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Chromosome 13q deletion syndrome involving 13q31-qter: A case report

Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, c...

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Autores principales: Wang, Yue-Ping, Wang, Da-Jia, Niu, Zhi-Bin, Cui, Wan-Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436299/
https://www.ncbi.nlm.nih.gov/pubmed/28393221
http://dx.doi.org/10.3892/mmr.2017.6425
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author Wang, Yue-Ping
Wang, Da-Jia
Niu, Zhi-Bin
Cui, Wan-Ting
author_facet Wang, Yue-Ping
Wang, Da-Jia
Niu, Zhi-Bin
Cui, Wan-Ting
author_sort Wang, Yue-Ping
collection PubMed
description Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31-qter; 20.38 Mb in 13q31.3-qter and 12.99 Mb in 13q33.1-qter in patients 1 and 2, respectively. Comparisons between the results observed in the present study and those obtained from patients in previous studies indicate that the gene encoding ephrin B2 (EFNB2) located in the 13q33.3-q34 region, and the gene coding for endothelin receptor type B, in the 13q22.1–31.3 region, may be suitable candidate genes for the observed urogenital/anorectal anomalies. In addition, the microRNA-17-92a-1 cluster host gene and the glypican 6 gene in the 13q31.3 region, as well as EFNB2 and the collagen type IV a1 chain (COL4A1) and COL4A2 genes in the 13q33.1-q34 region may together contribute to cardiovascular disease development. It is therefore possible that these genes may be involved in the pathogenesis of complex type congenital heart disease in patients with 13q deletion syndrome.
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spelling pubmed-54362992017-05-19 Chromosome 13q deletion syndrome involving 13q31-qter: A case report Wang, Yue-Ping Wang, Da-Jia Niu, Zhi-Bin Cui, Wan-Ting Mol Med Rep Articles Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31-qter; 20.38 Mb in 13q31.3-qter and 12.99 Mb in 13q33.1-qter in patients 1 and 2, respectively. Comparisons between the results observed in the present study and those obtained from patients in previous studies indicate that the gene encoding ephrin B2 (EFNB2) located in the 13q33.3-q34 region, and the gene coding for endothelin receptor type B, in the 13q22.1–31.3 region, may be suitable candidate genes for the observed urogenital/anorectal anomalies. In addition, the microRNA-17-92a-1 cluster host gene and the glypican 6 gene in the 13q31.3 region, as well as EFNB2 and the collagen type IV a1 chain (COL4A1) and COL4A2 genes in the 13q33.1-q34 region may together contribute to cardiovascular disease development. It is therefore possible that these genes may be involved in the pathogenesis of complex type congenital heart disease in patients with 13q deletion syndrome. D.A. Spandidos 2017-06 2017-04-03 /pmc/articles/PMC5436299/ /pubmed/28393221 http://dx.doi.org/10.3892/mmr.2017.6425 Text en Copyright: © Wang et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , 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 Articles
Wang, Yue-Ping
Wang, Da-Jia
Niu, Zhi-Bin
Cui, Wan-Ting
Chromosome 13q deletion syndrome involving 13q31-qter: A case report
title Chromosome 13q deletion syndrome involving 13q31-qter: A case report
title_full Chromosome 13q deletion syndrome involving 13q31-qter: A case report
title_fullStr Chromosome 13q deletion syndrome involving 13q31-qter: A case report
title_full_unstemmed Chromosome 13q deletion syndrome involving 13q31-qter: A case report
title_short Chromosome 13q deletion syndrome involving 13q31-qter: A case report
title_sort chromosome 13q deletion syndrome involving 13q31-qter: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436299/
https://www.ncbi.nlm.nih.gov/pubmed/28393221
http://dx.doi.org/10.3892/mmr.2017.6425
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