Paf

This mutation comprises an inversion of an X chromosome segment with breakpoints distal to Amel and proximal to the PAR marker DXYHgu1. The mutation in this allele is within a ~0.2 cM interval that includes the boundary of the pseudoautosomal region (PAR), a sequence common to the X and Y chromosomes. As a consequence X-Y nondisjunction occurs in hemizygous males, resulting in XO and XXY progeny. (J:10459, J:52077)