Infrequent structural chromosome aberrations in women with primary amenorrhea

Since the problem of primary amenorrhoea (PA) is very real the authors reviewed a series of 58 women from their own laboratory, citing all known causes of PA and emphasizing that the most interesting cases are those with normal karyotype. Reinvestigation of patients with normal karyotype using the banding methods (G and R) revealed new types of structural aberrations of X chromosome. The importance of structural disturbances and rearrangements of particular segments of X chromosome in the etiology of PA has been discussed.