19 research outputs found
The estimation of red cell superoxide dismutase activity by pulse radiolysis in normal and trisomic 21 subjects
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
