Williams-Beuren syndrome: Report of two cases with molecular diagnosis

https://doi.org/10.25100/cm.v42i4.954

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Published: Jul 11, 2024
Updated: 2024-07-11
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2024-07-11 (2)
Issue: Vol. 42 No. 4 (2011)
Section Case Report

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Authors

Harry Mauricio Pachajoa Universidad Icesi
Carolina Isaza Universidad del Valle
Carolina Vargas Universidad del Valle
Wilmar Saldarriaga Universidad del Valle
Abstract
Williams-Beuren syndrome has an estimated incidence of one case in every 10,000 births. It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. This article focuses on the report of two cases, with classic but varied phenotypic findings, of this syndrome for which molecular diagnosis with fluorescent in situ hybridization was available. Additionally, we suggest a protocol for complementary studies needed to characterize each patient.
Keywords
  • Williams syndrome
  • Aortic stenosis Supravalvular
  • Phenotype
  • Mental retardation
  • Human chromosomes Pair 7
  • in situ hybridization fluorescence
References

Burn J. Williams’s syndrome. J Med Genet. 1986; 23: 389-95.2.Antonell A, del Campo M, Flores R, Campuzano V, Pérez-Jurado LA. Síndrome de Williams: aspectos clínicos y basesmoleculares. Rev Neurol. 2006; 42: S69-S75.3.Pober BR. Williams-Beuren syndrome. N Eng J Med. 2010;362: 239-52.4.Francke U. Williams-Beuren syndrome: Genes andmechanisms. Hum Mol Genet. 1999; 8: 1947-54.5.Järvinen-Pasley A, Bellugi U, Reilly J, Mills DL, GalaburdaA, Reiss AL, et al. Defining the social phenotype in Williamssyndrome: A model for linking gene, the brain and behavior.Dev Psychopathol. 2008; 20: 1-35.6.Fernández-Moreno CJ. Un caso de síndrome de Williams-Beuren o facies de gnomo o duendecillo. Rev Colomb Psiq.2005; 34: 435-40.7.Pober BR, Johnson M, Urban Z. Mechanisms and treatment ofcardiovascular disease in Williams-Beuren syndrome. J ClinInvest. 2008; 118: 1606-15.8.Committee on Genetics. American Academy of Pediatrics.Health care supervision for children with Williams syndrome.Pediatrics. 2001; 107: 1192-204.

How to Cite
Pachajoa, H. M., Isaza, C., Vargas, C., & Saldarriaga, W. (2024). Williams-Beuren syndrome: Report of two cases with molecular diagnosis. Colombia Medica, 42(4), 523–528. https://doi.org/10.25100/cm.v42i4.954 (Original work published November 24, 2011)
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