Vision impairment with an interstitial deletion of the short arm of chromosome 8.
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.
Stewart
Rosalind M K
RM
Department of Paediatric Ophthalmology, Royal Liverpool Children's Hospital - Alder Hey, Liverpool, United Kingdom.
Assheton
David C
DC
Hagan
Richard P
RP
Chandna
Arvind
A
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*