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Ring 2 chromosome: Ten-year follow-up report

✍ Scribed by Lacassie, Yves; Arriaza, Marta I.; Vargas, Alfonso; La Motta, Ivan

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
48 KB
Volume
85
Category
Article
ISSN
0148-7299

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✦ Synopsis

Co Λ†te Β΄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 mildto-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 Co Λ†te Β΄'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.

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