Two forms of ring 13 in a child with rhabdomyosarcoma

Am J Med Genet. 1991 Jun 1;39(3):285-7. doi: 10.1002/ajmg.1320390308.

Abstract

Mosaicism for two forms of ring 13 was found in a child with embryonal rhabdomyosarcoma of the bladder, minor anomalies, and developmental delay. Her chromosome constitution was 46,XX,r(13)(p11q34)/46,XX,r del(13)(p11q14). Both cell lines were present in lymphocytes and fibroblasts. The cell line with the smaller ring chromosome predominated in both tissues. The child's manifestations reflect the presence of both cell lines.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Pair 13*
  • Female
  • Fibroblasts / ultrastructure
  • Humans
  • Infant
  • Lymphocytes / ultrastructure
  • Mosaicism
  • Peutz-Jeghers Syndrome / genetics
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / pathology
  • Ring Chromosomes*
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / pathology