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

机译:大量非综合征性智力低下儿童的细胞遗传学分析

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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.
机译:智力低下会影响1-3%的人口。为了评估染色体异常在智力低下病因中的意义,我们使用标准的细胞遗传学技术对2005年1月至2009年12月在Farhat Hached医院(突尼斯苏斯)细胞遗传学部门招募的1420例非综合征性智力低下患者进行了分析。 。年龄在3至18岁之间,中位数为8岁。当智力低下与严重程度的智力残疾,面部畸形和/或先天性畸形或癫痫发作相关时,在7.8%的患者中检测到染色体异常,并且观察到染色体异常的患病率增加。

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