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

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

doi:10.1136/jmg.29.10.747

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

J Med Genet. 1992 Oct;29(10):747-9. doi: 10.1136/jmg.29.10.747.

Authors

L Telvi¹, J M Pinard, R Ion, P M Sinet, A Nicole, J Feingold, O Dulac, A Pompidou, G Ponsot

Affiliation

¹ Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, Paris, France.

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.

Publication types

Case Reports

MeSH terms

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