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Chromosomal Abnormalities in Patients with Intellectual Disability: A 21-Year Retrospective Study.
Human Heredity ( IF 1.8 ) Pub Date : 2019-05-08 , DOI: 10.1159/000499710
Boutaina Belkady 1, 2 , Lamiae Elkhattabi 1 , Zouhair Elkarhat 1 , Latifa Zarouf 3 , Lunda Razoki 3 , Jamila Aboulfaraj 3 , Sanaa Nassereddine 3 , Rachida Cadi 2 , Hassan Rouba 1 , Abdelhamid Barakat 4
Affiliation  

BACKGROUND Intellectual disability (ID) has been defined as a considerably reduced ability to understand new or complex information and to learn new skills. It is associated with life-long intellectual and adaptive functioning impairments that have a profound impact on individuals, families, and society. It affects about 3% of the general population. ID often comes out with other mental conditions like attention deficit, hyperactivity, and autism spectrum disorders (ASD), and it can be part of a malformation syndrome that affects other organs. It may be syndromic (S-ID) or non-syndromic (NS-ID). OBJECTIVE The aims of this study were to identify the profile of intellectually disable patients being referred for cytogenetic analysis in Morocco, to determine the prevalence of chromosomal abnormalities in a Moroccan group, and to compare the results with those of analogous studies from other countries. PARTICIPANTS We included data from Moroccan patients with NS-ID and others with S-ID (mostly Down syndrome cases) who have been referred between 1996 and 2016. 1,626 patients were involved in this study, 1,200 were referred with a clinical diagnosis of Down syndrome, 37 were clinically diagnosed for ASD with ID, and 389 were suspected of NS-ID. RESULTS We identified 1,200 cases of Down syndrome. In 1,096 analyses (91.3%), a cytogenetic variant of trisomy 21 was identified: standard trisomy 21 in 1,037 cases (94.6%), a translocation in 34 cases (3.10%), and mosaicism in 25 cases (2.3%). The cytogenetic analysis among ASD with ID cases did not reveal any specific chromosomal abnormalities. The present study also shows that chromosomal abnormalities were present in 6.43% of the patients with NS-ID (25 abnormal karyotypes out of 389 NS-ID cases). Autosomal structural abnormalities were the largest proportion of chromosomal aberrations. CONCLUSION The high rate of chromosomal abnormalities found in the Moroccan patients studied demonstrates the capital importance of cytogenetic evaluation in patients who show ID or any clinical development abnormality.

中文翻译:

智力障碍患者的染色体异常:一项为期21年的回顾性研究。

背景技术智力障碍(ID)已经被定义为理解新的或复杂的信息以及学习新技能的能力大大降低。它与终生的智力和适应性功能障碍有关,会对个人,家庭和社会产生深远影响。它影响了约3%的总人口。ID通常与其他精神状态(例如注意力不足,活动过度和自闭症谱系障碍(ASD))一起出现,并且可能是影响其他器官的畸形综合症的一部分。它可以是症状性(S-ID)或非症状性(NS-ID)。目的本研究的目的是确定摩洛哥有智力障碍的患者进行细胞遗传学分析的概况,以确定摩洛哥人群中染色体异常的患病率,并将结果与​​其他国家的类似研究进行比较。参与者我们纳入了1996年至2016年之间转诊的摩洛哥NS-ID患者和其他S-ID患者(主要为唐氏综合症患者)的数据。该研究涉及1,626例患者,其中1200例经临床诊断为唐氏综合症,有37位被临床诊断为具有ID的ASD,还有389位被怀疑患有NS-ID。结果我们确定了1200例唐氏综合症患者。在1,096次分析中(91.3%),确定了21三体性的细胞遗传学变异:1,037例中的21三体性标准(94.6%),34例中(3.10%)易位,25例中有马赛克(2.3%)。ASD合并ID病例的细胞遗传学分析未发现任何特定的染色体异常。本研究还表明,在6中存在染色体异常。43%的NS-ID患者(389例NS-ID患者中有25个异常核型)。常染色体结构异常是染色体畸变的最大部分。结论在所研究的摩洛哥患者中发现的染色体异常发生率很高,这表明在具有ID或任何临床发育异常的患者中进行细胞遗传学评估至关重要。
更新日期:2019-11-01
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