New findings in the chromosome 13 long-arm deletion syndrome and retinoblastoma

Ophthalmology. 1979 Jun;86(6):1191-201. doi: 10.1016/s0161-6420(79)35429-x.


New clinical and pathologic findings in patients with deletion of the long arm of chromosome 13 (13q-) include optic nerve hypoplasia and retinal dysplasia. Fibroblasts derived from patients with a 13q- syndrome with and without retinoblastoma, as well as from familial and sporadic retinoblastoma, are a useful model for the study of genetic susceptibility to the development of spontaneous and radiation-induced cancers. Fibroblasts from patients with hereditary retinoblastoma appear more radiosensitive than fibroblasts from patients with sporadic retinoblastoma or normal control patients.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Cell Line
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, 13-15*
  • DNA Repair / radiation effects
  • Eye Abnormalities
  • Eye Neoplasms / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Neoplasms, Radiation-Induced / genetics
  • Optic Nerve / abnormalities
  • Retina / abnormalities
  • Retinoblastoma / genetics*
  • Retinoblastoma / radiotherapy
  • Syndrome