[Analysis of X chromosome mosaicism in patients with premature ovarian failure by fluorescent in-situ hybridization].
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.
Diao
Fei-yang
FY
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Xu
Min
M
Liu
Jia-yin
JY
D000328:Adult; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*