Diagnosis of retinoblastoma in a presymptomatic stage after detection of interstitial chromosomal deletion 13q

Ophthalmic Genet. 1994 Mar;15(1):19-24. doi: 10.3109/13816819409056906.


In a newborn with only minor malformations the finding of an extended interstitial chromosome deletion 13q was unexpectedly found [46,XY,del(13) (q14.11q22.2)]. The included deletion of chromosome band 13q14, which is known to be predisposing for retinoblastoma (Rb), gave rise to subsequent ophthalmological inspection. A multifocal tumor was detected immediately in the right eye and 11 months later contralaterally. In contrast to the Knudson hypothesis, which suggests a high risk of a multifocal and bilateral tumor in patients with an inherited mutation of the RB-1 gene, literature data indicate a reduced tumorigenesis in patients with a cytogenetic deletion of the critical Rb region of chromosome 13. However, the authors' patient shows that even with a cytogenetic deletion early, bilateral, and multifocal tumor formation is possible. Reliable risk estimates of tumorigenesis for patients with a chromosome deletion cannot be given, since most of these were ascertained by their tumor.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Eye Neoplasms / diagnosis*
  • Eye Neoplasms / genetics
  • Face / abnormalities
  • Genes, Retinoblastoma / genetics
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Neoplasm Staging
  • Retinoblastoma / diagnosis*
  • Retinoblastoma / genetics