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Case Reports
. 1992 Oct;29(10):747-9.
doi: 10.1136/jmg.29.10.747.

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome

L Telvi  1 , J M Pinard, R Ion, P M Sinet, A Nicole, J Feingold, O Dulac, A Pompidou, G Ponsot
Affiliations
Case Reports

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome

L Telvi et al. J Med Genet. 1992 Oct.

Abstract

We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed.

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