Cytogenetic abnormalities in Tunisian women with premature ovarian failure. Anomalies chromosomiques et insuffisance ovarienne prématurée en Tunisie

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Ayed, Wiem | Amouri, Ahlem | Hammami, Wajih | Kilani, Olfa | Turki, Zinet | Harzallah, Fatma | Bouayed-Abdelmoula, Nouha | Chemkhi, Imen | Zhioua, Fethi | Slama, Claude Ben

Edité par CCSD ; Académie des sciences (Paris) -

International audience. To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF. (C) 2014 Academie des sciences. Published by Elsevier Masson SAS. All rights reserved.

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