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Clinical, cytogenetic, and molecular testing of Argentine patients with retinoblastoma

✍ Scribed by Alejandra Arbetman; Mirta Abdala; Adriana Fandiño; Jorge Herrera; Sergio Baranzini; Daniel Borelina; Diana Parma; Julio Manzitti; Cristina Barreiro; Florencia Giliberto; Irene Szijan

Book ID
117732098
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
885 KB
Volume
2
Category
Article
ISSN
1528-3933

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We report on a 4-year-old girl with retinoblastoma and de novo balanced translocation [46,X,t (X;13) (q23;q13)1. Unilateral retinoblastoma was discovered at age 9 months along with developmental delay and several manifestations of Tbrner syndrome. Chromosome studies showed an W13 translocation and a