Two patients with complete hydatidiform mole with 46,XY karyotype.
In a study to correlate the genetic origin of hydatidiform moles with the subsequent fate of the patients, 62 complete moles were examined for cytogenetic and/or biochemical polymorphisms. Comparisons of polymorphisms in molar tissue with those seen in white blood cells from the parents have shown that the majority of complete hydatidiform moles are androgenetic in origin and homozygous for all polymorphisms examined. Where karyotyped, these moles were found to be 46,XX. Three exceptions were found in which the molar tissue was heterozygous for enzyme polymorphisms. Cytogenetic analysis of two of these cases confirmed heterozygosity and also revealed a 46,XY karyotype which was androgenetic in origin, most likely arising by dispermy. The two patients with 46,XY complete moles have been followed up for a minimum of 9 months and neither has required treatment for persistent trophoblastic disease.
D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D007621:Karyotyping; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012730:Sex Chromosomes; D014594:Uterine Neoplasms / Q000235:genetics*