{"id":314,"date":"2012-04-12T17:04:58","date_gmt":"2012-04-12T17:04:58","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=314"},"modified":"2026-02-25T20:38:48","modified_gmt":"2026-02-25T20:38:48","slug":"genome-wide-linkage-and-copy-number-variation-analysis-reveals-710-kb-duplication-on-chromosome-1p31-3-responsible-for-autosomal-dominant-omphalocele","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/04\/12\/genome-wide-linkage-and-copy-number-variation-analysis-reveals-710-kb-duplication-on-chromosome-1p31-3-responsible-for-autosomal-dominant-omphalocele\/","title":{"rendered":"Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele (Contributed by Dr.\u00a0Uppala Radhakrishna)"},"content":{"rendered":"

An omphalocele is a birth defect affecting about 1 in 5000 live births and characterized by the internal organs located outside the abdomen.\u00a0 We conducted a genetic study using linkage analysis and microarray with quantitative microsphere hybridization techniques in a large family with multiple affected individuals and found a 710 kb duplication of chromosome band 1p31.3 involving seven genes (FOXD3, ALG6, ITGB3BP, KIAA1799, DLEU2L, PGM1<\/em> and ROR1<\/em>).\u00a0 This suggests that the omphalocele resulted from over expression of one or more of these genes.\u00a0 Our observation is the first to elucidate the molecular cause of omphaloceles in the general population. (http:\/\/jmg.bmj.com\/content\/49\/4\/270.abstract<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

An omphalocele is a birth defect affecting about 1 in 5000 live births and characterized by the internal organs located outside the abdomen.\u00a0 We conducted a genetic study using linkage analysis and microarray with quantitative microsphere hybridization techniques in a large family with multiple affected individuals and found a 710 kb duplication of chromosome band […]<\/p>\n

Read More…<\/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-314","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nGenome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele (Contributed by Dr.\u00a0Uppala Radhakrishna) - 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\/04\/12\/genome-wide-linkage-and-copy-number-variation-analysis-reveals-710-kb-duplication-on-chromosome-1p31-3-responsible-for-autosomal-dominant-omphalocele\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele (Contributed by Dr.\u00a0Uppala Radhakrishna) - 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