The detection of Y chromosome mosaic in patients with Turner syndrome is the signal of an increased risk of gonadoblastoma origin and the reason to perform preventive gonadectomy. The possilibities to disclose such a mosaic were limited until recently by the sensitivity of cytogenetic methods. Polymerase chain reaction (PCR) enables detection of even extremely low concentration of cells containing Y chromosome with great accuracy and makes possible the precise determination of even very small parts of the Y chromosome, a which was detected as the place, where the gene or genes responsible for gonadoblastoma origin are located. The risk of gonadosblastoma origin in patinets with Turner syndrome and verified centrometric fragment of Y chromosome is estimated to be about 30%. It is therefore desirable to investigate each patient with this syndrome with respect to presence of Y mosaic by PCR and to detect the persons suitable for dispensarisation and to preventive removal of rudimentary gonads.
Risk of gonadoblastoma origin in patients with Turner syndrome and with chromosomal mosaic
