Discordant retinoblastoma in monozygotic twins

Dennis M. Marcus, Georgios I. Papastergiou, Milan Patel, Arti Pandya, Steven E. Brooks

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

PURPOSE: We report cases of discordant retinoblastoma in twins confirmed to be monozygotic by DNA analysis.METHODS: Twin A demonstrated severe, bilateral, multifocal retinoblastoma, which was recalcitrant to external beam irradiation and chemoreduction. Twin B has not demonstrated retinoblastoma. DNA analysis was performed with polymorphic microsatellite markers to confirm monozygosity. Single-stranded conformation polymorphism and Southern blot analysis of the retinoblastoma gene were performed.RESULTS: Molecular genetic analyses confirmed monozygosity but failed to disclose a retinoblastoma gene mutation in either twin.CONCLUSIONS: The extreme phenotypic discordance may best be explained by an unidentified, postzygotic retinoblastoma gene mutation in early embryonic development of the affected twin. Copyright (C) 1999 Elsevier Science Inc.

Original languageEnglish (US)
Pages (from-to)524-526
Number of pages3
JournalAmerican Journal of Ophthalmology
Volume128
Issue number4
DOIs
StatePublished - Oct 1999
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

Fingerprint Dive into the research topics of 'Discordant retinoblastoma in monozygotic twins'. Together they form a unique fingerprint.

Cite this