Article Text

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
  1. C Orellana1,
  2. Jordi Bernabeu1,2,
  3. Sandra Monfort1,
  4. Monica Rosello1,
  5. Juan Silvestre Oltra1,
  6. Irene Ferrer1,
  7. Ramiro Quiroga1,
  8. Isabel Martinez-garay3,
  9. Francisco Martinez1
  1. 1
    Hospital Universitario La Fe, Unidad de Genetica, Avenida de Campanar 21, Valencia, 46009, Spain
  2. 2
    Universitat de Valencia, MIDE, Avda Blasco Ibañez, Valencia, 46010, Spain
  3. 3
    Universitat de Valencia, Genetica, Dr Moliner, Burjasot, 46120, Spain
  1. orellana_car{at}gva.es

Summary

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,16 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.

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Footnotes

  • Competing interests: None.

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