{"id":392,"date":"2012-10-10T15:58:59","date_gmt":"2012-10-10T15:58:59","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=392"},"modified":"2012-10-10T15:58:59","modified_gmt":"2012-10-10T15:58:59","slug":"de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia","status":"publish","type":"post","link":"http:\/\/stg-blogs.bmj.com\/jmg\/2012\/10\/10\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\/","title":{"rendered":"De novo copy number variants are associated with congenital diaphragmatic hernia"},"content":{"rendered":"<p>Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. In this study, we used karyotypes and chromosome microarray analysis in 256 parent-child trios to investigate the frequency of chromosomal anomalies and de novo copy number variants in CDH patients. \u00a0Sixteen (6.3 %) of the patients had cytogenetic anomalies including 3 aneuploidies, 2 unbalanced translocations, and 11 patients with de novo CNVs. Gene prioritization identified a set candidate genes including <em>FOXC1, FOXF2, PDGFA, FGF6, COL4A1, COL4A2, SOX7, BNC1, BID, <\/em>and<em> TBX1 <\/em>in these chromosomal regions for further analysis. (By Dr. Lan Yu, <a href=\"http:\/\/jmg.bmj.com\/content\/49\/10\/650\">http:\/\/jmg.bmj.com\/content\/49\/10\/650<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. In this study, we used karyotypes and chromosome microarray analysis in 256 parent-child trios to investigate the frequency of chromosomal anomalies and de novo copy number variants in CDH patients. \u00a0Sixteen (6.3 %) of the patients had cytogenetic anomalies including 3 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"http:\/\/stg-blogs.bmj.com\/jmg\/2012\/10\/10\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-392","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/392","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=392"}],"version-history":[{"count":0,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/392\/revisions"}],"wp:attachment":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=392"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=392"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=392"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}