title: Vision impairment with an interstitial deletion of the short arm of chromosome 8.
abstract: We describe the phenotype of a male infant with an interstitial deletion of the short arm of chromosome 8 (p. 11.2-p. 21). Visual impairment is a major feature in this case. The clinical, radiographic and electrodiagnostic findings are presented. Only four other cases have been reported in which visual problems are associated with a deletion of 8 p.
authors.affiliation: Department of Paediatric Ophthalmology, Royal Liverpool Children's Hospital - Alder Hey, Liverpool, United Kingdom.
authors.forename: Rosalind M K
authors.initials: RM
authors.lastname: Stewart
authors.forename: David C
authors.initials: DC
authors.lastname: Assheton
authors.forename: Richard P
authors.initials: RP
authors.lastname: Hagan
authors.forename: Arvind
authors.initials: A
authors.lastname: Chandna
mesh_terms: D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics*