Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple | Zendy

Tieneka M. Baker | Zendy; Erica L. Sturm | Zendy; Clesson Turner | Zendy; Scott M. Petersen | Zendy

Open Access

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

Author(s) -

Tieneka M. Baker,

Erica L. Sturm,

Clesson Turner,

Scott M. Petersen

Publication year - 2013

Publication title -

case reports in genetics

Language(s) - English

Resource type - Journals

eISSN - 2090-6544

pISSN - 2090-6552

DOI - 10.1155/2013/159143

Subject(s) - bardet–biedl syndrome , polydactyly , disease gene identification , medicine , snp array , consanguineous marriage , variable expression , consanguinity , autosomal recessive inheritance , prenatal diagnosis , pediatrics , holoprosencephaly , genetic testing , pregnancy , genetic counseling , genetics , obstetrics , gene , fetus , mutation , biology , single nucleotide polymorphism , phenotype , exome sequencing , anatomy , genotype

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.

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