Cellular And Molecular Mechanisms Of Ovulation Disorders

[Abstract] 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. The number of orange signals during FISH using X chromosome enumeration probes (Vysis) were counted. According to criteria, the 46,XX nucleus would present two orange signals, but the 45,X nuleus only present one orange signal. Results The average ratio of 45,X/46,XX were 7.6% in POF patients, which was significantly greater than 2.2% 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 .