Retinoblastoma and Hirschsprung disease with a 13q14 to 22 deletion.
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.
Zaborowski
Anthony G
AG
Department of Ophthalmology, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban.
Kruse
Carl-Heinz
CH
Kavonic
Shelagh
S
Pergorano
Rosemary J
RJ
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*