De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
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.
Telvi
L
L
Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, Paris, France.
Pinard
J M
JM
Ion
R
R
Sinet
P M
PM
Nicole
A
A
Feingold
J
J
Dulac
O
O
Pompidou
A
A
Ponsot
G
G
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