Cytogenetic analysis in a large series of children with non-syndromic mental retardation

Article type: Research Article

Authors: Ben Abdallah Bouhjar, Inesse^{; ;} | Gmidène, Abir | Mougou-Zrelli, Soumaya^; | Hannachi, Hanene^; | Soyah, Najla | Gadour, Naoufel | Harrabi, Imed | Elghezal, Hatem^; | Saad, Ali^;

Affiliations: Department of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia | Department of Pediatrics, Farhat Hached University Teaching Hospital, Sousse, Tunisia | Department of Psychiatric, Fatouma Bourguiba University Teaching Hospital, Monastir, Tunisia | Department of Epidemiology, Farhat Hached University Teaching Hospital, Sousse, Tunisia | Common Service Units for Research in Genetics, Faculty of Medicine, Sousse, Tunisia

Note: [] Corresponding author: Inesse Ben Abdallah Bouhjar, Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, 4000 Sousse, Tunisia. Tel./Fax: +216 73 219488; E-mail: [email protected].

Abstract: Mental retardation affects 1–3% of the population. To evaluate the implication of chromosomal abnormalities in the etiology of mental retardation, 1420 patients with non-syndromic mental retardation recruited at the department of cytogenetics of Farhat Hached hospital (Sousse, Tunisia) between January 2005 and December 2009, were analyzed using standard cytogenetic techniques. Age ranged between 3 and 18 years with a median of 8 years. Chromosomal abnormalities were detected in 7.8% of patients and an increased prevalence of chromosome anomalies was observed in patients when the mental retardation is associated with a severe degree of intellectual disability, facial dysmorphic features and/or congenital malformations or epilepsy.

Keywords: Chromosomal abnormalities, congenital malformations, epilepsy, facial dysmorphism, karyotype, mental retardation

DOI: 10.3233/PGE-2012-027

Journal: Journal of Pediatric Genetics, vol. 1, no. 3, pp. 175-180, 2012