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Article

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

Journal of medical genetics - 1 Oct 1992

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

Abstract excerpt

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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Source

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Identifiers

PMID: 1433240
DOI: 10.1136/jmg.29.10.747
PMCID: PMC1016139

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Source receipt: pubmed, retrieved 7 Sept 2026.

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