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

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

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 affecte...

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Main Authors: Tieneka M. Baker, Erica L. Sturm, Clesson E. Turner, Scott M. Petersen
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2013/159143
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spelling doaj-6d6c17001df648de861c36ddc9c29b172020-11-24T23:15:29ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/159143159143Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous CoupleTieneka M. Baker0Erica L. Sturm1Clesson E. Turner2Scott M. Petersen3Department of Obstetrics and Gynecology, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20889, USAPrenatal Assessment Center, Walter Reed National Military Medical Center, Bethesda, MD 20889, USAMedical Genetics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USAMaternal-Fetal Medicine, Walter Reed National Military Medical Center, Bethesda, MD 20889, USABardet-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.http://dx.doi.org/10.1155/2013/159143
collection DOAJ
language English
format Article
sources DOAJ
author Tieneka M. Baker
Erica L. Sturm
Clesson E. Turner
Scott M. Petersen
spellingShingle Tieneka M. Baker
Erica L. Sturm
Clesson E. Turner
Scott M. Petersen
Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
Case Reports in Genetics
author_facet Tieneka M. Baker
Erica L. Sturm
Clesson E. Turner
Scott M. Petersen
author_sort Tieneka M. Baker
title Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
title_short Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
title_full Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
title_fullStr Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
title_full_unstemmed Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
title_sort diagnosis of bardet-biedl syndrome in consecutive pregnancies affected with echogenic kidneys and polydactyly in a consanguineous couple
publisher Hindawi Limited
series Case Reports in Genetics
issn 2090-6544
2090-6552
publishDate 2013-01-01
description 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.
url http://dx.doi.org/10.1155/2013/159143
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AT ericalsturm diagnosisofbardetbiedlsyndromeinconsecutivepregnanciesaffectedwithechogenickidneysandpolydactylyinaconsanguineouscouple
AT clessoneturner diagnosisofbardetbiedlsyndromeinconsecutivepregnanciesaffectedwithechogenickidneysandpolydactylyinaconsanguineouscouple
AT scottmpetersen diagnosisofbardetbiedlsyndromeinconsecutivepregnanciesaffectedwithechogenickidneysandpolydactylyinaconsanguineouscouple
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