Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Autores de IIS La Fe

• Carmen Orellana Alonso

  Autor

• Jordi Bernabeu Verdu

  Autor

• Sandra Monfort Membrado

  Autor

• Mónica Pilar Roselló Piera

  Autor

• Juan Silvestre Oltra Soler

  Autor

• Isabel Ferrer Bradley

  Autor

• Ramiro De La Cruz Quiroga

  Autor

• Isabel Martinez Garay

  Autor

• 

  Francisco Martínez Castellano

  Autor

Grupos

• Investigación Clínica y Traslacional en Cáncer

Abstract

Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In this paper we present a new WBCR microduplication case, which supports the wide variability displayed by this duplication in the phenotype. The WBCR microduplication may be associated with autistic spectrum disorder, but most reported cases do not show this behavioral disorder, or may even show a hypersociable personality, as with our patient. From the present case and a review of the 12 previously described,1(-)6 we conclude that the phenotype associated with duplication of WBCR can affect the same domains as WBCR deletion, but that they cluster near the polar ends of social relationship (autism-like v hypersociability), language (expressive language impairment v "cocktail party" speech), visuospatial (severe v normal), mental retardation (severe v mild) and dysmorphic (severe v mild) features.