SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

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 nume...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-10, Vol.167A (10), p.2319-2326
Main Authors: Stark, Zornitza, Behrsin, Joanna, Burgess, Trent, Ritchie, Anna, Yeung, Alison, Tan, Tiong Y., Brown, Natasha J., Savarirayan, Ravi, Patel, Neil
Format: Article
Language:English
Subjects:
9q22.3 duplication
Chromosome Deletion
Chromosome Duplication
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 9 - genetics
congenital diaphragmatic hernia
Copy number
CRKL
Female
Hernia
Hernias
Hernias, Diaphragmatic, Congenital - genetics
Hernias, Diaphragmatic, Congenital - mortality
Hernias, Diaphragmatic, Congenital - pathology
Hernias, Diaphragmatic, Congenital - surgery
Humans
Infant
Infants
Inheritance Patterns
Karyotype
Male
microarray
Microarray Analysis
Morbidity
Pathogenesis
PAX3
Prenatal development
Retrospective Studies
Single-nucleotide polymorphism
Survival Analysis
TBX1
Trisomy
Trisomy - genetics
Trisomy - pathology
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37177