Cytogenetic and clinical findings in mares with gonadal dysgenesis

Gonadal dysgenesis in the mare is associated with several different karyotypes, including sex chromosome aneuploidy (63,X; 63,X/64,XX; 63,X/64,XY or 65,XXX), the normal male complement (64,XY) and autosomal deletion (64,XX?del2q-). The 63,X is the most common karyotype found in gonadal dysgenesis. Aneuploid cases probably represent spontaneous chromosome non-disjunction during oogenesis, spermatogenesis or early embryonic development. Cases with XY or autosomal deletion may be inherited defects or of spontaneous origin.