Ring 2 chromosome: ten-year follow-up report

Am J Med Genet. 1999 Jul 16;85(2):117-22. doi: 10.1002/(sici)1096-8628(19990716)85:2<117::aid-ajmg4>3.0.co;2-o.


Côté et al. [1981: Ann Genet 24:231-235] suggested that ring chromosomes without a preceding deletion share a common pattern of phenotypic anomalies, independent of what chromosome is involved. The phenotype of such a "general ring syndrome" consists of growth failure without malformations, few or no minor anomalies, and mild-to-moderate mental retardation. We report on a patient with a ring 2 chromosome with features suggestive of Silver-Russell syndrome at birth and striking postnatal growth retardation with minor intellectual involvement supporting Côté's suggestion. This would be the ninth case of ring 2 chromosome published; the patient is the longest reported survivor, with a 10-year follow-up.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Body Height / genetics
  • Body Weight / genetics
  • Child
  • Chromosomes, Human, Pair 2*
  • Developmental Disabilities / genetics*
  • Follow-Up Studies
  • Gene Deletion
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype
  • Ring Chromosomes*