[Presence of Y-specific sequences in patients with Turner syndrome as a presymptomatic marker of increased risk of gonadoblastoma].

The risk of the origin of neoplasms in patients with gonadal dysgenesis and the presence of Y chromosome mosaicism has been known for a long period. The majority of hidden mosaicism is however not detectable by means of cytogenetic methods. The authors of this study deal with the detection of Y specific chromosomal sequences in 86 patients with Turner syndrome by means of polymerase chain reaction (PCR) and compare the results of this method with cytogenetic findings. The presence of Y specific sequences was proven in 8 patients (9.3%) which correlates with the results of several recent studies. In two cases, the Y chromosome fragment was verified also cytogenetically, in five patients, the diagnose was made more accurate at an originally non-specified marker, and in two cases, the cytogenetic examination has assessed the finding of X chromosome only. PCR is a more sensitive and a more precise method of the assessment of Y chromosome mosaicism in patients with Turner syndrome enabling more effectively to single out persons under the risk of rudimentary gonads gonadoblastoma development. (Fig. 5, Ref. 32.)