CYP21A2 and congenital adrenal hyperplasia: Here we describe a full term neonate with genital ambiguity, CAH resulting from compound heterozygous mutations in the CYP21A2 gene, a mosaic 45,X/46,XY karyotype, a jumping chromosome Y translocation to nonacrocentric chromosomes, and a bilateral mosaic 45,X/46,XY gonadal karyotype exhibiting the same chromosome Y translocation.