Link: http://www.ncbi.nlm.nih.gov/pubmed/26059276

Am J Med Genet A. 2015 Oct;167(10):2319-26. doi: 10.1002/ajmg.a.37177. Epub 2015 Jun 8.
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
Stark Z1, Behrsin J2, Burgess T1,3, Ritchie A1, Yeung A1, Tan TY1,3, Brown NJ1,3, Savarirayan R1,3, Patel N2.
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Abstract
Chromosomal abnormalities are an important factor in the pathogenesis of congenital diaphragmatic hernia (CDH), a relatively common congenital defect associated with high morbidity and mortality. The adoption of array-based platforms for chromosome analysis has resulted in the identification of numerous copy number variants (CNVs) in infants with CDH, highlighting the potential pathogenic role of many novel genes. We identified a retrospective cohort of 28 infants treated for CDH at a single institution who had microarray testing to determine the proportion of microarray abnormalities and whether these were contributory to CDH pathogenesis. Eight patients (29%) had microarray abnormality. Seven (25%) were considered likely contributory to CDH pathogenesis, including two mosaic trisomy 9s, a 9q22.31q22.32 microduplication, two atypical 22q11.21 microdeletions, a 2q35q36.1 microdeletion, and a 15q11.2 microdeletion, offering insights into the genetic mechanisms underlying CDH development. ? 2015 Wiley Periodicals, Inc.

? 2015 Wiley Periodicals, Inc.

KEYWORDS:
9q22.3 duplication; CRKL; PAX3; TBX1; congenital diaphragmatic hernia; microarray
PMID: 26059276 [PubMed - in process]