Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2

We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3...

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Autores principales: Puvabanditsin, Surasak, Puthenpura, Vidya, Gueye-Ndiaye, Seyni, Takyi, Michele, Madubuko, Adaora, Walzer, Lauren, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963235/
https://www.ncbi.nlm.nih.gov/pubmed/29922018
http://dx.doi.org/10.4103/apc.APC_21_17
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author Puvabanditsin, Surasak
Puthenpura, Vidya
Gueye-Ndiaye, Seyni
Takyi, Michele
Madubuko, Adaora
Walzer, Lauren
Mehta, Rajeev
author_facet Puvabanditsin, Surasak
Puthenpura, Vidya
Gueye-Ndiaye, Seyni
Takyi, Michele
Madubuko, Adaora
Walzer, Lauren
Mehta, Rajeev
author_sort Puvabanditsin, Surasak
collection PubMed
description We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.2 duplication.
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spelling pubmed-59632352018-06-19 Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2 Puvabanditsin, Surasak Puthenpura, Vidya Gueye-Ndiaye, Seyni Takyi, Michele Madubuko, Adaora Walzer, Lauren Mehta, Rajeev Ann Pediatr Cardiol Case Report We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.2 duplication. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC5963235/ /pubmed/29922018 http://dx.doi.org/10.4103/apc.APC_21_17 Text en Copyright: © 2018 Annals of Pediatric Cardiology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Puvabanditsin, Surasak
Puthenpura, Vidya
Gueye-Ndiaye, Seyni
Takyi, Michele
Madubuko, Adaora
Walzer, Lauren
Mehta, Rajeev
Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
title Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
title_full Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
title_fullStr Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
title_full_unstemmed Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
title_short Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
title_sort congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963235/
https://www.ncbi.nlm.nih.gov/pubmed/29922018
http://dx.doi.org/10.4103/apc.APC_21_17
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