title: 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.
authors.affiliation: Laboratory of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis, Tunisia; Faculté de médecine de Tunis, Université El-Manar, 15, rue Djebel-Lakhdhar, La Rabta, 1007 Tunis, Tunisia.
authors.forename: Wiem
authors.initials: W
authors.lastname: Ayed
authors.affiliation: Laboratory of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis, Tunisia; Faculté de médecine de Tunis, Université El-Manar, 15, rue Djebel-Lakhdhar, La Rabta, 1007 Tunis, Tunisia. Electronic address: amouri.ahlem@pasteur.rns.tn.
authors.forename: Ahlem
authors.initials: A
authors.lastname: Amouri
authors.affiliation: Laboratory of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis, Tunisia; Faculté de médecine de Tunis, Université El-Manar, 15, rue Djebel-Lakhdhar, La Rabta, 1007 Tunis, Tunisia.
authors.forename: Wajih
authors.initials: W
authors.lastname: Hammami
authors.affiliation: Laboratory of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis, Tunisia; Faculté de médecine de Tunis, Université El-Manar, 15, rue Djebel-Lakhdhar, La Rabta, 1007 Tunis, Tunisia.
authors.forename: Olfa
authors.initials: O
authors.lastname: Kilani
authors.affiliation: Endocrinology Department, La Rabta Hospital and Al Manar University Tunis, rue Djebel-Lakhdhar, 1007 Tunis, Tunisia.
authors.forename: Zinet
authors.initials: Z
authors.lastname: Turki
authors.affiliation: Hôpital régional Mahmoud El Matri, rue Ibnou-Khaldoun, Ariana, Tunisia.
authors.forename: Fatma
authors.initials: F
authors.lastname: Harzallah
authors.affiliation: Département d'histologie embryologie, faculté de médicine de Sfax, boulevard Majida-Boulila, 3029 Sfax, Tunisia.
authors.forename: Nouha
authors.initials: N
authors.lastname: Bouayed-Abdelmoula
authors.affiliation: Laboratory of Histology and Cytogenetics, Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Chemkhi
authors.affiliation: Department of Obstetrics and Gynecology, Aziza Othmana University Hospital, place du Gouvernement, La Kasba, 1008 Tunis, Tunisia.
authors.forename: Fethi
authors.initials: F
authors.lastname: Zhioua
authors.affiliation: Endocrinology Department, La Rabta Hospital and Al Manar University Tunis, rue Djebel-Lakhdhar, 1007 Tunis, Tunisia.
authors.forename: Claude Ben
authors.initials: CB
authors.lastname: Slama
mesh_terms: D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D041321:Chromosomes, Human, X / Q000235:genetics; D003582:Cytogenetics / Q000379:methods; D005260:Female; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D007621:Karyotyping; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D014416:Tunisia; D055815:Young Adult
chemical_list: D012739:Gonadal Steroid Hormones
keywords: Amenorrhoea; Aménorrhée; Anomalies chromosomiques; Caryotype; Chromosome X; Insuffisance ovarienne prématurée; Karyotype; Premature ovarian failure; X Chromosome abnormalities