title: Retinoblastoma and Hirschsprung disease with a 13q14 to 22 deletion.
abstract: Hirschsprung disease, bilateral retinoblastoma, and craniofacial dysmorphism with an interstitial deletion of chromosome 13 is a rare gene deletion syndrome that has twice before been described in white children. The authors present the third report of such a case in a South African child of Indian-Asian descent.
authors.affiliation: Department of Ophthalmology, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban.
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Zaborowski
authors.forename: Carl-Heinz
authors.initials: CH
authors.lastname: Kruse
authors.forename: Shelagh
authors.initials: S
authors.lastname: Kavonic
authors.forename: Rosemary J
authors.initials: RJ
authors.lastname: Pergorano
mesh_terms: D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D019572:Retinal Neoplasms / Q000150:complications / Q000235:genetics*; D012175:Retinoblastoma / Q000150:complications / Q000235:genetics*