南宁地区307例唐氏综合征患者的染色体核型分析

Cytogenetic analysis of 307 cases with Down syndrome in Nanning

目的探讨南宁地区唐氏综合征患者的染色体核型及病因。方法采用细胞培养及G显带的方法,对南宁地区疑似唐氏综合征的患者进行外周血核型分析。结果 307例确诊的唐氏综合征患者中,标准型为285例(92.83%),易位型为19列(6.19%),嵌合型为3例(0.98%)。结论 21号染色体异常是导致生长发育迟缓、智力低下、多发畸形、不良孕史的重要原因。

Objective： To analyze the chromosomal karyotypes of 307 cases with Down syndrome in Nanning city.Methods： Detected chromosomal karyotypes of the patients clinically suspected for Down syndrome by culturing peripheral blood lymphocytes,using G-banding.Results： 307 cases were diagnosed as Down syndrome,including 285 cases of standard type（92.83%）,and 19 cases of translocation type（6.19%）,3 cases of mosasic type（0.98%）.Conclusion： The chromosome 21 abnormality is an important factor in causing growth retardation,mental retardation,multiple malformations and reproductive abnormality.