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 n...

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Bibliographic Details
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
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Summary:	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.
Bibliography:	Fazio-Lacalle family ark:/67375/WNG-SLBPMB6D-3 istex:731608B197B5CED83B4AB6A8DB9159F760786943 ArticleID:AJMG4 ObjectType-Case Study-3 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Review-1 ObjectType-Feature-5 ObjectType-Report-2 ObjectType-Article-4
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19990716)85:2<117::AID-AJMG4>3.0.CO;2-O