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Monosomy × or 45, X is a cytogenetic characteristic for Turner syndrome.This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found.Among these cases, 21 out of 95 (22.1%) have Y or part of Y as the second or third sex chromosome in their additional cell lines.Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46, XX or 46, XY karyotypes, but by FISH, additional monosomy × cell line was found.

In our study we did not perform further analysis for non mosaic monosomy × detected by 20 metaphase cells conventional cytogenetic analysis, based on the opinion that extensive searching for 46, XX cells in 45, X karyotype individuals is not necessary, since the detection of a normal cell lineages in fewer than 5 percent of cells does not change the prognosis and management [].

Furthermore, another advantage of FISH is the ability to provide cytogenetic analysis for large cell populations.