Ring 2 chromosome: Ten-year follow-up report

Cote 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 Cote'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, Am, J, Med. Genet, 85:117-122, 1999 (C) 1999 Wiley-Liss, Inc.