Objective: To investigate whether low-level 45, X/46, XX mosaicism presents in women with premature ovarian failure (POF) and the sensitivity and specificity of fluorescent in-situ hybridization (FISH) for detecting X chromosome mosaicism.
Methods: Karyotypes of peripheral lymphocyte in 18 patients with POF and 9 normal controls were analyzed and the orange signals during FISH using X chromosome enumeration probes (CEPX) were counted.
Results: Single signals of X chromosome (45, X) were found in 7.6% of the total counted cells, which was significantly greater than that in the controls, in spite of the normal 46, XX karyotypes by routine analyses in all POF patients.
Conclusions: This study indicated that some POF patients may attribute to low-level 45, X/46, XX mosaicism. FISH is more sensitive than the routine chromosome analyses in detecting low-level X chromosome monosomy.