De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay. (21st March 2015)

• Record Type: Journal Article
• Authors: McMahon, Colin J; Breathnach, Colm; Betts, David R; Sharkey, Freddie H; Greally, Marie T
• Is Part Of: American journal of medical genetics. Volume 167:Number 5(2015:May)
• Page Start: 1134
• Page End: 1141
• Publication Date: 2015-03-21
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36978
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36978-sec-0001" sec-type="section"> <p>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 <italic>COL4A1</italic> and <italic>COL4A2</italic> 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.</p> </sec> </abstract>