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Abstract

Purpose

To report discordant retinoblastoma in monozygotic twins, confirmed by GeneScan.

Methods

One twin presented unilateral retinoblastoma that was treated with enucleation; the other twin had no retinoblastoma. To confirm monozygosity, DNA from leukocytes was analyzed through GeneScan with highly polymorphic markers; to exclude 13q14 deletion, FISH analysis was performed in leukocytes and oral cells of both twins and their parents and in retinal tissue of the affected twin with the cDNA LSI RB1 probe.

Results

GeneScan analysis confirmed monozygosity. 13q14 deletion was observed in homozygous state in retinal tissue and in heterozygous state in oral cells and leukocytes of the affected twin. The nonaffected twin and parents showed no deletion of 13q14.

Conclusions

These data show unexpected differences in monozygotic twins that could be explained by postzygotic events in embryonic development.

Keywords

GeneScan Monozygotic twins Mosaicism RB1 gene Retinoblastoma

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