Clinical and cytogenetic studies of patients with polycystic ovary disease

Chromosomal studies in patients with polycystic ovary disease have produced contradictory findings. Whereas some patients showed various sex-chromosome anomalies, the majority had a normal karyotype. However, banding techniques were not employed in any of those studies. This report presents the result of cytogenetic studies with the use of the trypsin-Giemsa banding technique in 15 patients with polycystic ovary disease. Ten patients had normal karyotypes. In five patients, pseudodiploidy with trisomy 14 was present in 2% to 4% of the cells analyzed. However, the missing chromosome in pseudodiploid cells was not always the same. The phenotype of these patients was normal, except for polycystic ovary disease. The finding of trisomy 14 in 2% to 4% of the cells in five of 15 patients (33%) with polycystic ovary disease is significant, since such an occurrence is extremely rare in the general population. The implication of this cytogenetic finding remains unclear.