Familial Williams Syndrome |
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Authors: | X. Cortada K. Taysi A. F. Hartmann |
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Affiliation: | Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Divisions of Medical Genetics;Cardiology, St. Louis Children's Hospital, St. Louis, Missouri, U.S.A. |
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Abstract: | Characteristic features of the Williams syndrome were observed in a mother and her presumably dizygotic twin daughters, suggesting either an X-linked dominant, autosomal dominant or multifactorial inheritance in this pedigree. The Williams syndrome generally has been thought to have a sporadic occurrence. The rare familial occurrence, however, suggests a possible heterogeneity in its etiology and also points out the importance of careful examination of the other family members for proper genetic counseling. |
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Keywords: | Affected mother and twin daughters direct transmission familial Williams syndrome. |
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