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

Inesse Ben Abdallah Bouhjar; Abir Gmidène; Soumaya Mougou-Zrelli; Hanene Hannachi; Najla Soyah; Naoufel Gadour; Imed Harrabi; Hatem Elghezal; Ali Saad

doi:10.3233/PGE-2012-027

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2012; 01(03): 175-180
DOI: 10.3233/PGE-2012-027

Georg Thieme Verlag KG Stuttgart – New York

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

Inesse Ben Abdallah Bouhjar

^aDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia

^eCommon Service Units for Research in Genetics, Faculty of Medicine, Sousse, Tunisia

,

Abir Gmidène

^aDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia

,

Soumaya Mougou-Zrelli

^aDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia

^eCommon Service Units for Research in Genetics, Faculty of Medicine, Sousse, Tunisia

,

Hanene Hannachi

^aDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia

^eCommon Service Units for Research in Genetics, Faculty of Medicine, Sousse, Tunisia

,

Najla Soyah

^bDepartment of Pediatrics, Farhat Hached University Teaching Hospital, Sousse, Tunisia

,

Naoufel Gadour

^cDepartment of Psychiatric, Fatouma Bourguiba University Teaching Hospital, Monastir, Tunisia

,

Imed Harrabi

^dDepartment of Epidemiology, Farhat Hached University Teaching Hospital, Sousse, Tunisia

,

Hatem Elghezal

^aDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia

^eCommon Service Units for Research in Genetics, Faculty of Medicine, Sousse, Tunisia

,

Ali Saad

^aDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia

^eCommon Service Units for Research in Genetics, Faculty of Medicine, Sousse, Tunisia

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Abstract

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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

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