Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple. (27th February 2013)

• Record Type: Journal Article
• Authors: Baker, Tieneka M.; Sturm, Erica L.; Turner, Clesson E.; Petersen, Scott M.
• Other Names: Ban Y. Academic Editor.; Cotter P. D. Academic Editor.; Gao P. Academic Editor.; Sazci A. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2013(2013)
• Publication Date: 2013-02-27
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2013/159143
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history.