Severe expressive-language delay related to duplication of the Williams-Beuren locus.

  title={Severe expressive-language delay related to duplication of the Williams-Beuren locus.},
  author={Martin J Somerville and Carolyn B. Mervis and Edwin J. Young and E. Philip Seo and Miguel Del Campo and Stephen J. Bamforth and Ella Peregrine and Wayne Loo and Margaret Lilley and Luis A. P{\'e}rez-Jurado and Colleen A. Morris and Stephen W. Scherer and Lucy R. Osborne},
  journal={The New England journal of medicine},
  volume={353 16},
The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent… CONTINUE READING
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