Venegas-Vega CA , Jiménez-Vaca AL , Kofman-Alfaro SH , Cuevas-Covarrubias SA

Language: Spanish
References: 24
Page: 192-197
PDF size: 108.80 Kb.

ABSTRACT

Williams Syndrome (WS) is a contiguous gene deletion disorder caused by hemizygosity for genes in 7q11.23 including the elastin locus (ELN). It occurs in 1 of 20,000-50,000 new born. Clinically the classical WS-phenotype is characterized by elastin arteriopathy, supravalvular aortic stenosis, connective tissue abnormalities, particular facial appearance, growth and psychomotor retardation with impaired visuo spatial cognition and specific language as well as behavioral abnormalities. About 95% of patients with the classical WS-phenotype present deletion of the 7q 11.23 region, the critical region of Williams syndrome, (WSCRD) The aim of the present study was to identify through FISH the WSCRD in a sample of 6 Mexican patients; 5 with classical phenotype and 1 with atypical phenotype. Five patients with classical phenotype harbored the WSCRD while the patient with atypical phenotype had no deletion. The occurrence of WSCRD in our study was similar to that reported in the literature. We state the importance of performing molecular studies in the patients with SW to offer an adequate genetic counseling.

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