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Previous Volume 353:1694-1701 October 20, 2005 Number 16 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Supplementary Material Perspective by Fisher, S. E. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

SUMMARY

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 expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.

Source Information

From the Department of Medical Genetics, University of Alberta, Edmonton, Alta., Canada (M.J.S., S.B., M.L.); the Department of Psychological and Brain Sciences, University of Louisville, Louisville, Ky. (C.B.M., E.P.); the Institute of Medical Science (E.J.Y., L.R.O.) and the Departments of Molecular and Medical Genetics (W.L., S.W.S., L.R.O.) and Medicine (L.R.O.), University of Toronto, and the Program in Genetics and Genomic Biology, Hospital for Sick Children (E.-J.S., S.W.S.) — both in Toronto; the Unitat de Genètica, Departament Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona (M.C., L.A.P.-J.); and the Department of Pediatrics, University of Nevada School of Medicine, Las Vegas (C.A.M.).

Drs. Somerville and Mervis contributed equally to this article.

Address reprint requests to Dr. Osborne at the Department of Medicine, University of Toronto, 7238 Medical Sciences Bldg., 1 King's College Circle, Toronto, ON M5S 1A8, Canada, or at lucy.osborne{at}utoronto.ca.

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