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

被引:1
|
作者
Bouhjar, Inesse Ben Abdallah [1 ,5 ]
Gmidene, Abir [1 ]
Mougou-Zrelli, Soumaya [1 ,5 ]
Hannachi, Hanene [1 ,5 ]
Soyah, Najla [2 ]
Gadour, Naoufel [3 ]
Harrabi, Imed [4 ]
Elghezal, Hatem [1 ,5 ]
Saad, Ali [1 ,5 ]
机构
[1] Farhat Hached Univ, Teaching Hosp, Dept Cytogenet & Reprod Biol, Sousse, Tunisia
[2] Farhat Hached Univ, Teaching Hosp, Dept Pediat, Sousse, Tunisia
[3] Fatouma Bourguiba Univ, Teaching Hosp, Dept Psychiat, Monastir, Tunisia
[4] Farhat Hached Univ, Teaching Hosp, Dept Epidemiol, Sousse, Tunisia
[5] Fac Med, Common Serv Units Res Genet, Sousse, Tunisia
关键词
Chromosomal abnormalities; congenital malformations; epilepsy; facial dysmorphism; karyotype; mental retardation;
D O I
10.3233/PGE-2012-027
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:175 / 180
页数:6
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