Phenotypic correlations in patients with ring chromosome 22

Clin Genet. 1977 Oct;12(4):239-49. doi: 10.1111/j.1399-0004.1977.tb00933.x.


This paper reports two patients with a ring 22 chromosome which has been confirmed by Q-banding. The literature contains 19 patients with a ring G-group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients have included: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration, and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Chromosome Aberrations*
  • Chromosomes, Human, 21-22 and Y*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Phenotype
  • Syndrome