title: Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients.
abstract: A cytogenetic survey of 200 retinoblastoma (Rb) patients revealed that approximately 8.5% of the fresh germinal mutations were microscopically detectable chromosome mutations, either interstitial deletions or rearrangements, involving 13q14. They showed a strong bias toward paternal origin, indicating a significant contribution of errors in paternal meiotic processes. The incidence of patients with Rb due to such chromosome mutations was estimated to be 1.9 x 10(-6) of live births. Age-specific incidence of Rb tumors suggested that the Rb mutations by such chromosomal mechanisms had a lower carcinogenic potential, as indicated by the later onset of disease, than other Rb mutations of germinal origin.
authors.affiliation: Radiation Biology Center, Kyoto University, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ejima
authors.forename: M S
authors.initials: MS
authors.lastname: Sasaki
authors.forename: A
authors.initials: A
authors.lastname: Kaneko
authors.forename: H
authors.initials: H
authors.lastname: Tanooka
mesh_terms: D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009154:Mutation; D012175:Retinoblastoma / Q000235:genetics*