Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy

Am J Med Genet. 1983 Nov;16(3):323-9. doi: 10.1002/ajmg.1320160305.


If a ring 21, originating from breaks close to the telomere of 21q and anywhere in 21p, replaces a normal 21, it may be associated with an apparently normal phenotype. An apparently normal mother and son were ascertained by a prenatal chromosome study. A second mother, with a ring 21 but without gross anomalies, is short of stature, has epilepsy and has a low normal intelligence. He daughter is a mosaic: 46,XX/47,XX,+r(21) and has the Down's syndrome. None of these four persons was found to have mitoses with more than one ring 21 or with rings of double size.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, 21-22 and Y*
  • Dermatoglyphics
  • Down Syndrome / genetics*
  • Epilepsy / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Italy
  • Male
  • Mosaicism
  • Pedigree
  • Phenotype*
  • Switzerland