Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications

We present the case of a 30‐year‐old woman with a history of perinatal complications as well as bladder and urinary disease through her childhood and adult life. Microarray comparative genomic hybridization (aCGH) analysis revealed a 1.3 megabase duplication at chromosome 8q21.11 encompassing the CA...

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Detalles Bibliográficos
Autores principales: Reyes Barron, Cynthia, Evans, Andrew G., Miyamoto, Hiroshi, Zhang, Bin, Iqbal, M. Anwar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186884/
https://www.ncbi.nlm.nih.gov/pubmed/30349704
http://dx.doi.org/10.1002/ccr3.1746
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author Reyes Barron, Cynthia
Evans, Andrew G.
Miyamoto, Hiroshi
Zhang, Bin
Iqbal, M. Anwar
author_facet Reyes Barron, Cynthia
Evans, Andrew G.
Miyamoto, Hiroshi
Zhang, Bin
Iqbal, M. Anwar
author_sort Reyes Barron, Cynthia
collection PubMed
description We present the case of a 30‐year‐old woman with a history of perinatal complications as well as bladder and urinary disease through her childhood and adult life. Microarray comparative genomic hybridization (aCGH) analysis revealed a 1.3 megabase duplication at chromosome 8q21.11 encompassing the CASC9 and HNF4G genes.
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spelling pubmed-61868842018-10-22 Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications Reyes Barron, Cynthia Evans, Andrew G. Miyamoto, Hiroshi Zhang, Bin Iqbal, M. Anwar Clin Case Rep Case Reports We present the case of a 30‐year‐old woman with a history of perinatal complications as well as bladder and urinary disease through her childhood and adult life. Microarray comparative genomic hybridization (aCGH) analysis revealed a 1.3 megabase duplication at chromosome 8q21.11 encompassing the CASC9 and HNF4G genes. John Wiley and Sons Inc. 2018-08-16 /pmc/articles/PMC6186884/ /pubmed/30349704 http://dx.doi.org/10.1002/ccr3.1746 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Reyes Barron, Cynthia
Evans, Andrew G.
Miyamoto, Hiroshi
Zhang, Bin
Iqbal, M. Anwar
Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
title Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
title_full Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
title_fullStr Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
title_full_unstemmed Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
title_short Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
title_sort novel 1.3 mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186884/
https://www.ncbi.nlm.nih.gov/pubmed/30349704
http://dx.doi.org/10.1002/ccr3.1746
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