Article
Sex reversal due to Xp disomy by t(X;Y)(p21;q11).
Genetic counseling (Geneva, Switzerland) - 1 Jan 1999
Vasquez A I, Rivera H, Mayorquin A, Mejia-Baltodano G, Escalante A, Sanchez-Corona J
Abstract excerpt
A 20-month-old infant exhibiting psychomotor retardation, dysmorphisms and ambiguous external genitalia was found to have a 46-chromosome karyotype including a normal X chromosome and a marker Y with most of Yq being replaced by an extra Xp21-->pter segment. The paternal karyotype (G and C bands) was 46,XY. The marker Y composition was verified by means of FISH with a chromosome X painting, an alphoid repeat and...
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