title: A report of a child with a deletion (9)(q34.3): a recognisable phenotype?
abstract: We report a case of a male infant who presented with congenital anomalies and was found to have a de novo deletion in the terminal region of the long arm of chromosome 9. He died at the age of 17 weeks of cardiorespiratory failure owing to RSV positive bronchiolitis. A review of previously published reports documented one previous report of a patient with a deletion of (9)(q34.3) and multiple congenital anomalies. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformations.
authors.affiliation: Department of Paediatrics, Chesterfield and North Derbyshire Royal Hospital, Calow, UK.
authors.forename: H
authors.initials: H
authors.lastname: Ayyash
authors.forename: R
authors.initials: R
authors.lastname: Mueller
authors.forename: E
authors.initials: E
authors.lastname: Maltby
authors.forename: P
authors.initials: P
authors.lastname: Horsfield
authors.forename: N
authors.initials: N
authors.lastname: Telford
authors.forename: R
authors.initials: R
authors.lastname: Tyler
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype