Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients.
Sixty-six retinoblastoma patients were investigated using high resolution banding techniques, sister chromatid exchange (SCE) studies, and esterase-D phenotype determination and dosage. Seven patients (in six families) were found to be carriers of a rearrangement of band 13q14 due to de novo deletions, apparently balanced de novo translocations, or parental insertions. The possible role of submicroscopic parental insertions is suggested to explain transmission of nonchromosomal forms through unaffected carriers.
D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009283:Naphthol AS D Esterase / Q000235:genetics; D010375:Pedigree; D012175:Retinoblastoma / Q000201:enzymology / Q000235:genetics*; D012854:Sister Chromatid Exchange
D009283:Naphthol AS D Esterase