[Genetic studies of hydatidiform mole with 46,XY karyotype (author's transl)]

Complete hydatidiform moles are androgenetic in origin. The majority of them show a 46,XX karyotype, while some are 46,XY. Chromosome analysis of 75 complete moles revealed three (4.0%) to be so. The XY moles, the patients and their husbands were studied for various polymorphic markers, including chromosomal Q-banding heteromorphism, HLA antigen, phosphoglucomutase-1 and esterase D, in order to determine the origin of XY moles. In all of the three XY moles studied, some of the polymorphic markers were not inherited from the patients, but they were exclusively paternal. Thus, these moles were androgenetic in origin. They also showed both homozygous and heterozygous Q-banding patterns in their homozygous chromosome pairs. Therefore, they were of dispermic origin. In conclusion, XY moles are of dispermic origin.