Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation.
Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a postzygotic deficiency in mosaic cases and in tumoral cells may be secondary to germinal mutation.
Ribeiro
M C
MC
Disciplina de Genética da Escola Paulista de Medicina, São Paulo, Brazil.
Andrade
J A
JA
Erwenne
C M
CM
Brunoni
D
D
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009154:Mutation; D012175:Retinoblastoma / Q000235:genetics* / Q000473:pathology