Retinoblastoma in a patient with an X;13 translocation and facial abnormalities consistent with 13q-syndrome.

Abstract

To report a patient with an X;13 translocation and facial features of 13q-syndrome who developed retinoblastoma. Observational case report. A 9-month-old girl known to have an X;13 chromosomal translocation with a break point at 13q12.1 and dysmorphic facial features characteristic of 13q-syndrome presented with leukocoria in her right eye. By clinical examination, retinoblastoma was diagnosed in the right eye. Chromosomal abnormalities on the long arm of chromosome 13 predispose to retinoblastoma formation and characteristic facial features.