Cytogenetic abnormalities in Tunisian women with premature ovarian failure

Abstract : 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.
Type de document :
Article dans une revue
Comptes Rendus Biologies, Elsevier Masson, 2014, 337 (12), pp.691-694. 〈10.1016/j.crvi.2014.09.003〉
Liste complète des métadonnées

https://hal-riip.archives-ouvertes.fr/pasteur-01375057
Contributeur : Institut Pasteur Tunis <>
Soumis le : dimanche 2 octobre 2016 - 20:02:56
Dernière modification le : vendredi 24 novembre 2017 - 15:16:03

Identifiants

Collections

Citation

Wiem Ayed, Ahlem Amouri, Wajih Hammami, Olfa Kilani, Zinet Turki, et al.. Cytogenetic abnormalities in Tunisian women with premature ovarian failure. Comptes Rendus Biologies, Elsevier Masson, 2014, 337 (12), pp.691-694. 〈10.1016/j.crvi.2014.09.003〉. 〈pasteur-01375057〉

Partager

Métriques

Consultations de la notice

17