Ring 2 chromosome: ten-year follow-up report

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.