{"id":392,"date":"2012-10-10T15:58:59","date_gmt":"2012-10-10T15:58:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=392"},"modified":"2026-02-25T20:28:46","modified_gmt":"2026-02-25T20:28:46","slug":"de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Dr. Lan Yu)"},"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. (<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=\"https:\/\/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":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-392","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>De novo copy number variants are associated with congenital diaphragmatic hernia (Contributed by Dr. Lan Yu) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/10\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"De novo copy number variants are associated with congenital diaphragmatic hernia (Contributed by Dr. Lan Yu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/10\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-10-10T15:58:59+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:28:46+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"De novo copy number variants are associated with congenital diaphragmatic hernia (Contributed by Dr. Lan Yu)\",\"datePublished\":\"2012-10-10T15:58:59+00:00\",\"dateModified\":\"2026-02-25T20:28:46+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\\\/\"},\"wordCount\":109,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/10\\\/de-novo-copy-number-variants-are-associated-with-congenital-diaphragmatic-hernia\\\/\",\"name\":\"De novo copy number variants are associated with congenital diaphragmatic hernia (Contributed by Dr. Lan Yu) - 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