Similar chromosomal abnormalities in several retinoblastomas

Hum Genet. 1982;61(3):201-4. doi: 10.1007/BF00296442.


The study of banded chromosomes of nine sporadic unilateral retinoblastomas revealed near diploid karyotypes with multiple numerical and (or) structural abnormalities in all tumors. An identical marker i(6p) was noted in cells of the modal class of six retinoblastomas. Extra copies of the short arm of chromosome 6 were observed in seven tumors: +i(6p) in 6 and +6q-in one. Less regular but repeated findings were a loss of one sex chromosome, and markers 1p+ and 17q+. The structure of these markers was not identical in different tumors. Abnormalities of chromosome 13 were not observed in tumor cells, nor in blood lymphocytes stimulated by PHA.

MeSH terms

  • Aneuploidy
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, 1-3
  • Chromosomes, Human, 16-18
  • Chromosomes, Human, 6-12 and X
  • Eye Neoplasms / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Retinoblastoma / genetics*
  • Sex Chromosome Aberrations / genetics