De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma

Hum Genet. 1987 Sep;77(1):51-4. doi: 10.1007/BF00284713.

Abstract

We report a case of a 5-month-old female with sporadic monolateral retinoblastoma (RB) with a constitutional de novo complex autosomal translocation involving chromosomes 8, 13 and 15 resulting in a deletion of chromosome 13q14 confirmed by esterase D assay. The translocation of the terminal portion of chromosome 8 has been observed by in situ hybridization with c-myc and thyroglobulin probes.

Publication types

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

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 8*
  • Eye Neoplasms / genetics*
  • Female
  • Genetic Markers
  • Humans
  • Infant
  • Karyotyping
  • Retinoblastoma / genetics*
  • Translocation, Genetic*

Substances

  • Genetic Markers