Publisher： John Wiley & Sons Inc
E-ISSN： 1552-4833|167|5|1134-1141
ISSN： 1552-4825
Source： American Journal Of Medical Genetics Part A, Vol.167, Iss.5, 2015-05, pp. : 1134-1141
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Abstract
We describe a 6‐year‐old male, diagnosed at birth with double outlet right ventricle (DORV), anterior aorta, multiple ventricular septal defects, pulmonary stenosis, microcephaly and mildly dysmorphic craniofacial findings. Chromosomal analysis showed a normal male karyotype but on subsequent array comparative genomic hybridization (array CGH) analysis a de novo 2.5Mb loss in chromosome 13q at 13q33.3q34, together with an inherited gain at 4p12, were detected. The propositus underwent placement of a Blalock Taussig shunt and subsequently a Glenn and Fontan operation was performed. In this report we propose that COL4A1 and COL4A2 may be candidate genes for congenital heart disease (CHD) in individuals with a deletion in 13q within the 6Mb critical region for cardiac development proposed by Huang et al., [2012]. © 2015 Wiley Periodicals, Inc.
Related content
Access to resources
Recommend
Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features
Molecular Syndromology, Vol. 3, Iss. 1, 2012-05 ,pp. :
American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. :
American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. :