PDF(Pubmed)
Abstract：
Williams-Beuren syndrome is a rare genetic disease (1/20 000) characterized by a microdeletion at 7q11.23 encompassing about 28 genes, including the elastin gene, ELN. It is a sporadic disease in the majority of cases. Easily identifiable in childhood, this developmental disorder associates suggestive face dysmorphism, cardiac defect, psychomotor retardation and specific behavioural and cognitive profile. We conducted a retrospective study of 11 patients with Williams-Beuren syndrome whose data were collected in the Genetics Department of the Mohammed VI University Hospital of Marrakech. The average age of patients was 6.05 years (SD=6.56; interquartile range=5), with a female predominance (64%; 7/11 patients). Almost all patients were mentally retarded and the diagnosis was confirmed in 100% (11) of patients using fluorescence in situ hybridisation (FISH).
摘要：
Williams-Beuren综合征是一种罕见的遗传性疾病（1/20000），其特征是7q11.23处的微缺失，包含约28个基因，包括弹性蛋白基因,ELN.在大多数情况下，它是一种散发性疾病。在童年很容易辨认，这种发育障碍与暗示性面部畸形有关，心脏缺陷,精神运动迟缓和特定的行为和认知特征。我们对11例Williams-Beuren综合征患者进行了回顾性研究，这些患者的数据是在马拉喀什穆罕默德六世大学医院的遗传学部门收集的。患者的平均年龄为6.05岁（SD=6.56；四分位距=5），以女性为主（64％；7/11患者）。几乎所有患者都患有智障，并且使用荧光原位杂交（FISH）在100％（11）的患者中得到了诊断。
