Low-level X chromosome mosaicism in women with sporadic premature ovarian failure
Geršak, Ksenija ; Veble, Alenka, 1958-
Low-level X chromosome mosaicism and its clinical relevance are still under debate. It could be interpreted as a technical artefact, genuine mosaicism or as being age-related. This study evaluated ...the contribution of X chromosome mosaicism in phenotypically normal women with sporadic premature ovarian failure (POF). During 1999-2008, 114 patients with POF and 64 age matched controls were karyotyped. Thirteen patients (11.4%) had true X chromosome mosaicism (>10% of aneuploid cells) and 12 had (10.5%) low-level X-mosaicism (between 6-10% of aneuploid cells). The mean age of women with true and low-level mosaicism was 26.0+/-5.65 years and 35.92+/-3.87 years, respectively(P<0.001). In the control group the incidence of cells with an abnormal number of X chromosomes was 1-3%. The results have practical implications for genetic counselling and fertility treatment. To search and confirm the low-level mosaicism, a higher number of metaphases should be analysed or additional fluorescence in-situ hybridization analysis must be performed. Although peripheral blood does not reflect the situation in ovariantissue well, it is presumed that there are different aetiological causes for true and low-level X chromosome mosaicism. The possible causes and reproductive significance of low-level X chromosome mosaicism are discussed. Xchromosome abnormalities are usually associated with abnormal sexual development and reproductive performance, such as amenorrhoea, infertility, recurrent abortions and premature ovarian failure. X chromosome mosaicism is the presence of two populations of cells in the body. Some cells have two X chromosomes while others have only one X chromosome. Low-level X chromosome mosaicism (less than 10% of cells have one X chromosome) and its clinical relevance are still under debate. It could be interpreted as a technical artefact, genuine mosaicism or as being age-related. (Abs. trunc. at 2000 ch.)
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