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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >A study of new potential risk factors for Down syndrome in Upper Egypt
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A study of new potential risk factors for Down syndrome in Upper Egypt

机译：上埃及唐氏综合症的新潜在危险因素研究

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Down syndrome is a common chromosomal anomaly causing multiple congenital malformations and mental retardation (MR) in humans. The well-established risk factor, advanced maternal age, was not found in many of the Down syndrome cases in Egypt, while other possible risk factors have not been well studied yet. In view of this, we have conducted the present study to clarify that issue and throw some lights on other potential risk factors in Down syndrome. During this cross sectional study, conducted during the period between March 2006 and Feb 2008, 48 clinically suspected cases of Down syndrome aged between 6months and 9years were referred for chromosomal investigation (karyotyping) from the outpatient and inpatient sections of the pediatric department, University Hospitals at the Upper Egyptian governorate Sohag. Chromosomal study was done in those patients after obtaining an informed consent. Twenty apparently healthy children were randomly selected as controls. Statistical study was carried out using logistic regression analysis. Out of the 48 cases of Down syndrome, 45 had free trisomy 21, two were mosaic trisomy 21, and one had translocation. Logistic regression of case-control study of Down syndrome children revealed that the odds ratio of uncle–niece marriages, or second cousin marriages, or parents lived in rural region, or exposure of the parents to drugs or chemicals, or parents education status, or habits (cigarettes/coffee used) of father, or mother not undergone ante-natal scanning as a part of ante-natal care, or mothers with previous abortions were significant when all the variables of that category were used one at a time. Besides the known risk factors, consanguinity, region (rural/urban) of residence of parents, exposure of parents to chemicals, educational status of parents, habits of father, prenatal scanning, and reproductive performance of mother are possible risk factors for Down syndrome.
机译：唐氏综合症是常见的染色体异常，会导致人类发生多种先天性畸形和智力低下（MR）。在埃及的许多唐氏综合症病例中均未发现已确立的危险因素，即高龄产妇，而尚未对其他可能的危险因素进行深入研究。有鉴于此，我们进行了本研究以阐明该问题，并对唐氏综合症的其他潜在危险因素给予一些启示。在2006年3月至2008年2月期间进行的这项横断面研究中，从大学医院儿科门诊和住院科转诊了48例年龄在6个月至9岁之间的唐氏综合症临床可疑病例进行染色体检查（染色体分型）在上埃及省Sohag。在获得知情同意后，对这些患者进行了染色体研究。随机选择了二十个看似健康的儿童作为对照。使用逻辑回归分析进行统计研究。在唐氏综合症的48例病例中，有45例具有21三体性，2例为镶嵌三体性，其中1例易位。对唐氏综合症儿童进行的病例对照研究的逻辑回归表明，叔叔侄女婚姻，表弟婚姻，父母居住在农村地区，父母接触毒品或化学药品，父母的教育程度或父亲的习惯（使用香烟/咖啡），或作为产前护理的一部分未接受产前扫描的母亲，或曾经流产的母亲，一次使用该类别的所有变量时均具有重要意义。除了已知的危险因素外，血亲，父母居住的地区（农村/城市），父母接触化学药品，父母的教育程度，父亲的习性，产前检查和母亲的生殖能力也是唐氏综合症的危险因素。

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