Constitutional karyotype in retinoblastoma. Case report and review of literature

Ophthalmic Paediatr Genet. 1989 Jun;10(2):129-50. doi: 10.3109/13816818909088353.

Abstract

High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.

Publication types

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

MeSH terms

  • Carboxylesterase*
  • Carboxylic Ester Hydrolases / blood
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13*
  • Eye Neoplasms / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Pedigree
  • Retinoblastoma / genetics*

Substances

  • Carboxylic Ester Hydrolases
  • Carboxylesterase
  • ESD protein, human