Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3)

Abstract

The karyotype 46,XY, dup(1) (p22.3p32.3) was found in a 10-year-old patient with sex reversal, mental retardation and multiple dysmorphic features. In other cases with duplication 1p but different breakpoints cryptorchidism and genital ambiguity have been observed suggesting the dosage effect of a locus in 1p involved in sex differentiation.