南宁地区唐氏综合征患者的细胞遗传学研究

为了探讨中国南宁地区唐氏综合征患者染色体核型分布及其特点, 对广西壮族自治区妇幼保健院1994年以来的500例疑似唐氏综合征(Down syndrome, DS)患者进行外周血染色体核型分析, 130例确诊为DS患者。其中, 单纯型21-三体为86.15%(112/130); 易位型为8.46%(11/130); 嵌合型为5.39%(7/130)。在单纯型21-三体中性别比为女∶男=1∶1.8; 93.08% 的唐氏综合征患儿由年轻母亲(<35岁)所生, 另有6.92% 由高龄产妇所生。结果表明, 南宁地区86% 以上唐氏综合征患者的染色体核型是单纯型21-三体, 男性唐氏综合征患儿明显高于女性患儿。

Cytogenetic study of Down syndrome cases in Nanning, China

To investigate the distribution and the characteristics of karyotypes in Down syndrome patients in Nanning city, China, Cytogenetic analysis was carried out in 500 cases clinically suspected for Down syndrome during 1994 to 2007. One hundred and thirty cases were diagnosed as Down syndrome in the panel of patients with karyotyping analysis. The preva-lence distribution of chromosome abnormalities in Chinese Down syndrome patients in Nanning were 86.15% (112/130) cases with typical trisomy 21, 8.46% (11/130) cases with translocation, and 5.39% (7/130) cases with mosaic abnormal karyotype. The cases with trisomy 21 were approximately as twice as higher (1.8:1)in male than that in female patients. The percentage (93.08%) of Down syndrome babies born by younger mothers (<35 yr) was greater than that (6.92%) of the babies born by elder mothers (>35 yr). We concluded that males were more pronounced to be affected than females in Down syndrome cases in Nanning. Down syndrome cases with typical trisomy 21 karyotype were higher in Nanning than those with translocation or mosaic karotypes.