Analysis of X chromosome mosaicism in patients with premature ovarian failure by fluorescent in-situ hybridization / 中华妇产科杂志

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 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.