东莞地区317例遗传咨询者的外周血染色体分析

目的通过对317例遗传咨询患者的外周血染色体核型分析,探讨染色体异常与智力低下、不孕不育、原发闭经、反复流产等的关系。方法常规外周血淋巴细胞培养制备染色体标本,进行G显带染色体核型分析。结果 317例遗传咨询者中染色体异常62例,异常率19.55%;其中常染色体异常25例,占40.32%（25/62）,性染色体异常13例,占20.97%（13/62）,染色体多态变异24例,占38.71%。结论染色体异常是导致智力低下、不良孕产史、原发闭经、无（少）精子症的重要原因之一。

The chromosome analysis of 317 cases genetic counselors in Dongguan

Objective: To investigate the relationship between chromosome abnormalities and different types of diseases(Mental retardation,Infertility,Primary amenorrhea or Azoospermia).Methods: 317 cases of patients collected from genetic counselor of Dongguan Kanghua Hospital were detected by lymphocyte chromosome G-banding method in peripheral blood.Results:The results show that 62 out of 317 cases had karyotype aberration(19.55%),Among 25 cases(40.32%) are autosomal abnormalities,13 cases(20.97%) are sex chromosomal abnormality,24 cases(38.71%) are chromosomal polymorphism.Conclution:Chromosome abnormalities are the important factors leading to mental retardation,abnormal gestation and birth,sexual development abnormity and idopathic azoospermiam.