Retinoblastoma in a patient with a 13qXp translocation

Am J Ophthalmol. 1977 Oct;84(4):548-54. doi: 10.1016/0002-9394(77)90450-0.

Abstract

An infant girl with failure to thrive and bilateral retinoblastoma had a translocation of the long arm of chromosome 13 to the short arm of the X chromosome, and possible loss of a portion of the q 14 band. The lack of other major organ malformations in this patient emphasized the importance of considering chromosomal aberrations as a possible etiology of retinoblastoma in patients with nonspecific psychomotor retardation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Chromosome Aberrations / complications*
  • Chromosome Disorders
  • Chromosomes, Human, 13-15
  • Cryosurgery
  • Eye Neoplasms / complications*
  • Eye Neoplasms / etiology
  • Eye Neoplasms / pathology
  • Female
  • Growth Disorders / complications
  • Humans
  • Infant
  • Infant, Low Birth Weight
  • Infant, Newborn
  • Karyotyping
  • Male
  • Ophthalmologic Surgical Procedures
  • Pregnancy
  • Retinoblastoma / complications*
  • Retinoblastoma / pathology
  • X Chromosome