30eb\u30670.3\u306e\u7d76\u5bfe\u5024\u306b\u8a2d\u5b9a\u3057\u3001\u95be\u5024\u57fa\u6e96\u3092\u6e80\u305f\u30593\u3064\u306e\u9023\u7d9a\u3057\u305f\u30aa\u30ea\u30b4\u306e\u8981\u4ef6\u3092\u5099\u3048\u308b\u3002<\/p>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> 19p13.12-p13.13\u4ee5\u5185\u306b\u55aa\u5931\u307e\u305f\u306f\u7372\u5f97\u3057\u305f\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u7279\u5fb4<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u60a3\u8005<\/th><th>1<\/th><th>2<\/th><th>3<\/th><th>4<\/th><th>5<\/th><th>Lysy\u3089\u306e\u60a3\u8005<sup>8<\/sup><\/th><th>Auvin\u3089\u306e\u60a3\u8005<sup>9<\/sup><\/th><th>Jensen\u3089\u306e\u60a3\u8005<sup>10<\/sup><\/th><th>Engels\u3089\u306e\u60a3\u8005<sup>7<\/sup><\/th><th>Stratton\u3089\u306e\u60a3\u8005<sup>6<\/sup><\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u4e0d\u5747\u8861<\/td><td>\u6b20\u5931 19p13.13-p13.2<\/td><td>\u6b20\u5931 19p13.13-p13.2<\/td><td>\u6b20\u5931 19p13.13<\/td><td>\u6b20\u5931 19p13.13-p13.2<\/td><td>\u91cd\u8907 19p13.12-p13.2<\/td><td>\u6b20\u5931 19p13.13-p13.2<\/td><td>\u6b20\u5931 19p13.13<\/td><td>\u6b20\u5931 19p13.12<\/td><td>\u6b20\u5931 19p13.12<\/td><td>\u91cd\u8907 19p13.13-p13.2<\/td>\n<\/tr>\n<tr>\n<td>\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8(\u6700\u5c0f)<\/td><td>12,498,237\u201313,126,508<\/td><td>12,536,641\u201313,794,080<\/td><td>12,793,474\u201313,104,643<\/td><td>12,411,017\u201313,120,904<\/td><td>12,601,112\u201314,488,238<\/td><td>10,256,871\u201313,188,698<\/td><td>12,615,927\u201313,280,259<\/td><td>13,838,264\u201316,357,778<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a55\u4fa1\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>\u30b5\u30a4\u30ba(min)<\/td><td>0.6 Mb<\/td><td>1.3 Mb<\/td><td>0.3 Mb (311 Kb)<\/td><td>0.7 Mb<\/td><td>1.9 Mb<\/td><td>2.9 Mb<\/td><td>0.6 Mb<\/td><td>2.5 Mb<\/td><td>2.1 Mb<\/td><td>\u8a18\u8f09\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8(\u6700\u5927)<\/td><td>12,476,664\u201313,178,511<\/td><td>12,521,732\u201313,854,243<\/td><td>12,779,366\u201313,120,858<\/td><td>12,335,402\u201313,126,464<\/td><td>12,582,355\u201314,503,887<\/td><td>10,246,651\u201313,280,203<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a55\u4fa1\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>\u30b5\u30a4\u30ba(max)<\/td><td>0.7 Mb<\/td><td>1.3 Mb<\/td><td>0.3 Mb (341 Kb)<\/td><td>0.8 Mb<\/td><td>1.9 Mb<\/td><td>3.0 Mb<\/td><td>0.7 Mb<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a18\u8f09\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td colspan=\"11\">\u4e00\u6b21\u8a66\u9a13<\/td>\n<\/tr>\n<tr>\n<td>\u5e74\u9f62<\/td><td>2\u6b73<\/td><td>2\u6b73<\/td><td>0.75\u6b73<\/td><td>0.5\u6b73<\/td><td>3\u6b73<\/td><td>\u51fa\u751f<\/td><td>\u51fa\u751f\u6642\u306e\u6b63\u5e38\u306a\u6210\u9577\u30d1\u30e9\u30e1\u30fc\u30bf<\/td><td>\u51fa\u751f<\/td><td>\u51fa\u751f<\/td><td>\u51fa\u751f<\/td>\n<\/tr>\n<tr>\n<td>\u9577\u3055(%ile)<\/td><td>50th<\/td><td>>95th<\/td><td>90th<\/td><td>90th<\/td><td><5th<\/td><td><-2<\/td><td>SD<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td><3rd<\/td><td>25\u201350th<\/td>\n<\/tr>\n<tr>\n<td>\u4f53\u91cd(%ile)<\/td><td>75th<\/td><td>>95th<\/td><td>50\u201375th<\/td><td>90th<\/td><td>25th<\/td><td><-2<\/td><td>SD<\/td><td><1st<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>20th<\/td>\n<\/tr>\n<tr>\n<td>\u5f8c\u982d\u524d\u91ce\u306e\u5186\u5468(%ile)<\/td><td>>97th<\/td><td>>95th<\/td><td>>98th<\/td><td>>98th<\/td><td><-2 SD<\/td><td>-2<\/td><td>SD<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td><<3rd<\/td><td>15th<\/td>\n<\/tr>\n<tr>\n<td>\u982d\u84cb\u9854\u9762<\/td><td>\u5927\u982d\u75c7\u3001\u524d\u982d\u9686\u8d77<\/td><td>\u5927\u982d\u75c7\u3001\u524d\u982d\u9686\u8d77\u3001\u4e0b\u304c\u308a\u6c17\u5473\u306e\u53e3\u84cb\u88c2<\/td><td>\u5927\u982d\u75c7\u3001\u524d\u982d\u9686\u8d77\u3001\u4e0b\u304c\u308a\u6c17\u5473\u306e\u53e3\u84cb\u88c2<\/td><td>\u5927\u982d\u75c7\u3001\u524d\u982d\u9686\u8d77<\/td><td>\u5c0f\u982d\u75c7\u3001\u524d\u982d\u9686\u8d77\u3001\u4e0b\u304c\u308a\u6c17\u5473\u306e\u53e3\u84cb\u88c2<\/td><td>\u8907\u96d1\u306a\u982d\u84cb\u9aa8\u7652\u5408\u75c7\u3001\u524d\u982d\u306e\u81a8\u3089\u307f\u3001\u5c0f\u3055\u306a\u9f3b\u3001\u4f4e\u3044\u9f3b\u6881<\/td><td>\u30de\u30af\u30ed\u30bb\u30d5\u3001\u9ad8\u304f\u3001\u5927\u304d\u306a\u984d\u3001\u5e73\u3089\u306a\u4eba\u4e2d\u3001\u5c0f\u3055\u306a\u53e3<\/td><td>\u6241\u5e73\u306a\u5f8c\u982d\u90e8\u3001\u9ad8\u3044\u984d\u3001\u4e0b\u5782\u3057\u305fPF\u3001\u9577\u3044\u820c\u3001\u77ed\u3044\u9f3b<\/td><td>\u30de\u30a4\u30af\u30ed\/\u30d6\u30e9\u30c3\u30ad\u30fc\u3001\u8584\u3044\u4e0a\u5507\u3001\u9577\u3044\u4eba\u4e2d\u3001\u5c0f\u3055\u306a\u53e3<\/td><td>\u30de\u30a4\u30af\u30ed\u30bb\u30d5\u3001\u4e21\u5074\u306e\u9686\u8d77\u3001\u4e0a\u5411\u304d\u306ePF<\/td>\n<\/tr>\n<tr>\n<td>\u773c\u79d1<\/td><td>\u5185\u659c\u8996\u3001\u773c\u632f\u3001\u56fa\u5b9a\u4e0d\u826f<\/td><td>\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3001\u5916\u659c\u8996<\/td><td>\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3001\u5916\u659c\u8996<\/td><td>\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u5916\u659c\u8996<\/td><td>\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3001\u5916\u659c\u8996\u3001\u773c\u632f<\/td><td>\u773c\u7aa9\u5f62\u6210\u4e0d\u5168\u3001\u4e21\u773c\u9694\u96e2\u75c7\u3001\u773c\u7403\u7a81\u51fa\u3001\u659c\u8996<\/td><td>\u30dc\u30bf\u30f3\u306a\u3057<\/td><td>\u659c\u8996\u3001\u8996\u795e\u7d4c\u4e73\u982d\u30ab\u30c3\u30d4\u30f3\u30b0\u3001\u773c\u77bc\u4e0b\u5782\u3001\u5185\u773c\u89d2\u5197\u9577\u76ae<\/td><td>\u5185\u773c\u89d2\u5197\u9577\u76ae<\/td><td>\u65ad\u7d9a\u7684\u306a\u773c\u7403\u7a81\u51fa<\/td>\n<\/tr>\n<tr>\n<td>GI<\/td><td>\u6162\u6027\u4e0b\u75e2<\/td><td>\u8179\u90e8\u306e\u75db\u307f\u3001\u5614\u5410\u3001\u7d66\u990c\u4e0d\u826f<\/td><td>\u306a\u3057<\/td><td>\u8179\u90e8\u306e\u75db\u307f\u3001\u5614\u5410\u3001\u30bb\u30ea\u30a2\u30c3\u30af\u75c5<\/td><td>\u8179\u90e8\u306e\u75db\u307f\u3001\u5614\u5410\u3001FTT\uff08G\u30c1\u30e5\u30fc\u30d6\uff09<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u91cd\u5ea6\u306e\u4fbf\u79d8<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u51fa\u751f\u5f8c\u306e\u759d\u75db<\/td>\n<\/tr>\n<tr>\n<td>\u8133<\/td><td>\u6b63\u5e38<\/td><td>\u8efd\u5ea6\u306e\u840e\u7e2e\u3001\u524d\u982d\u8449<\/td><td>\u543b\u5074\u8133\u6881\u304c\u306a\u3044\u3001\u56a2\u80de\u6027\u75c5\u5909<\/td><td>\u30b7\u30ea\u30f3\u30af\u30b9\u3092\u4f34\u3046\u30ad\u30a2\u30eaI\u5947\u5f62<\/td><td>\u6b63\u5e38\u306a\u78c1\u6c17\u5171\u9cf4\u753b\u50cf<\/td><td>\u4e2d\u7a0b\u5ea6\u306e\u8133\u5ba4\u62e1\u5927<\/td><td>\u901a\u5e38\u306e\u78c1\u6c17\u5171\u9cf4\u753b\u50cf<\/td><td>\u8efd\u5ea6\u306e\u8133\u6881\u304a\u3088\u3073\u5c0f\u8133\u5b9f\u8cea\u306e\u4f4e\u5f62\u6210\u3001\u524d\u671f\u7834\u6c34 \u7b2c4\u901a\u6c17\u53e3<\/td><td>\u901a\u5e38<\/td><td>\u901a\u5e38\u306e\u982d\u90e8CT<\/td>\n<\/tr>\n<tr>\n<td>\u767a\u4f5c<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>+<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>\u8a18\u8f09\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td><ruby><rb>\u659c\u9838<\/rb><rt style=\"font-size:.5rem\">\u3057\u3083\u3051\u3044<\/rt><\/ruby><\/td><td>+<\/td><td>+<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>+<\/td><td>\u8a18\u8f09\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>\u767a\u9054\u9045\u5ef6<\/td><td>\u30d5\u30eb\u30b9\u30b1\u30fc\u30ebIQ49<\/td><td>3\u5e74\u9593\u306718\u304b\u6708\u306e\u30b9\u30ad\u30eb\u3002\u9855\u8457\u306a\u8a00\u8449\u306e\u9045\u308c<\/td><td>\u307b\u3068\u3093\u3069\u975e\u8a00\u8a9e\u7684<\/td><td>\u4e2d\u7a0b\u5ea6\u306e\u8a00\u8449\u306e\u9045\u308c\u3001\u7279\u5225\u306a\u6559\u80b2\u304c\u5fc5\u8981\u3067\u3059\u3002<\/td><td> 4.5\u5e74\u306721\u301c29\u304b\u6708\u306e\u30b9\u30ad\u30eb\u3002\u9855\u8457\u306a\u8a00\u8449\u306e\u9045\u308c<\/td><td>33\u30ab\u6708\u3067\u3057\u305f\u30023.7\u5e74\u3067\u8a00\u8a9e\u306a\u3057<\/td><td>2\u5e74\u3067\u571f\u66dc\u65e5\u300c\u7cbe\u795e\u904b\u52d5\u9045\u5ef6\u300d<\/td><td>\u30d5\u30eb\u30b9\u30b1\u30fc\u30ebIQ63<\/td><td>16\u304b\u6708\u3067\u30af\u30ed\u30fc\u30eb\u3002\u30b9\u30d4\u30fc\u30c1\u306a\u3057<\/td><td>\u30e2\u30fc\u30bf\u30fc\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306b\u5230\u9054\u3057\u306a\u304b\u3063\u305f\u30014\u304b\u6708<\/td>\n<\/tr>\n<tr>\n<td colspan=\"11\">\u6700\u7d42\u8a66\u9a13<\/td>\n<\/tr>\n<tr>\n<td>\u5e74\u9f62<\/td><td>6\u6b73<\/td><td>3\u6b73<\/td><td>14.5\u6b73<\/td><td>9.5\u6b73<\/td><td>7\u6b73<\/td><td>3.7\u6b73<\/td><td>2\u6b73<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td>1.5\u6b73<\/td><td>0.75\u6b73<\/td>\n<\/tr>\n<tr>\n<td>\u4f38\u9577(\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)<\/td><td>86th<\/td><td>>95th<\/td><td>50th<\/td><td>75th<\/td><td><3rd<\/td><td>-3 SD<\/td><td>>+3 SD<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td><3rd<\/td><td>50th<\/td>\n<\/tr>\n<tr>\n<td>\u4f53\u91cd(\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)<\/td><td>55th<\/td><td>>95th<\/td><td>10\u201325th<\/td><td>50\u201375th<\/td><td>50th<\/td><td>-0.9 SD<\/td><td>+2 SD<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td><3rd<\/td><td>5th<\/td>\n<\/tr>\n<tr>\n<td>\u5f8c\u982d\u524d\u91ce\u5468\u9577(\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)<\/td><td>>97th<\/td><td>>95th<\/td><td>>98th<\/td><td>>98th<\/td><td>-2 SD<\/td><td>-0.7 SD<\/td><td>+2.5 SD<\/td><td>\u8a18\u8f09\u306a\u3057<\/td><td><<3rd<\/td><td><5th\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\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\"><span class=\"ez-toc-section\" id=\"%E8%9B%8D%E5%85%89in_situ%E3%83%8F%E3%82%A4%E3%83%96%E3%83%AA%E3%83%80%E3%82%A4%E3%82%BC%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E5%88%86%E6%9E%90\"><\/span>\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3(FISH)\u3092\u5b9f\u65bd\u3057\u3066\u3001\u767a\u7aef\u8005\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304a\u3088\u3073\/\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u5b58\u5728\u3092\u78ba\u8a8d\u3057\u3001\u3082\u3057\u767a\u898b\u3055\u308c\u308c\u3070\u518d\u767a\u30ea\u30b9\u30af\u306b\u6709\u610f\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3067\u3042\u308d\u3046\u4e21\u89aa\u306b\u304a\u3051\u308b\u67d3\u8272\u4f53\u9593\u518d\u914d\u5217\u3092\u9664\u5916\u3057\u305f\u3002 FISH\u30d7\u30ed\u30fc\u30d6\u306e\u305f\u3081\u306b\u9078\u629e\u3055\u308c\u305fBAC\u306f\u3001RP11-654K9(MAST1\u3092\u542b\u3080)\u3001RP11-963I8(NFIX\u3092\u542b\u3080)\u3001RP11-14L14(CACNA1A\u3092\u542b\u3080)\u3001\u304a\u3088\u3073\u60a3\u80055\u306e\u305f\u3081\u306bRP11-56K21(PKN1\u3092\u542b\u3080)\u3067\u3042\u3063\u305f\u3002 RP11-654K9\u3001RP11-14L14\u3001\u304a\u3088\u3073RP11-56K21\u306e\u305f\u3081\u306e\u30b9\u30bf\u30d6\u306f\u3001CHORI BAC\/PAC\u30ea\u30bd\u30fc\u30b9\u304b\u3089\u5165\u624b\u3057\u3001\u30af\u30ed\u30e9\u30e0\u30d5\u30a7\u30cb\u30b3\u30fc\u30eb\u3092\u7528\u3044\u3066Luria\u30d6\u30ed\u30b9\u30d7\u30ec\u30fc\u30c8\u4e0a\u3067\u5897\u6b96\u3055\u305b\u3001\u30cb\u30c3\u30af\u30c8\u30e9\u30f3\u30b9\u30ec\u30fc\u30b7\u30e7\u30f3(Abbott Molecular, Abbott Park, IL)\u306b\u3088\u308a\u6a19\u8b58\u3057\u305f\u3002 Enzo-Green\u3067\u4e88\u3081\u6a19\u8b58\u3055\u308c\u305fRP11-963I8\u306f\u3001Empire Genomics(Empire Genomics, Buffalo, NY)\u304b\u3089\u5165\u624b\u3057\u305f\u3002 19q\u30b5\u30d6\u30c6\u30ed\u30e1\u30a2\u9818\u57df(D19S238E; Abbott Molecular)\u306b\u5bfe\u3059\u308b\u30d7\u30ed\u30fc\u30d6\u3082\u5bfe\u7167\u3068\u3057\u3066\u4f7f\u7528\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\"> \u6b20\u5931<\/a>\u306e\u6709\u7121\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306b\u300110\u500b\u306e\u4e2d\u671f\u7d30\u80de\u3092\u30b9\u30b3\u30a2\u5316\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u6709\u7121\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306b\u300175\uff5e100\u500b\u306e\u9593\u671f\u7d30\u80de\u3092\u30b9\u30b3\u30a2\u5316\u3057\u305f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E6%9E%9C\"><\/span>\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B\"><\/span>\u81e8\u5e8a\u6240\u898b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5404\u60a3\u8005\u306e\u8a73\u7d30\u306a\u75c5\u6b74\u304a\u3088\u3073\u6240\u898b\u3092\u4ee5\u4e0b\u306b\u793a\u3057\u3001\u88681\u306b\u8981\u7d04\u3059\u308b\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%851\"><\/span>\u60a3\u80051<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u3053\u306e\u5973\u5150\u306f\u6b63\u671f\u7523(\u51fa\u751f\u6642\u4f53\u91cd4026\uff47)\u3067\u751f\u307e\u308c\u305f(<strong>\u56f31<\/strong>)\u3002 \u65b0\u751f\u5150\u671f\u306e\u7570\u5e38\u306b\u306f\u9ec4\u75b8\u3068\u820c\u5c0f\u5e2f\u306e\u5207\u65ad\u3092\u8981\u3059\u308b\u6bcd\u4e73\u80b2\u5150\u4e0d\u80fd\u304c\u3042\u3063\u305f\u3002 \u5f7c\u5973\u306e\u4e21\u89aa\u306f\u3001\u751f\u5f8c3\u304b\u6708\u306e\u6642\u70b9\u3067\u306e\u5f7c\u5973\u306e\u767a\u9054\u306b\u61f8\u5ff5\u3092\u6301\u3063\u3066\u3044\u305f\u304c\u3001\u305d\u308c\u306f\u5f7c\u5973\u304c\u5e74\u3092\u3068\u308b\u306b\u3064\u308c\u3066\u660e\u3089\u304b\u306b\u306a\u308a\u3001\u6642\u9593\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u8089\u773c\u7684\u904b\u52d5\u304a\u3088\u3073\u8a00\u8a9e\u306e\u9045\u308c\u3092\u542b\u3093\u3067\u3044\u305f\u3002 \u773c\u79d1\u5b66\u7684\u304a\u3088\u3073\u8996\u899a\u7684\u306a\u554f\u984c\u306b\u306f\u3001\u5185\u659c\u8996\u3001\u3074\u304f\u3074\u304f\u52d5\u304f\u773c\u904b\u52d5\u3001\u672b\u7aef\u6ce8\u8996\u773c\u632f\u3001\u304a\u3088\u3073\u4e0d\u5341\u5206\u306a\u56fa\u5b9a\u304c\u542b\u307e\u308c\u305f\u3002 \u60a3\u8005\u306f\u8996\u529b\u306e\u6210\u719f\u304c\u9045\u308c\u3001\u7d4c\u6642\u7684\u306b\u6539\u5584\u3057\u3001\u659c\u8996\u3092\u77ef\u6b63\u3059\u308b\u305f\u3081\u306b2\u56de\u306e\u624b\u8853\u3092\u53d7\u3051\u305f\u3002 \u75c5\u56e0\u4e0d\u660e\u306e\u6162\u6027\u4e0b\u75e2\u3092\u7279\u5fb4\u3068\u3059\u308b\u6d88\u5316\u7ba1\u969c\u5bb3\u304c\u6700\u521d\u306e4\u5e74\u9593\u5b58\u5728\u3057\u305f\u3002 22\u304b\u6708\u5f8c\u306e\u8eab\u4f53\u8a3a\u5bdf\u3067\u306f\u3001\u5de8\u982d\u75c7(&gt;97\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u300150\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u3067\u306e\u8eab\u9577\u300175\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u3067\u306e\u4f53\u91cd\u304c\u793a\u3055\u308c\u305f\u3002 \u9f3b\u6a4b\u306e\u9665\u6ca1\u3001\u9f3b\u5148\u306e\u4e0a\u5411\u304d\u3001\u53e3\u84cb\u304c\u6bd4\u8f03\u7684\u9ad8\u30a2\u30fc\u30c1\u72b6\u3067\u3042\u308b\u5c0f\u3055\u306a\u53e3\u306b\u52a0\u3048\u3066\u3001\u773c\u7aa9\u4e0a\u9686\u8d77\u304a\u3088\u3073\u6df1\u90e8\u30bb\u30c3\u30c8\u773c\u3092\u4f34\u3046\u9855\u8457\u306a\u524d\u982d\u9686\u8d77\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 \u5f7c\u5973\u306e\u6307\u3068\u8db3\u6307\u306f\u9577\u304f\u3001\u8db3\u306e\u88cf\u306b\u6df1\u3044\u3057\u308f\u304c\u3042\u3063\u305f\u3002 \u60a3\u8005\u306f\u4f4e\u7dca\u5f35\u6027\u3067\u3001\u6df1\u90e8\u8171\u53cd\u5c04\u306f\u826f\u597d\u3067\u3042\u3063\u305f\u3002 30\u304b\u6708\u5f8c\u306e\u691c\u67fb\u3067\u306f\u3001\u8eab\u9577\u3068\u4f53\u91cd\u306f80\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u3092\u8d85\u3048\u3001\u5f8c\u982d\u524d\u982d\u5468\u56f2&gt;97\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u3067\u3042\u3063\u305f\u304c\u300122\u304b\u6708\u5f8c\u306b\u306f\u308f\u305a\u304b0.3cm\u5927\u3067\u3042\u3063\u305f\u3002 6\u6b73\u6642\u306e\u8ffd\u8de1\u8abf\u67fb\u3067\u306f\u300186\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u306e\u8eab\u9577\u300155\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u306e\u4f53\u91cd\u300197\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u3092\u8d85\u3048\u308b\u5f8c\u982d\u524d\u91ce\u306e\u5186\u54681 SD\u304c\u793a\u3055\u308c\u305f\u3002 \u30a6\u30a7\u30af\u30b9\u30e9\u30fc\u306e\u6700\u65b0\u306e\u8a55\u4fa1\u3067\u306f\u3001\u5c31\u5b66\u524d\u306e\u30d0\u30c3\u30c6\u30ea\u30fc\u306e\u8a00\u8a9eIQ\u306f61\u3001\u30d1\u30d5\u30a9\u30fc\u30de\u30f3\u30b9IQ\u306f47\u3001\u30d5\u30eb\u30b9\u30b1\u30fc\u30ebIQ\u306f49\u3067\u3042\u3063\u305f\u3002 \u5f7c\u5973\u306e\u7d30\u304b\u3044\u904b\u52d5\u80fd\u529b\u3068\u8996\u899a\u904b\u52d5\u80fd\u529b\u306f\u7e70\u308a\u8fd4\u3057\u8a55\u4fa1\u3055\u308c\u3001\u6bd4\u8f03\u7684\u9045\u308c\u3066\u3044\u308b\u3002\u982d\u84cb\u3068\u9aa8\u5e74\u9f62\u306e\u653e\u5c04\u7dda\u5b66\u7684\u691c\u67fb\u306f\u3001X\u7dda\u304a\u3088\u3073CT\u3067\u6b63\u5e38\u3060\u3063\u305f\u3002&nbsp; \u8133\u306e\u78c1\u6c17\u5171\u9cf4\u753b\u50cf(MRI)\u306f\u8996\u4ea4\u53c9\u524d\u8996\u795e\u7d4c\u306e\u8efd\u5ea6\u4f4e\u5f62\u6210\u3092\u793a\u3057\u305f\u304c\u3001\u8133\u306f\u69cb\u9020\u7684\u306b\u6b63\u5e38\u3060<\/p>\n\n\n\n<p>\u3063\u305f\u3002 \u5fc3\u30a8\u30b3\u30fc\u304a\u3088\u3073\u814e\u8d85\u97f3\u6ce2\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 \u81e8\u5e8a\u691c\u67fb\u3067\u306f\u3001\u6b63\u5e38\u306a46\u3001XX\u6838\u578b(550\u30d0\u30f3\u30c9\u30ec\u30d9\u30eb\u5206\u89e3\u80fd)\u3001\u6b63\u5e38\u306a\u5c3f\u4ee3\u8b1d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3001\u304a\u3088\u3073\u6b63\u5e38\u306a\u8840\u6e05\u30a2\u30df\u30ce\u9178\u3001\u30a2\u30f3\u30e2\u30cb\u30a2\u3001\u4e73\u9178\u3001\u304a\u3088\u3073\u30d4\u30eb\u30d3\u30f3\u9178\u304c\u793a\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<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%852\"><\/span>\u60a3\u80052<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u3053\u306e\u5973\u5150\u306f\u6b63\u671f\u7523(\u51fa\u751f\u6642\u4f53\u91cd2835\uff47)\u3067\u751f\u307e\u308c\u305f\u3002 6\u304b\u6708\u5f8c\u3001\u8089\u773c\u7684\u304a\u3088\u3073\u5fae\u7d30\u306a\u904b\u52d5\u767a\u9054\u9045\u5ef6\u304c\u8a8d\u3081\u3089\u308c\u3001\u8996\u899a\u7684\u306b\u7126\u70b9\u3092\u5408\u308f\u305b\u3001\u8ffd\u8de1\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u306a\u304b\u3063\u305f\u3002 \u60a3\u8005\u306f46.5cm(&gt;95\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u306e\u5f8c\u982d\u524d\u91ce\u306e\u5186\u5468\u3092\u6709\u3059\u308b\u5de8\u982d\u75c7\u3067\u3042\u308a\u3001\u4e0b\u5411\u304d\u773c\u77bc\u88c2\u3092\u6709\u3057\u3066\u3044\u305f\u3002 \u751f\u5f8c7\u304b\u6708\u306e\u4e73\u5150\u767a\u9054\u306e\u30d9\u30a4\u30ea\u30fc\u4e73\u5e7c\u5150\u767a\u9054\u691c\u67fb\u306f3\u304b\u6708\u3067\u3001\u8089\u773c\u7684\u904b\u52d5\u30ec\u30d9\u30eb\u306f2\uff5e5\u304b\u6708\u3001\u5fae\u7d30\u904b\u52d5\u30ec\u30d9\u30eb\u306f1\u304b\u6708\u3067\u3042\u3063\u305f\u3002 15\u304b\u6708\u5f8c\u306e\u8133\u6ce2\u306f\u6b63\u5e38\u3067\u3001\u8074\u529b\u3082\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 17\u304b\u6708\u3067\u3001\u60a3\u8005\u306f\u5614\u5410\u306b\u95a2\u9023\u3057\u305f\u6162\u6027\u304a\u3088\u3073\u4e00\u904e\u6027\u306e\u8179\u75db\u3092\u5448\u3057\u305f\u3002 \u8133\u306e\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u306f\u8efd\u5ea6\u306e\u840e\u7e2e\u3001\u7279\u306b\u524d\u982d\u8449\u306e\u840e\u7e2e\u3092\u793a\u3057\u305f\u3002 \u5916\u659c\u8996\u304c\u7d9a\u304d\u3001\u773c\u79d1\u691c\u67fb\u3067\u4e21\u5074\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u304c\u793a\u3055\u308c\u305f\u3002 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class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u3053\u306e\u5c11\u5e74\u306f\u51fa\u751f\u6642\u4f53\u91cd3884\uff47\u3067\u51fa\u751f\u3057\u3001\u4e73\u5150\u671f\u306b\u5927\u578b\u306e\u5de8\u982d\u75c7\u3092\u5448\u3057\u3001\u5e83\u3044\u984d\u3001\u524d\u982d\u90e8\u9686\u8d77\u3001\u4e0b\u659c\u3081\u306e\u773c\u77bc\u88c2\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u304a\u3088\u3073\u9855\u8457\u306a\u767a\u9054\u9045\u5ef6\u3092\u5448\u3057\u305f(<strong>\u56f31<\/strong>)\u3002 \u60a3\u8005\u306f4\u6b73\u6642\u306b\u3066\u3093\u304b\u3093\u3092\u767a\u75c7\u3057\u3001\u533b\u5b66\u7684\u306b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3055\u308c\u3066\u3044\u308b\u3002 \u5c0f\u659c\u89d2\u659c\u8996\u3068\u4e0a\u773c\u77bc\u5f8c\u9000(\u304f\u307c\u3093\u3060\u773c\u7aa9\u3068\u77ac\u76ee\u6e1b\u5c11\uff09\u3092\u77ef\u6b63\u3059\u308b\u305f\u3081\u30012\u56de\u624b\u8853\u3092\u53d7\u3051\u305f\u3002 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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=\"913\" height=\"661\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-a.jpg\" alt=\"\" class=\"wp-image-18566\"\/><\/figure>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%854\"><\/span>\u60a3\u80054<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u3053\u306e\u5973\u5150\u306f\u6b63\u671f\u7523(\u51fa\u751f\u6642\u4f53\u91cd4097\uff47)\u3067\u3001\u4e73\u5150\u671f\u306b\u4f4e\u7dca\u5f35\u3001\u5de8\u982d\u75c7\u3001\u5927\u304d\u306a\u9752\u8272\u8679\u5f69\u3092\u4f34\u3046\u76ee\u7acb\u3064\u773c\u7403\u3001\u5916\u659c\u8996\u3092\u5448\u3057\u3001\u8996\u795e\u7d4c\u84bc\u767d\u304c1\u5e74\u4ee5\u5185\u306b\u8a8d\u3081\u3089\u308c\u305f(<strong>\u56f31<\/strong>)\u3002 \u305d\u306e\u4ed6\u306e\u81e8\u5e8a\u7684\u6240\u898b\u3068\u3057\u3066\u306f\u3001\u4e0a\u5411\u304d\u306e\u9f3b\u3001\u4f4e\u3044\u9854\u9762\u30c8\u30fc\u30f3\u30016\u3064\u306e\u4e09\u65e5\u6708\u72b6\u306e\u30ab\u30d5\u30a7\u30fb\u30aa\u30fb\u30ec\uff08cafe-au-lait\uff09\u6591\u3001\u30df\u30aa\u30af\u30ed\u30cb\u30fc\uff08myoclonic jerks\uff09\u306a\u3069\u304c\u3042\u308a\u30019\u6b73\u306e\u6642\u306b1\u56de\u306e\u9077\u5ef6\u6027\u767a\u4f5c\u3092\u8d77\u3053\u3057\u305f\u3002\u8133\u6ce2\u3067\u306f\u3066\u3093\u304b\u3093\u306f\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u3002 2\uff5e3\u5e74\u6642\u306e\u6b69\u884c\u30012\u5e74\u524d\u306e\u8a00\u8449\u306a\u3057\u306e\u69cb\u97f3\u969c\u5bb3\u3092\u542b\u3080\u904b\u52d5\u304a\u3088\u3073\u8a00\u8a9e\u9045\u5ef6\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 4\u5e74\u76ee\u306b\u659c\u8996\u624b\u8853\u3092\u53d7\u3051\u305f\u304c\u3001\u65e9\u671f\u306e\u8996\u899a\u4e0d\u6ce8\u610f\u306f\u7d4c\u6642\u7684\u306b\u6539\u5584\u3057\u305f\u3002 7\uff5e9\u5e74\u306e\u9593\u306b\u30bb\u30ea\u30a2\u30c3\u30af\u75c5\u306e\u5fb4\u5019\u3092\u767a\u75c7\u3057\u3001\u30b0\u30eb\u30c6\u30f3\u3092\u542b\u307e\u306a\u3044\u98df\u4e8b\u3092\u3057\u3066\u3044\u305f\u3002 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\u81e8\u5e8a\u691c\u67fb\u3067\u306f\u3001\u4ee3\u8b1d\u691c\u67fb(\u8840\u6e05\u30a2\u30df\u30ce\u9178\u3001\u8840\u4e2d\u9577\u9396\u8102\u80aa\u9178\u3001\u5c3f\u4e2d\u6709\u6a5f\u9178\u3001\u7b4b\u751f\u691c\u3001\u304a\u3088\u3073\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u691c\u67fb)\u3001\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u691c\u67fb(750\u30d0\u30f3\u30c9\u30ec\u30d9\u30eb\u306e\u89e3\u50cf\u5ea6)\u3001\u304a\u3088\u3073NF1\u7a81\u7136\u5909\u7570\u5206\u6790\u306e\u7d50\u679c\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%855\"><\/span>\u60a3\u80055<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u3053\u306e\u5c11\u5e74\u306f\u5728\u80ce36\u9031(\u51fa\u751f\u6642\u4f53\u91cd2835g)\u3067\u751f\u307e\u308c\u305f\u3002 2\u304b\u6708\u5f8c\u3001\u6442\u98df\u969c\u5bb3\u3001\u4fbf\u79d8\u3001\u983b\u56de\u306e\u5614\u5410\u3001\u8457\u660e\u306a\u6613\u523a\u6fc0\u6027\u3001\u591a\u767a\u6027\u611f\u67d3\u75c7\u3092\u5448\u3057\u3001\u540c\u80de\u3088\u308a\u6de1\u3044\u9854\u8272\u3092\u793a\u3057\u305f\u3002 14\u304b\u6708\u5f8c\u306e\u4f53\u91cd\u3001\u8eab\u9577\u3001\u5f8c\u982d\u524d\u91ce\u306e\u5186\u5468\u306f\u3044\u305a\u308c\u30825\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u672a\u6e80\u3067\u3042\u3063\u305f\u3002 \u305d\u306e\u4ed6\u306e\u81e8\u5e8a\u6240\u898b\u3068\u3057\u3066\u306f\u3001\u984d\u306e\u50be\u304d\u3001\u9f3b\u7ffc\u306e\u72ed\u3055\u3001\u4e73\u982d\u306e\u9006\u8ee2\u3001\u6bbf\u90e8\u306e\u7570\u5e38\u306a\u8102\u80aa\u5206\u5e03\u306a\u3069\u304c\u3042\u3063\u305f\u3002 \u60a3\u8005\u306f\u3066\u3093\u304b\u3093\u3092\u6709\u3057\u3001\u5de6\u524d\u982d\u5074\u982d\u8449\u306e\u7126\u70b9\u304b\u3089\u6bce\u65e5\u7d044\uff5e5\u56de\u306e\u767a\u4f5c\u304c\u8d77\u3053\u3063\u305f\u3002 \u6442\u98df\u56f0\u96e3\u3068\u53e3\u8154\u6442\u53d6\u5acc\u60aa\u304c\u7d9a\u3044\u305f\u305f\u3081\u3001G\u30c1\u30e5\u30fc\u30d6\u7559\u7f6e\u3092\u4f34\u3046Nissen\u5674\u9580\u5f62\u6210\u8853\u3092\u65bd\u884c\u3057\u305f\u3002 \u773c\u79d1\u691c\u67fb\u3067\u6c34\u5e73\u773c\u632f\u3092\u8a8d\u3081\u305f\u3002 3\u5e74\u307e\u3067\u306b\u3001\u5f7c\u306e\u982d\u56f2\u306f5\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u3088\u308a\u6709\u610f\u306b\u4f4e\u304f\u7dad\u6301\u3055\u308c\u3001\u6301\u7d9a\u7684\u306a\u767a\u80b2\u4e0d\u5168\u3068\u767a\u9054\u9045\u5ef6(\u308f\u305a\u304b\u6570\u8a9e\u30012\u6b73\u6642\u306b\u6b69\u884c)\u3092\u4f34\u3063\u305f\u3002 4.5\u6b73\u6642\u306e\u795e\u7d4c\u5fc3\u7406\u5b66\u7684\u691c\u67fb\u3067\u306f\u300121~29\u304b\u6708\u9f62\u306e\u540c\u7b49\u306e\u767a\u9054\u304c\u307f\u3089\u308c\u3001\u6d3b\u52d5\u4ea2\u9032\u3001\u7761\u7720\u969c\u5bb3(1\u6669\u306b\u7d043\u6642\u9593\u306e\u7761\u7720\u3092\u4f34\u3046\u9045\u5ef6\u7761\u7720\u958b\u59cb)\u3001\u304b\u3093\u3057\u3083\u304f\u3001\u5f37\u8feb\u884c\u52d5\u304a\u3088\u3073\u81ea\u50b7\u884c\u52d5\u304c\u307f\u3089\u308c\u305f\u3002 \u5f7c\u306e\u53d7\u5bb9\u7684\u8a00\u8a9e\u306f\u8efd\u5ea6\u306b\u969c\u5bb3\u3055\u308c\u3001\u8868\u73fe\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u6709\u610f\u306b\u969c\u5bb3\u3055\u308c\u3001\u6700\u521d\u306f6\u6b73\u6642\u306b\u6587\u7ae0\u3067\u8a71\u3057\u305f\u3002 \u904e\u53bb2~3\u5e74\u3067\u82e5\u5e72\u306e\u6539\u5584\u304c\u898b\u3089\u308c\u308b\u3002 \u60a3\u8005\u306e\u6210\u9577\u901f\u5ea6\u306f\u9045\u304f(3.2cm\/\u5e74\u3001&lt;1\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb)\u3001\u73fe\u5728\u30017\u6b73\u6642\u306e\u8eab\u9577\u306f3\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u672a\u6e80\u3067\u3042\u308b\u304c\u3001\u5f7c\u306e\u53e3\u8154\u6442\u53d6\u5acc\u60aa\u304c\u6539\u5584\u3059\u308b\u306b\u3064\u308c\u3066\u4f53\u91cd\u306f50\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u307e\u3067\u5897\u52a0\u3057\u305f\u3002 \u5bb6\u65cf\u6b74\u306f\u3001\u60a3\u8005\u306e\u7236\u89aa\u304c\u773c\u632f\u3092\u6709\u3057\u3001\u5b66\u7fd2\u56f0\u96e3\u3092\u5831\u544a\u3059\u308b\u70b9\u3067\u6709\u610f\u3067\u3042\u3063\u305f\u3002 \u653e\u5c04\u7dda\u5b66\u7684\u691c\u67fb\u306b\u306f\u3001\u80f8\u90e8X\u7dda\u3001\u8179\u90e8\u8d85\u97f3\u6ce2\u3001\u4e0a\u90e8\u6d88\u5316\u7ba1\u3001\u8edf\u6027S\u72b6\u7d50\u8178\u93e1\u691c\u67fb\u3001\u8133\u306e\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u304c\u3042\u308a\u3001\u3044\u305a\u308c\u3082\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 \u96fb\u89e3\u8cea\u3001\u5206\u753b\u3092\u4f34\u3046\u5168\u8840\u7403\u7b97\u5b9a\u3001\u809d\u81d3\u304a\u3088\u3073\u7532\u72b6\u817a\u6a5f\u80fd\u691c\u67fb\u3001\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u3001\u767a\u6c57\u5869\u5316\u7269\u3001\u8840\u6e05\u30a2\u30df\u30ce\u9178\u3001\u304a\u3088\u3073\u5c3f\u4e2d\u6709\u6a5f\u9178\u306a\u3069\u306e\u81e8\u5e8a\u691c\u67fb\u306f\u3059\u3079\u3066\u6b63\u5e38\u3068\u5831\u544a\u3055\u308c\u305f\u3002 \u7d30\u80de\u907a\u4f1d\u5b66\u7684\u5206\u6790\u306f\u3001850\u30d0\u30f3\u30c9\u30ec\u30d9\u30eb\u306e\u5206\u89e3\u80fd\u3067\u6b63\u5e38\u306a46,XY\u6838\u578b\u3092\u793a\u3057\u305f\u3002FISH\u691c\u67fb\uff08\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u6cd5 \uff09\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30b9\u75c7\u5019\u7fa4<\/a>\u3001\u30c6\u30ed\u30e1\u30a2FISH\u3001\u304a\u3088\u3073\u5916\u90e8\u306e\u57fa\u6e96\u691c\u67fb\u5ba4\u3067\u5b9f\u65bd\u3055\u308c\u305fBAC aCGH\u306f\u6b63\u5e38\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\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%AC%E3%82%A4-CGH%E5%88%86%E6%9E%90\"><\/span>\u30a2\u30ec\u30a4-CGH\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Array-CGH\u3067\u306f\u3001\u60a3\u80051~4\u306e\u55aa\u5931\u9818\u57df\u3068\u4e00\u81f4\u3059\u308b\u6bd4\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u304c\u793a\u3055\u308c\u3001\u60a3\u80055\u306e\u30b2\u30a4\u30f3\u9818\u57df\u304c\u793a\u3055\u308c\u305f\u3002 <strong>\u56f32<\/strong>\u306b\u793a\u3059\u3088\u3046\u306b\u3001\u55aa\u5931\u9818\u57df\u306f\u7d040.31 Mb(\u60a3\u80053)\u304b\u30891.3 Mb(\u60a3\u80052)\u306e\u7bc4\u56f2\u3067\u3042\u3063\u305f\u3002 \u60a3\u80055\u306e\u30b2\u30a4\u30f3\u9818\u57df\u306f\uff5e1.9 Mb\u3067\u3042\u3063\u305f\u3002 \u60a3\u80053\u306b\u307f\u3089\u308c\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u3088\u3063\u3066\u533a\u5207\u3089\u308c\u305f\u30aa\u30fc\u30d0\u30fc\u30e9\u30c3\u30d7\u306e\u6700\u5c0f\u9818\u57df(SRO)\u306f\uff5e311 Kb\u306b\u53ca\u3073\u3001\u30d0\u30f3\u30c919p13.13\u306b\u5c40\u5728\u3059\u308b\u3002 Human Genome Build 18\u306b\u57fa\u3065\u304f\u3068\u3001\u3053\u306eSRO\u306e\u958b\u59cb\u70b9\u3068\u505c\u6b62\u70b9\u306f\u300112793474\u306813104643(\u6700\u5c0f\u30d6\u30ec\u30fc\u30af\u30dd\u30a4\u30f3\u30c8)\u30011279366\u306813120858(\u6700\u5927\u30d6\u30ec\u30fc\u30af\u30dd\u30a4\u30f3\u30c8)\u3067\u3042\u3063\u305f\u3002 \u5168\u60a3\u8005\u306e\u4e21\u89aa\u306baCGH\u306e\u8ffd\u8de1\u8abf\u67fb\u3092\u884c\u3063\u305f(<strong>\u56f33<\/strong>)\u3002 19p13\u9818\u57df\u306e\u6bd4\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306f\u3001\u89aa\u6a19\u672c\u306e\u5404\u3005\u306b\u3064\u3044\u3066\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u56f32.<\/strong> 4\u4eba\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u60a3\u8005(\u60a3\u80051-4)\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u91cd\u8907<\/a>\u60a3\u8005(\u60a3\u80055)\u306e\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3(aCGH)\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3002\u60a3\u80051-4\u306e\u30a2\u30ec\u30a4\u30d7\u30ed\u30c3\u30c8\u3067\u306f\u3001\u6700\u5c0f0.3Mb(\u60a3\u80053)\u304b\u3089\u6700\u59271.3Mb(\u60a3\u80052)\u307e\u3067\u306e\u7bc4\u56f2\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u793a\u3057\u3066\u3044\u308b\u3002\u60a3\u80055\u306e\u30a2\u30ec\u30a4\u30d7\u30ed\u30c3\u30c8\u306f1.8-1.9Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3092\u793a\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1000\" height=\"562\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-b.png\" alt=\"\" class=\"wp-image-18568\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u56f33.<\/strong> &nbsp;\u5404\u60a3\u8005\u306e\u4e21\u89aa\u304b\u3089\u5f97\u3089\u308c\u305f\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08aCGH\uff09\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\uff08\u4e2d\u592e\u306f\u53c2\u8003\u306e\u305f\u3081\u306e\u60a3\u8005\u30a2\u30ec\u30a4\uff09\u3067\u306f\u3001\u95a2\u5fc3\u9818\u57df\u306b\u4e0d\u5747\u8861\u306f\u898b\u3089\u308c\u306a\u3044\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1000\" height=\"373\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-c.png\" alt=\"\" class=\"wp-image-18570\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E5%88%86%E6%9E%90\"><\/span>FISH\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u80051\uff5e4\u306b\u304a\u3051\u308b\u30b3\u30d4\u30fc\u6570\u306e\u6e1b\u5c11\u306f\u3001\u9593\u8cea\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u8868\u3059\u3082\u306e\u3068\u3057\u3066FISH\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3055\u308c\u305f\u3002 aCGH\u306e\u7d50\u679c\u3068\u4e00\u81f4\u3057\u3066\u3001\u5168\u4f8b\u304cRP11-654K9(<strong>\u56f34A<\/strong>)\u304a\u3088\u3073RP11-963I8\u306e\u4e21\u65b9\u306e\u6b20\u640d\u3092\u793a\u3057\u305f\u304c\u3001\u60a3\u80052\u306e\u307f\u304cRP11-14L14\u306e\u6b20\u640d\u3092\u793a\u3057\u305f\u3002 \u30b3\u30d4\u30fc\u6570\u306e\u5897\u52a0\u3092\u4f34\u3046\u60a3\u80055\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3068\u4e00\u81f4\u3059\u308b\u9593\u671f\u30b7\u30b0\u30ca\u30eb\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3057\u305f\u3002 \u30d7\u30ed\u30fc\u30d6RP11-654K9\u3001RP11-963I8\u3001RP11-14L14\u304a\u3088\u3073RP11-56K21\u306b\u3064\u3044\u3066\u3001\u9593\u671f\u7d30\u80de\u306e\u305d\u308c\u305e\u308c88%\u300178%\u300180%\u304a\u3088\u307365%\u306f\u30013\u3064\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30b7\u30b0\u30ca\u30eb\u3092\u793a\u3057\u305f(<strong>\u56f34B<\/strong>)\u3002 \u4e2d\u671f\u67d3\u8272\u4f53\u4e0a\u306eFISH\u3067\u306f\u8907\u88fd\u306f\u8996\u899a\u5316\u3067\u304d\u306a\u304b\u3063\u305f\u304c\u3001\u30b7\u30b0\u30ca\u30eb\u306f19\u756a\u67d3\u8272\u4f53\u4e0a\u306b\u306e\u307f\u5b58\u5728\u3057\u3001\u4f59\u5206\u306a\u30b7\u30b0\u30ca\u30eb\u304c\u30b2\u30ce\u30e0\u306e\u4ed6\u306e\u5834\u6240\u306b\u633f\u5165\u3055\u308c\u305f\u53ef\u80fd\u6027\u306f\u5426\u5b9a\u3055\u308c\u305f\u3002 \u89aaFISH\u8a66\u9a13\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u8a3c\u62e0\u306f\u793a\u3055\u308c\u305a\u3001\u3059\u3079\u3066\u306eBAC\u30b7\u30b0\u30ca\u30eb\u304c#19\u67d3\u8272\u4f53\u306b\u5c40\u5728\u3059\u308b\u3053\u3068\u304c\u3055\u3089\u306b\u78ba\u8a8d\u3055\u308c\u3001\u67d3\u8272\u4f53\u9593\u633f\u5165\u306e\u53ef\u80fd\u6027\u306f\u9664\u5916\u3055\u308c\u305f(<strong>\u56f34C<\/strong>)\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u767a\u7aef\u8005\u306e\u640d\u5931\u3068\u5229\u76ca\u306f\u3001\u65b0\u305f\u306a\u51fa\u6765\u4e8b\u3092\u8868\u3057\u3066\u3044\u308b\u3002SRO\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\uff1a\u60a3\u80053\u3067\u767a\u898b\u3055\u308c\u305f\u6d88\u5931\u9818\u57df\u3067\u533a\u5207\u3089\u308c\u305fSRO\u306f \u60a3\u80053\u3067\u767a\u898b\u3055\u308c\u305f\u6b20\u640d\u9818\u57df\u3067\u533a\u5207\u3089\u308c\u305fSRO\u306b\u306f RNASEH2A(\u30c6\u30ed\u30e1\u30ea\u30c3\u30af)\u304b\u3089NACC1(\u30bb\u30f3\u30c8\u30ed\u30e1\u30ea\u30c3\u30af)\u307e\u3067\u306e16\u500b\u306e\u907a\u4f1d\u5b50\u306e\u5168\u90e8\u307e\u305f\u306f\u4e00\u90e8\u3092\u542b\u307f\u3001RNASEH2\u306e\u307b\u3068\u3093\u3069 RNASEH2\u306e\u5927\u90e8\u5206\u3001RTBDN\u306e\u5168\u3066\u3001MAST1\u3001DNASE2\u3001KLF1\u3001GCDH, syce2, farsa, calr, rad23a, gadd45gip1, dand5, nfix, LYL1\u3068TRMT1\u3001\u305d\u3057\u3066NACC1\u306e\u5927\u90e8\u5206\u3067\u3042\u308b\uff08<strong>\u56f35<\/strong>\uff09(http:\/\/genome.ucsc.edu; UCSC hg18 Mar 2006)\u3002<sup>11,12<\/sup><\/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<p><strong>\u56f34.<\/strong> &nbsp;A. \u60a3\u80053\u306e\u30e1\u30bf\u30d5\u30a7\u30fc\u30b9\u7d30\u80de\u306bBAC\u30af\u30ed\u30fc\u30f3\uff08RP11-654K9\u3001\u8d64\u3001RP11-14L14\u3001\u7dd1\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3066FISH\u3092\u884c\u3063\u305f\u3002\u6b63\u5e38\u306a19\u756a\u67d3\u8272\u4f53\uff08\u5927\u77e2\u5370\uff09\u306f\u4e21\u65b9\u306e\u30d7\u30ed\u30fc\u30d6\u306b\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30ba\u3057\u3001\u9ec4\u8272\u306e\u878d\u5408\u30b7\u30b0\u30ca\u30eb\u304c\u5f97\u3089\u308c\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3057\u305f19\u756a\u67d3\u8272\u4f53\uff08\u5c0f\u77e2\u5370\uff09\u306f\u3001RP11-14L14\u306e\u307f\u306b\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30ba\u3057\u3001\u8d64\u8272\u306e\u30b7\u30b0\u30ca\u30eb\u304c\u51fa\u306a\u304b\u3063\u305f\u3002B. \u60a3\u80055\u306e\u9593\u671f\u7d30\u80de\u3067\u306f\u3001RP11-56K21\u306e\u30d7\u30ed\u30fc\u30d6\u306b3\u3064\u306e\u30b7\u30b0\u30ca\u30eb\u304c\u898b\u3089\u308c\u308b\u3002C. RP11-963I8(\u7dd1)\u3068D19S238E(\u8d64)\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u6b63\u5e38\u306a\u30b7\u30b0\u30ca\u30eb\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3059\u89aa\u691c\u4f53\u306e\u30e1\u30bf\u30d5\u30a7\u30fc\u30b9\u7d30\u80de\u3002\u67d3\u8272\u4f53\u9593\u306e\u518d\u914d\u5217\u306f\u898b\u3089\u308c\u306a\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"301\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-d-1024x301.jpg\" alt=\"\" class=\"wp-image-18572\"\/><\/figure>\n<\/div><\/div>\n\n\n\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>aCGH\u306b\u3088\u308a\u300119p13.12\uff5e19p13.2\u3092\u542b\u3080<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b4\u540d\u306e\u60a3\u8005\u304c\u540c\u5b9a\u3055\u308c\u305f\u3002 SRO\u306f\u300119p13.13\u5185\u306b\u7d04311 Kb(\u6700\u5927340 Kb)\u306e\u6700\u5c0f\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u4f34\u3046\u60a3\u80053\u306b\u3088\u3063\u3066\u533a\u5207\u3089\u308c\u305f\u3002 \u6700\u5c0f\u306eSRO\u306f\u3001\u7d0412793474bp\u304b\u308913104643bp(Build 18)\u306b\u53ca\u3076\u3002\u73fe\u5728\u307e\u3067\u306e\u3068\u3053\u308d\u3001\u3053\u306eSRO\u3092\u5305\u542b\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u60a3\u8005(Auvin\u3089<sup>9<\/sup>\u306b\u3088\u308a\u5831\u544a\u3055\u308c\u305f\u60a3\u8005)\u306b\u95a2\u3059\u308b\u767a\u8868\u3055\u308c\u305f\u75c7\u4f8b\u5831\u544a\u306f2\u4ef6\u306e\u307f\u3067\u3042\u308b\u3002 \u7d04740 Kb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u4f34\u3044\u30011\u4ef6\u306fLysy\u3089<sup>8<\/sup>\u306b\u3088\u308a\u5831\u544a\u3055\u308c\u305f\u3002 \u3088\u308a\u5927\u304d\u306a3 Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u4f34\u3046\u3002 \u672c\u8a66\u9a13\u304a\u3088\u3073Auvin\u3089\u306e\u8a66\u9a13\u306e\u60a3\u8005 \u3053\u306e19p13.13\u306e\u81e8\u5e8a\u7684-\u7d30\u80de\u30b2\u30ce\u30e0\u5b9f\u4f53\u3092\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4<\/a>\u3068\u3057\u3066\u6307\u5b9a\u3059\u308b\u3053\u3068\u3092\u652f\u6301\u3059\u308b\u4e00\u8cab\u3057\u305f\u8868\u73fe\u578b\u76f8\u95a2\u3092\u793a\u3059\u3002 Lysy\u3089\u306e\u60a3\u8005<sup>8<\/sup> \u3057\u304b\u3057\u3001\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f\u672c\u5831\u544a\u306e\u30c6\u30ed\u30e1\u30a2\u306b\u307b\u307c3 Mb\u306e\u30c6\u30ed\u30e1\u30a2\u3092\u53ca\u307c\u3057\u3001\u6700\u5927<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306e\u307b\u307c3\u500d\u3001\u81e8\u754c\u9818\u57df\u306e\u307b\u307c10\u500d\u306e\u5927\u304d\u3055\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3001\u8868\u73fe\u578b\u306f\u6709\u610f\u306b\u7570\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong>\u56f35.<\/strong> \u60a3\u80051-5\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u9818\u57df\uff08\u8d64\uff09\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u9818\u57df\uff08\u7dd1\uff09\u306e\u4f4d\u7f6e\u3092\u793a\u3059\u56f3\u3002\u5b9f\u7dda\u3068\u7834\u7dda\u306f\u3001\u305d\u308c\u305e\u308cSRO\u306e\u6700\u5c0f\u3068\u6700\u5927\u306e\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u3092\u793a\u3059\u3002\u307e\u305f\u3001\u4e0d\u5747\u8861\u9818\u57df\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3057\u305fBAC\u30d7\u30ed\u30fc\u30d6(*1<em>\u2013<\/em>*4)\u3001\u305d\u308c\u3089\u304c\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3001\u304a\u3088\u3073SRO\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u793a\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"667\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-e-1024x667.png\" alt=\"\" class=\"wp-image-18574\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<p>19p13.13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u60a3\u8005\u306b\u304a\u3051\u308b\u81e8\u5e8a\u6240\u898b\u306f\u30013\u3064\u306e\u53cd\u5fa9\u6027\u7570\u5e38\u306e\u4e00\u7fa4\u3067\u6ce8\u76ee\u306b\u5024\u3059\u308b\u3002 \u7b2c\u4e00\u306b\u3001\u904e\u6210\u9577\u3067\u3042\u308b\u3002 \u60a3\u80051~4\u304a\u3088\u3073Auvin\u3089\u306e\u60a3\u8005<sup>9<\/sup> \u3053\u308c\u3089\u306e\u60a3\u8005\u306f\u3044\u305a\u308c\u3082\u5e74\u9f62\u306b\u5fdc\u3058\u3066\u5927\u982d\u75c7\u3067\u3042\u308a\u3001\u8eab\u9577\u304a\u3088\u3073\u4f53\u91cd\u306f\u982d\u84cb\u9854\u9762\u306e\u5927\u304d\u3055\u3068\u4e00\u81f4\u3057\u3066\u3044\u305f\u3002 \u60a3\u80052\u304a\u3088\u30733\u3001\u306a\u3089\u3073\u306bAuvin\u3089\u306e\u60a3\u8005<sup>9<\/sup>\u306b\u3068\u3063\u3066\u3001\u7279\u306b\u8208\u5473\u6df1\u3044\u3053\u3068\u3067\u3042\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Sotos\u75c7\u5019\u7fa4<\/a>\u3092\u9664\u5916\u3059\u308b\u305f\u3081\u3001NSD1\u691c\u67fb\u3092\u5b9f\u65bd\u3057\u305f\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u3053\u306e19p13.13\u306e\u9818\u57df\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Sotos\u75c7\u5019\u7fa4<\/a>\u304c\u9451\u5225\u8a3a\u65ad\u3092\u53d7\u3051\u3066\u3044\u308b\u304cNSD1\u691c\u67fb\u306e\u7d50\u679c\u304c\u9670\u6027\u3067\u3042\u308b\u4ed6\u306e\u60a3\u8005\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 2\u756a\u76ee\u306b\u3088\u304f\u307f\u3089\u308c\u308b\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u773c\u79d1\u7684\u7570\u5e38(\u7279\u306b\u659c\u8996)\u304a\u3088\u3073\u8996\u795e\u7d4c\u840e\u7e2e\u307e\u305f\u306f\u4f4e\u5f62\u6210\u3067\u3042\u308a\u3001\u5f8c\u8005\u306f\u6b63\u5f0f\u306a\u773c\u79d1\u691c\u67fb\u304a\u3088\u3073\/\u307e\u305f\u306f\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u306b\u3088\u3063\u3066\u691c\u51fa\u3055\u308c\u305f\u3002 3\u3064\u76ee\u306e\u6240\u898b\u306f\u3001\u80c3\u8178\u75c7\u72b6\u3001\u7279\u306b\u8179\u75db\u304a\u3088\u3073\u5614\u5410\u3067\u3042\u308b\u3002 \u3053\u306e\u4e09\u5fb4\u306b\u307f\u3089\u308c\u308b\u552f\u4e00\u306e\u6240\u898b\u306f19p13.13\u306e\u7570\u5e38\u306b\u7279\u7570\u7684\u306a\u3082\u306e\u3067\u306f\u306a\u3044\u304c\u3001\u3053\u306e\u4e00\u9023\u306e\u6240\u898b\u306f\u3001\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907<\/a>\u306b\u95a2\u3059\u308b\u73fe\u5728\u6570\u591a\u304f\u306e\u5831\u544a\u306e\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u3053\u308c\u3089\u306e19p13.13\u60a3\u8005\u306f\u3044\u304f\u3064\u304b\u306e\u975e\u7279\u7570\u7684\u6240\u898b\u3082\u793a\u3057\u305f\u3002\u795e\u7d4c\u5b66\u7684\u7570\u5e38(\u4f8b\u3001\u75d9\u6523\u3001\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u6027\u75d9\u6523\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b)\u306f\u3044\u304f\u3064\u304b\u306b\u898b\u3089\u308c\u3001\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\/\u307e\u305f\u306f\u7cbe\u795e\u9045\u6ede\u304c\u5168\u54e1\u306b\u5b58\u5728\u3057\u305f\u3002 \u6bd4\u8f03\u306e\u305f\u3081\u306b\u300119p13.12-19p13.2\u5185\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u4ed6\u306e\u6570\u5c11\u306a\u3044\u767a\u8868\u6e08\u307f\u60a3\u8005\u3092<strong>\u88681<\/strong>\u306b\u542b\u3081\u308b(\u53c2\u8003\u6587\u732e\u3082\u53c2\u7167\u306e\u3053\u3068)\u3002 6\u30017\u300110\u3002 \u3053\u308c\u3089\u306f\u3044\u305a\u308c\u3082\u60a3\u80053\u306b\u3088\u3063\u3066\u533a\u5207\u3089\u308c\u305f\u81e8\u754c\u9818\u57df\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u305b\u305a\u3001\u305d\u308c\u3089\u306e\u8868\u73fe\u578b\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u9855\u8457\u306a\u9055\u3044\u304c\u3042\u308b\u3002 \u6211\u3005\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u60a3\u8005\u304a\u3088\u3073Auvin\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u60a3\u8005<sup>9<\/sup>\u3068\u306f\u5bfe\u7167\u7684\u306b \u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3057\u306a\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u60a3\u8005<sup>7, 10<\/sup>\u306f\u5e74\u9f62\u306b\u5fdc\u3058\u3066\u5c0f\u3055\u304f\u3001\u6211\u3005\u304c\u5b9a\u7fa9\u3057\u305f310 Kb\u306eSRO\u5185\u306e\u907a\u4f1d\u5b50\u304c\u5927\u304d\u306a\u4f53\u306e\u5927\u304d\u3055\u306e\u539f\u56e0\u3067\u3042\u308b\u3068\u3044\u3046\u7d50\u8ad6\u3092\u652f\u6301\u3057\u3066\u3044\u308b\u3002 \u6211\u3005\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u60a3\u8005\u3067\u306f\u96e3\u8074\u306f\u306a\u3044\u304c\u3001\u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3057\u306a\u304419p<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u3064\u3044\u3066\u306f\u91cd\u5927\u306a\u96e3\u8074\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306e\u8fd1\u4f4d\u304a\u3088\u3073\u9060\u4f4d\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u304c\u305d\u308c\u3089\u306e\u8868\u73fe\u578b\u306e\u3053\u306e\u5074\u9762\u3092\u8aac\u660e\u3059\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u3044\u304f\u3064\u304b\u306e\u985e\u4f3c\u70b9\u304c\u5b58\u5728\u3059\u308b(\u4f8b\u3048\u3070\u3001\u659c\u8996<sup>6, 10<\/sup>\u304a\u3088\u3073\u8996\u795e\u7d4c\u4e73\u982d\u30ab\u30c3\u30d4\u30f3\u30b0<sup>10<\/sup>)\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\/\">\u91cd\u8907<\/a>\u304c\u8a8d\u3081\u3089\u308c\u305f\u306e\u306f1\u4f8b\u306e\u307f\u3067\u3042\u308a\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u4e00\u822c\u5316\u306b\u306f\u614e\u91cd\u3067\u3042\u308b\u3002 17p11.2\u304a\u3088\u307322q11.2\u3092\u542b\u3080\u3001\u73fe\u5728\u3088\u304f\u78ba\u7acb\u3055\u308c\u3066\u3044\u308b\u76f8\u4e92\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4<\/a>\u3067\u306f\u3001\u5404<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u95a2\u9023\u3059\u308b\u4e00\u9023\u306e\u8868\u73fe\u578b\u6240\u898b\u304c\u3001\u5bfe\u5fdc\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306b\u95a2\u9023\u3059\u308b\u3082\u306e\u3068\u306f\u5341\u5206\u306b\u7570\u306a\u3063\u3066\u304a\u308a\u3001\u305d\u308c\u305e\u308c\u5225\u500b\u306e\u75c7\u5019\u7fa4(\u4f8b\u3048\u3070\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">17p11.2\u306e\u6b20\u5931<\/a>\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Smith-Magenis\u75c7\u5019\u7fa4<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">17p11.2\u306e\u91cd\u8907<\/a>\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Potocki-Lupski\u75c7\u5019\u7fa4<\/a>)\u3068\u3057\u3066\u306e\u6307\u5b9a\u3092\u6b63\u5f53\u5316\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001Wiliams-Beuren\u907a\u4f1d\u5b50\u5ea7\u304c\u95a2\u4e0e\u3059\u308b\u4e0d\u5747\u8861\u3067\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u3088\u3046\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u3042\u308b\u60a3\u8005\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306e\u3042\u308b\u60a3\u8005\u306b\u307f\u3089\u308c\u308b\u6240\u898b\u3068\u306f\u9006\u306e\u6240\u898b\u3092\u6709\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<sup>13, 14<\/sup> \u3053\u306e\u30b7\u30ea\u30fc\u30ba\u3067\u306f\u3001\u5927\u982d\u75c7\u306e19p13.13\u6b20\u5931\u60a3\u8005\u3068\u5c0f\u982d\u75c7\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u60a3\u8005\u3068\u306e\u982d\u56f2\u306e\u8457\u3057\u3044\u9055\u3044\u306b\u3088\u3063\u3066\u3001\u3053\u306e\u3053\u3068\u304c\u540c\u69d8\u306b\u793a\u3055\u308c\u3066\u3044\u308b\u3002 \u3053\u308c\u306f\u3001Stratton\u3089<sup>6<\/sup>\u304c\u5831\u544a\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u60a3\u8005\u306b\u3082\u5f53\u3066\u306f\u307e\u3063\u305f\u3002 \u3057\u304b\u3057\u3001\u540c\u3058\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3082\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">22q11.2\u306e\u6b20\u5931<\/a>\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u4e21\u65b9\u306b\u304a\u3051\u308b\u53e3\u84cb\u54bd\u982d\u6a5f\u80fd\u4e0d\u5168\u306e\u6240\u898b\u306b\u3088\u3063\u3066\u793a\u3055\u308c\u308b\u3088\u3046\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u306e\u7279\u5fb4\u3092\u5171\u6709\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u540c\u69d8\u306b\u300119p\u306e\u75c7\u4f8b\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u6709\u7121\u306b\u304b\u304b\u308f\u3089\u305a\u3001\u3044\u304f\u3064\u304b\u306e\u81e8\u5e8a\u6240\u898b(\u773c\u6240\u898b\u3001\u6d88\u5316\u7ba1\u75c7\u72b6\u3001\u3051\u3044\u308c\u3093\u306a\u3069)\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002<sup>15-17<\/sup><\/p>\n\n\n\n<p>SRO\u306b\u30de\u30c3\u30d7\u3055\u308c\u305f16\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8ee2\u5199\u3001DNA\u4fee\u5fa9\u3001\u9020\u8840\u306a\u3069\u306e\u591a\u69d8\u306a\u904e\u7a0b\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3002 DNASE2<sup>18<\/sup>\u3068KLF1<sup>19, 20<\/sup>\u306f\u80ce\u5150\u306e\u9020\u8840\u306b\u95a2\u4e0e\u3059\u308b\u3002 1\u3064\u306e\u6a5f\u80fd\u7684KLF1\u5bfe\u7acb\u907a\u4f1d\u5b50\u306e\u5b58\u5728\u306f\u30d2\u30c8\u306e\u8d64\u8840\u7403\u751f\u6210\u306b\u5341\u5206\u3067\u3042\u308b\u305f\u3081\u3001\u3053\u308c\u30895\u4eba\u306e\u60a3\u8005\u306b\u9855\u6027\u306e\u8840\u6db2\u5b66\u7684\u7570\u5e38\u304c\u306a\u3044\u3053\u3068\u306f\u4e88\u60f3\u5916\u3067\u306f\u306a\u3044\u3002 \u3053\u306e\u9818\u57df\u5185\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75be\u60a3<\/a>\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b: GCDH\u304a\u3088\u3073\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7\/\u9178\u5c3f\u75c7(GA\u20101)<sup>21-24<\/sup> \u304a\u3088\u3073RNASEH2A\u304a\u3088\u3073Aicardi\u2010Goutieres\u75c7\u5019\u7fa4\u3002 \u975e\u6b20\u5931\u30db\u30e2\u30ed\u30b0\u306e\u7a81\u7136\u5909\u7570\u3092\u4f34\u308f\u306a\u3044\u9650\u308a\u3001\u3053\u308c\u3089\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u306e\u6b20\u5931<\/a>\u306f\u81e8\u5e8a\u75c7\u72b6\u3068\u95a2\u9023\u3057\u306a\u3044\u3068\u4e88\u60f3\u3055\u308c\u308b\u3002 SRO\u306e\u907a\u4f1d\u5b50\u306e\u3044\u304f\u3064\u304b\u306f\u8133\u304a\u3088\u3073\u795e\u7d4c\u7d44\u7e54\u3067\u767a\u73fe\u3057\u3001\u81e8\u5e8a\u75c7\u72b6\u767a\u73fe\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002 \u5fae\u5c0f\u7ba1\u7d50\u5408\u30bb\u30ea\u30f3\/\u30c8\u30ec\u30aa\u30cb\u30f3\u30ad\u30ca\u30fc\u30bc1\u3067\u3042\u308bMAST1\u306f\u305d\u306e\u3088\u3046\u306a\u5019\u88dc\u3067\u3042\u308b\u3002 \u305d\u308c\u306f\u3001\u8133\u3067\u9ad8\u5ea6\u306b\u767a\u73fe\u3055\u308c\u308b\u5fae\u5c0f\u7ba1\u95a2\u9023\u30bb\u30ea\u30f3\/\u30c8\u30ec\u30aa\u30cb\u30f3\u30ad\u30ca\u30fc\u30bc\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u30e1\u30f3\u30d0\u30fc\u3067\u3042\u308b\u3002 \u7279\u306b\u8208\u5473\u6df1\u3044\u306e\u306f\u3001MAST1\u304cPTEN\u3068\u76f8\u4e92\u4f5c\u7528\u3057\u3001PTEN\u306e\u5b89\u5b9a\u5316\u3092\u52a9\u3051\u308b\u3068\u3044\u3046\u4e8b\u5b9f\u3067\u3042\u308b\u3002PTEN\u306e\u5909\u7570\u306f\u5927\u982d\u75c7\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306e\u4e21\u65b9\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3002 NF1\u8ee2\u5199\u56e0\u5b50\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u30e1\u30f3\u30d0\u30fc\u3067\u3042\u308bNFIX\u306f\u3001\u5225\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002<sup>26-28<\/sup> \u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u306f\u3001Nfix\u304c\u6b63\u5e38\u306a\u8133\u306e\u767a\u9054\u306b\u5fc5\u9808\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u304a\u308a\u30011\u4ef6\u306e\u5b9f\u9a13\u3067\u306f\u7247\u5074\u63a5\u5408\u6027\u304c\u8133\u6881\u306e\u7121\u5f62\u6210\u3092\u3082\u305f\u3089\u3059\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001<sup>30<\/sup> \u3053\u306e\u6240\u898b\u306f\u60a3\u80053\u306b\u307f\u3089\u308c\u308b\u6240\u898b\u3068\u985e\u4f3c\u3057\u3066\u3044\u308b\u3002 \u4e0a\u8ff0\u306e\u3088\u3046\u306b\u3001\u6d88\u5316\u7ba1\u306e\u554f\u984c\u306f\u6211\u3005\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u9855\u8457\u3067\u3042\u3063\u305f\u3002 \u3053\u308c\u3089\u306e\u77e5\u898b\u306b\u8208\u5473\u6df1\u3044\u907a\u4f1d\u5b50\u306fCALR\u3067\u3042\u308b\u3002CALR\u306f\u3001\u5c0f\u80de\u4f53\u5185\u3067\u30ab\u30eb\u30b7\u30a6\u30e0\u3068\u7d50\u5408\u30fb\u8caf\u8535\u3057\u3001\u6838\u5185\u3067\u50cd\u304d\u3001\u6838\u30db\u30eb\u30e2\u30f3\u53d7\u5bb9\u4f53\u306b\u3088\u308b\u907a\u4f1d\u5b50\u8ee2\u5199\u306e\u8abf\u7bc0\u306b\u4f5c\u7528\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b\u30ab\u30eb\u30ec\u30c1\u30af\u30ea\u30f3\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002 \u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u305d\u308c\u306f\u30d2\u30c8\u5c0f\u8178\u306e\u30cb\u30e5\u30fc\u30ed\u30f3\u306b\u3082\u5c40\u5728\u3057\u3066\u304a\u308a\u3001\u5f93\u3063\u3066\u3001\u6211\u3005\u306e5\u4eba\u306e\u60a3\u8005\u306e\u3046\u30614\u4eba\u306b\u898b\u3089\u308c\u308b\u6d88\u5316\u5668\u75c7\u72b6\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 Auvin\u3089<sup>9<\/sup>\u3092\u542b\u308019p13\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u95a2\u3059\u308b\u4ee5\u524d\u306b\u767a\u8868\u3055\u308c\u305f\u5831\u544a\u306b\u304a\u3044\u3066\u3001CACNA1A\u304a\u3088\u3073CC2D1A\u306f\u3001\u7d50\u679c\u3068\u3057\u3066\u751f\u3058\u308b\u8868\u73fe\u578b\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3068\u4eee\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<sup>9, 31<\/sup> CACNA1A\u3082CC2D1A\u3082\u6211\u3005\u306e\u91cd\u8981\u306a310\uff5e340 Kb\u9818\u57df\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u3053\u308c\u3089\u306f\u6211\u3005\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u3053\u306e19p13.13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\/\u91cd\u8907<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u7570\u7684\u306a\u8868\u73fe\u578b\u30b3\u30f3\u30b9\u30c6\u30ec\u30fc\u30b7\u30e7\u30f3\u306e\u5019\u88dc\u3068\u306f\u8003\u3048\u3089\u308c\u306a\u3044\u3002<\/p>\n\n\n\n<p>\u6f5c\u5728\u7684\u5019\u88dc\u907a\u4f1d\u5b50MAST1\u304a\u3088\u3073CALR\u3092\u3055\u3089\u306b\u8abf\u67fb\u3059\u308b\u305f\u3081\u306b\u3001\u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u304a\u3088\u3073\u7a81\u7136\u5909\u7570\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u63d0\u6848\u3055\u308c\u3066\u3044\u308b\u3002 \u524d\u8ff0\u306e\u3088\u3046\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304a\u3088\u3073\u91cd\u8907\u306b\u95a2\u4e0e\u3059\u308b\u958b\u59cb\u70b9\u304a\u3088\u3073\u505c\u6b62\u70b9\u306f\u3001\u5404\u60a3\u8005\u306b\u56fa\u6709\u3067\u3042\u3063\u305f\u3002 \u3053\u306e\u4e8b\u5b9f\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\/\u91cd\u8907<\/a>\u9818\u57df\u5185\u306b\u4f4e\u30b3\u30d4\u30fc\u30ea\u30d4\u30fc\u30c8\u307e\u305f\u306f\u5206\u7bc0\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u304c\u5b58\u5728\u3057\u306a\u3044\u3053\u3068\u3001\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\/\u91cd\u8907<\/a>\u9818\u57df\u306b\u96a3\u63a5\u3057\u3066\u3044\u308b\u3053\u3068\u3068\u3042\u3044\u307e\u3063\u3066\u300119p13 \u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u3092\u751f\u3058\u3055\u305b\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u3057\u3066\u975e\u5bfe\u7acb\u907a\u4f1d\u5b50\u76f8\u540c\u7d44\u63db\u3048\u306b\u53cd\u5bfe\u3059\u308b\u3002 \u6700\u8fd1\u3067\u306f\u3001\u9396\u5207\u65ad\u306e\u4fee\u5fa9\u306b\u95a2\u4e0e\u3059\u308b\u5207\u65ad\u70b9\u63a5\u5408\u90e8\u306e\u5fae\u5c0f\u76f8\u540c\u6027\u304c\u3001\u975e\u53cd\u5fa9\u6027\u5207\u65ad\u70b9\u3092\u4f34\u3046\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<sup>32, 33<\/sup> \u3057\u304b\u3057\u3001\u3053\u306e\u53ef\u80fd\u6027\u3092\u3055\u3089\u306b\u691c\u8a0e\u3057\u3001\u57fa\u790e\u3068\u306a\u308b\u5206\u5b50\u6a5f\u69cb\u3092\u3055\u3089\u306b\u7279\u5fb4\u3065\u3051\u308b\u305f\u3081\u306b\u306f\u3001\u5207\u65ad\u70b9\u306e\u8a73\u7d30\u306a\u914d\u5217\u6c7a\u5b9a\u304c\u5fc5\u8981\u3067\u3042\u308d\u3046\u3002\u5fdc\u7528\u30b2\u30ce\u30e0\u7814\u7a76\u30bb\u30f3\u30bf\u30fc(TCAG) (http:\/\/projects.tcag.ca\/variation\/)<sup>34<\/sup> \u306e\u30b2\u30ce\u30e0\u5909\u7570\u4f53\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9(DGV) \u306f\u3001\u7d30\u80de\u907a\u4f1d\u5b66\u8005\u3084\u3001\u5bfe\u7167\u96c6\u56e3\u3067\u5341\u5206\u306b\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u826f\u6027\u5909\u7570\u4f53\u3067\u3042\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u306e\u540c\u5b9a\u306b\u5f79\u7acb\u3064\u30a2\u30ec\u30a4\u3092\u6271\u3046\u4ed6\u306e\u7814\u7a76\u8005\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u8cb4\u91cd\u306a\u3082\u306e\u3067\u3042\u308b\u3002 DGV\u3067\u306f\u3001\u3053\u306e\u9818\u57df\u306e\u4e00\u90e8(\u958b\u59cb\u70b9\u304b\u308912919491\u307e\u3067)\u304cWong\u3089<sup>35<\/sup>\u306b\u3088\u3063\u3066\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u306b\u7559\u610f\u3055\u308c\u305f\u3044\u3002 BAC\u30a2\u30ec\u30a4\u306b\u57fa\u3065\u304f\u3068\u300195\u4eba\u4e2d3\u4eba\u3067\u524a\u9664\u3055\u308c\u305f\u3002 \u7279\u306b\u3001\u6587\u732e\u3067\u767a\u8868\u3055\u308c\u3001DGV(4000\u4eba\u3092\u8d85\u3048\u308b\u5bfe\u7167\u500b\u4f53\u3092\u4ee3\u8868\u3059\u308b)\u3067\u5f15\u7528\u3055\u308c\u305f\u5927\u898f\u6a21\u5bfe\u7167\u30b3\u30db\u30fc\u30c8<sup>36-40<\/sup>\u306e\u4e2d\u3067\u3001\u3053\u306e\u9818\u57df\u306e\u5927\u90e8\u5206\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3092\u540c\u5b9a\u3057\u305f\u3082\u306e\u306f1\u3064\u3082\u306a\u3044\u3002 \u3055\u3089\u306b\u3001\u6211\u3005\u306e\u75c7\u4f8b\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u304cde novo\u3067\u3042\u308b\u3053\u3068\u304c\u8a3c\u660e\u3055\u308c\u305f\u305f\u3081\u3001DGV\u306b\u304a\u3051\u308b2007\u5e74\u306e\u5358\u4e00\u767b\u9332\u306f\u3001\u3053\u306e\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u304c\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u3067\u3042\u308b\u3053\u3068\u3092\u88cf\u4ed8\u3051\u308b\u30c7\u30fc\u30bf\u3092\u4e0a\u56de\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u3002 2007\u5e74\u306eBAC\u30a2\u30ec\u30a4\u3067\u5831\u544a\u3055\u308c\u305f\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53\u306e\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u3092\u691c\u8a3c\u3059\u308b\u3053\u3068\u3082\u3001\u3055\u3089\u306a\u308b\u6d1e\u5bdf\u3092\u63d0\u4f9b\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\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<p>\u8981\u7d04\u3059\u308b\u3068\u3001\u81e8\u5e8a\u907a\u4f1d\u5b66\u8005\u3068\u7d30\u80de\u907a\u4f1d\u5b66\u8005\u306e\u7dca\u5bc6\u306a\u5354\u529b\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u30c7\u30fc\u30bf\u306e\u76f8\u95a2\u306f\u300119p13.13\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4<\/a>\u306e\u540c\u5b9a\u3092\u5bb9\u6613\u306b\u3057\u305f\u3002 \u3053\u306e\u3053\u3068\u304b\u3089\u3001\u540c\u5b9a\u3055\u308c\u305f\u60a3\u8005\u306b\u5bfe\u3059\u308b\u8a3a\u65ad\u7684\u7cbe\u5bc6\u691c\u67fb(\u4f8b\u3048\u3070\u3001\u659c\u8996\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u5b8c\u5168\u306a\u773c\u79d1\u691c\u67fb\u304a\u3088\u3073\u8996\u795e\u7d4c\u306e\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u3092\u542b\u3080\u5fb9\u5e95\u7684\u306a\u8a55\u4fa1\u3001\u8133\u306e\u69cb\u9020\u7684\u7570\u5e38\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u3001\u5f8c\u982d\u524d\u982d\u5468\u56f2\u306e\u9023\u7d9a\u7684\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3001\u6442\u98df\u4e0d\u826f\u3001\u8179\u75db\u3001\u5614\u5410\u3092\u542b\u3080\u6d88\u5316\u7ba1\u75c7\u72b6\u306e\u65e2\u5f80\u6b74\u306e\u89e3\u660e)\u306e\u307b\u304b\u3001\u672c\u75c7\u5019\u7fa4\u306e\u3055\u3089\u306a\u308b\u6a5f\u80fd\u304a\u3088\u3073\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u306e\u95a2\u4fc2\u3092\u89e3\u660e\u3059\u308b\u7814\u7a76\u306e\u5bfe\u8c61\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u306b\u81f3\u3063\u305f\u3002<\/p>\n\n\n\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>\u8457\u8005\u3089\u306f\u3001\u672c\u8a66\u9a13\u306b\u7a4d\u6975\u7684\u306b\u53c2\u52a0\u3057\u3066\u304f\u3060\u3055\u3063\u305f\u60a3\u8005\u304a\u3088\u3073\u305d\u306e\u5bb6\u65cf\u306b\u611f\u8b1d\u3059\u308b\u3002 \u307e\u305f\u3001Heather Zierhut, MS, Genetic Counselor\u306e\u672c\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3078\u306e\u652f\u63f4\u306b\u611f\u8b1d\u3059\u308b\u3068\u3068\u3082\u306b\u3001\u30df\u30cd\u30bd\u30bf\u5927\u5b66\u533b\u7642\u30bb\u30f3\u30bf\u30fc\u3001Fairview\u306eCytogenetics Laboratory\u306e\u6280\u8853\u8005\u306e\u30a2\u30ec\u30a4-CGH\u30a2\u30c3\u30bb\u30a4\u306e\u5b9f\u65bd\u306b\u611f\u8b1d\u3059\u308b\u3002<\/p>\n\n\n\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 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