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

Am J Ophthalmol. 2002 Feb;133(2):285-7. doi: 10.1016/s0002-9394(01)01287-9.

Abstract

Purpose: To report a patient with an X;13 translocation and facial features of 13q-syndrome who developed retinoblastoma.

Design: Observational case report.

Methods: 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.

Results: By clinical examination, retinoblastoma was diagnosed in the right eye.

Conclusion: Chromosomal abnormalities on the long arm of chromosome 13 predispose to retinoblastoma formation and characteristic facial features.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 13 / genetics*
  • Facial Bones / abnormalities*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Retinal Neoplasms / diagnosis
  • Retinal Neoplasms / genetics*
  • Retinoblastoma / diagnosis
  • Retinoblastoma / genetics*
  • Syndrome
  • Translocation, Genetic*
  • X Chromosome / genetics*