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

doi:10.1136/jmg.29.10.747

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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 synd...

Topics

Abnormalities, Multiple
Child, Preschool
Chromosomes, Human, Pair 21
Dosage Compensation, Genetic
Face
Female
Humans
Intellectual Disability
Phenotype
Syndrome
Translocation, Genetic
X Chromosome

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