title: De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
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.
authors.affiliation: Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Telvi
authors.forename: J M
authors.initials: JM
authors.lastname: Pinard
authors.forename: R
authors.initials: R
authors.lastname: Ion
authors.forename: P M
authors.initials: PM
authors.lastname: Sinet
authors.forename: A
authors.initials: A
authors.lastname: Nicole
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: O
authors.initials: O
authors.lastname: Dulac
authors.forename: A
authors.initials: A
authors.lastname: Pompidou
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D004303:Dosage Compensation, Genetic; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome