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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Detalles Bibliográficos
Autores principales: Baker, Tieneka M., Sturm, Erica L., Turner, Clesson E., Petersen, Scott M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603615/
https://www.ncbi.nlm.nih.gov/pubmed/23533844
http://dx.doi.org/10.1155/2013/159143
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author Baker, Tieneka M.
Sturm, Erica L.
Turner, Clesson E.
Petersen, Scott M.
author_facet Baker, Tieneka M.
Sturm, Erica L.
Turner, Clesson E.
Petersen, Scott M.
author_sort Baker, Tieneka M.
collection PubMed
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.
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spelling pubmed-36036152013-03-26 Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple Baker, Tieneka M. Sturm, Erica L. Turner, Clesson E. Petersen, Scott M. Case Rep Genet Case Report 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. Hindawi Publishing Corporation 2013 2013-03-04 /pmc/articles/PMC3603615/ /pubmed/23533844 http://dx.doi.org/10.1155/2013/159143 Text en Copyright © 2013 Tieneka M. Baker et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Baker, Tieneka M.
Sturm, Erica L.
Turner, Clesson E.
Petersen, Scott M.
Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
title 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_short 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603615/
https://www.ncbi.nlm.nih.gov/pubmed/23533844
http://dx.doi.org/10.1155/2013/159143
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