Ring 2 chromosome: Ten-year follow-up report

• Published in: American journal of medical genetics Vol. 85; no. 2; pp. 117 - 122
• Main Authors: Lacassie, Yves, Arriaza, Marta I., Vargas, Alfonso, La Motta, Ivan
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 16-07-1999; Wiley-Liss
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Body Height - genetics; Body Weight - genetics; Child; Chromosome aberrations; Chromosomes, Human, Pair 2; deletion 2q; Developmental Disabilities - genetics; Follow-Up Studies; Gene Deletion; general ring syndrome; Humans; Infant, Newborn; intrauterine growth retardation; Male; Medical genetics; Medical sciences; Phenotype; postnatal growth retardation; ring 2 chromosome; Ring Chromosomes; Silver-Russell syndrome; Chromosomal aberration; Human; Pathogenesis; Developmental disorder; Genetic determinism; Long term; Survival; Growth retardation; Case study; Phenotype; Ring chromosome; Abnormal chromosome A2; Abnormal chromosome; Silver Russel syndrome; Bibliographic review
• ISSN: 0148-7299; 1096-8628
• 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. Am. J. Med. Genet. 85:117–122, 1999 © 1999 Wiley‐Liss, Inc.