484例遗传咨询者外周血染色体核型分析

Analysis on blood chromosomes karyotyping results in 484 genetic consultants

目的探讨484例遗传咨询者外周血染色体核型情况。方法外周血淋巴细胞培养、收获、制片及G显带,并行染色体核型分析。结果检出异常核型96例,异常核型检出率为19.83%,其中性染色体异常25例,占26.04%;常染色体异常71例,占73.96%。结论染色体异常是导致智力低下、不良孕产史、原(继)发闭经、无精症、性发育异常的重要原因之一。对疑是染色体病的遗传咨询者进行染色体检查,可为临床诊断和优生、优育提供依据。

Objective To study the blood chromosomes karyotyping in 484 genetic consultants.Methods To collect peripheral blood samples from 484 genetic consultants.Chromosome specimens were made using routine culture of peripheral blood lymphocytes.The G-band technique was used in the cytogenetical analysis.Results 96 cases of chromosome abnormalities（19.83%）were detected in 484 genetic consultants.There were 25 sex chtomosome abnormalities（26.04%） and 71 autosomal abnormalities（73.96%）.Conclusion Chromosome abnormality is a considerable reason for primary or secondary amenorrhea,spontaneous abortion and stillbirth history,mental and sexual development abnormity.Chromosomes detection is necessary for the genetic consultant.