title: SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
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.
authors.affiliation: VictorianClinicalGenetics Service and Murdoch Children Institute, Melbourne, Australia.
authors.forename: Zornitza
authors.initials: Z
authors.lastname: Stark
authors.affiliation: Newborn Intensive Care Unit, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Joanna
authors.initials: J
authors.lastname: Behrsin
authors.affiliation: VictorianClinicalGenetics Service and Murdoch Children Institute, Melbourne, Australia.|University of Melbourne Department of Paediatrics, Melbourne, Australia.
authors.forename: Trent
authors.initials: T
authors.lastname: Burgess
authors.affiliation: VictorianClinicalGenetics Service and Murdoch Children Institute, Melbourne, Australia.
authors.forename: Anna
authors.initials: A
authors.lastname: Ritchie
authors.affiliation: VictorianClinicalGenetics Service and Murdoch Children Institute, Melbourne, Australia.
authors.forename: Alison
authors.initials: A
authors.lastname: Yeung
authors.affiliation: VictorianClinicalGenetics Service and Murdoch Children Institute, Melbourne, Australia.|University of Melbourne Department of Paediatrics, Melbourne, Australia.
authors.forename: Tiong Y
authors.initials: TY
authors.lastname: Tan
authors.affiliation: VictorianClinicalGenetics Service and Murdoch Children Institute, Melbourne, Australia.|University of Melbourne Department of Paediatrics, Melbourne, Australia.
authors.forename: Natasha J
authors.initials: NJ
authors.lastname: Brown
authors.affiliation: VictorianClinicalGenetics Service and Murdoch Children Institute, Melbourne, Australia.|University of Melbourne Department of Paediatrics, Melbourne, Australia.
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.affiliation: Newborn Intensive Care Unit, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Neil
authors.initials: N
authors.lastname: Patel
mesh_terms: D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15; D002889:Chromosomes, Human, Pair 2; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D065630:Hernias, Diaphragmatic, Congenital / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns; D059785:Karyotype; D008297:Male; D046228:Microarray Analysis; D012189:Retrospective Studies; D016019:Survival Analysis; D014314:Trisomy / Q000235:genetics* / Q000473:pathology
keywords: 9q22.3 duplication; CRKL; PAX3; TBX1; congenital diaphragmatic hernia; microarray