TY - JOUR
T1 - Discordant retinoblastoma in monozygotic twins
AU - Marcus, Dennis M.
AU - Papastergiou, Georgios I.
AU - Patel, Milan
AU - Pandya, Arti
AU - Brooks, Steven E.
N1 - Funding Information:
This work was supported in part by a grant from Research to Prevent Blindness, Inc, New York, New York.
PY - 1999/10
Y1 - 1999/10
N2 - 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.
AB - 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.
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U2 - 10.1016/S0002-9394(99)00197-X
DO - 10.1016/S0002-9394(99)00197-X
M3 - Article
C2 - 10577605
AN - SCOPUS:0032851479
SN - 0002-9394
VL - 128
SP - 524
EP - 526
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 4
ER -