Rezayat Amir Akhavan, Nazarabadi Mohammad Hassanzadeh, Andalibi Mohammad Sobhan Sheikh, Ardabili Hossein Mohaddes, Shokri Maryam, Mirzaie Salmeh, Jarahi Lida
Student Research Committee, Faculty of Medicine, Mashhad, Iran.
Medical Genetics, Faculty of Medicine, Mashhad, Iran.
J Res Med Sci. 2013 Nov;18(11):995-7.
Among the genetics disorders, Down syndrome (DS) is the major cause of mental retardation, congenital heart and intestinal disease. So far, no certain therapeutic method has been suggested for the treatment of this syndrome. The aim of the current survey was to investigate the frequency of parental consanguinity, maternal age in the patients with DS.
This study was conducted on 38 consecutive patients with clinically and laboratory confirmed DS who referred to the genetic lab of a referral University Hospital. The G-banding method for karyotyping was employed.
The patients were 21 males and 17 females within the age of 16 days to 28 years old. Free trisomy (92.1%, n = 35) was the most common chromosomal abnormality. The frequency of DS was higher among the non-consanguine marriages (71.1%) in comparison with the consanguine marriages (28.9%). Mean age of the mothers in the consanguine marriages (mean = 27.1 ± 6.3) was lower than in the non-consanguine marriages (mean = 31.1 ± 7.7).
Higher frequency of DS among the non-consanguine marriages in comparison with the consanguine marriages, may suggest that DS diagnostic tests might be done on all embryos regardless of the parents' familial relationship.
在遗传性疾病中，唐氏综合征（DS）是智力发育迟缓、先天性心脏病和肠道疾病的主要病因。迄今为止，尚未提出针对该综合征的确定性治疗方法。本研究的目的是调查唐氏综合征患者中父母近亲结婚的频率及母亲的年龄。
本研究对连续38例临床和实验室确诊为唐氏综合征的患者进行，这些患者转诊至一所转诊大学医院的遗传实验室。采用G显带法进行染色体核型分析。
患者年龄在16天至28岁之间，其中男性21例，女性17例。游离三体（92.1%，n = 35）是最常见的染色体异常。与近亲结婚相比，非近亲结婚中唐氏综合征的发生率更高（71.1%对28.9%）。近亲结婚中母亲的平均年龄（平均 = 27.1 ± 6.3）低于非近亲结婚（平均 = 31.1 ± 7.7）。
与近亲结婚相比，非近亲结婚中唐氏综合征的发生率更高，这可能表明无论父母的家族关系如何，都应对所有胚胎进行唐氏综合征诊断检测。
