Abstract
Abstract Purpose We report two (twin A and twin B) cases of unilateral retinoblastoma in identical female twins with 13q deletion syndrome. Family history for retinoblastoma was negative. Karyotypic analyses (peripheral lymphocytes) of the brother and their parents showed no abnormalities. Methods Twin A has demonstrated unilateral, multifocal retinoblastoma (left eye), diagnosed at the age of 5 months, which was recalcitrant to systemic chemoreduction, than treated with intraarterial chemotherapy. Twin B has demonstrated unilateral unifocal retinoblastoma (right eye) at 9 months of age, successfully treated with brachytherapy. Both had prominent eyebrows, broad nasal bridge, large, prominent, low – set ears, bulbous tipped nose, large mouth, and thin upper lip. MRI revealed ventricles dilatation associated with corpus callosum agenesis. 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. Conclusion We describe two cases of 13q deletion syndrome in bicorial identical twins.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
