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.
Department of Pediatrics, Louisiana State University Medical Center, New Orleans 70112-2822, USA. ylacassie@mail.peds.lsumc.edu
Y
Y
Lacassie
M I
MI
Arriaza
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A
Vargas
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I
La Motta
D000015:Abnormalities, Multiple / Q000235:genetics; D001827:Body Height / Q000235:genetics; D001835:Body Weight / Q000235:genetics; D002648:Child; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics*; D005500:Follow-Up Studies; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012303:Ring Chromosomes