Summary
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.
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Ejima, Y., Sasaki, M.S., Kaneko, A. et al. Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients. Hum Genet 79, 118–123 (1988). https://doi.org/10.1007/BF00280548
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DOI: https://doi.org/10.1007/BF00280548