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Williams-Beuren syndrome (WBS) is a relatively rare but serious genetic disease; patients suffer from heart problems, unusual facial features, mental retardation, and slow growth. Scientists have now found tell-tale signs in the chromosomes of the parents of WBS patients, according to a study to be published in the upcoming issue of Nature Genetics. The results could lead to genetic tests to assist in the diagnosis of the disease, as well as in family planning.
More that 95 percent of WBS patients miss a large piece of one of their two copies of chromosome 7. Stephen Scherer and colleagues at the Hospital for Sick Children in Toronto, Canada, found that some parents of children with WBS have the same chromosome 7 region flipped around, rather than deleted. In about one-third of families, one parent had a chromosome 7 "inversion" (although the parent showed no symptoms of disease). Invariably, the chromosome with the inversion was the one that was passed down to the affected child and that ended up with the deletion. The scientists suggest that inheriting a chromosome with an inversion might predispose future generations to further genetic rearrangements. Author contact: Stephen W. Scherer
Hospital for Sick Children
Toronto, Ontario, Canada
Tel +1 416 813 7613
E-mail steve@genet.sickkids.on.ca (C) Nature Genetics press release.
Message posted by: Trevor M. D'Souza
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