t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome

Ann Genet. 1982;25(1):56-8.


Two cases of t(21q21q)/r[t(21q21q)] mosaic in unrelated infants, 17 and 14 months old respectively are reported. The proportion of cells with the ring chromosome was 45% in the former, 80% in the latter. Both cases had mild manifestations of the Down's syndrome. The origin of this unusual mosaicism as well as the significance of the difference in the proportions of the ring chromosome in the two have been discussed.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, 21-22 and Y*
  • Dermatoglyphics
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Mosaicism*
  • Translocation, Genetic