罕见外周血中单个染色体畸变临床特征及遗传学分析

Clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood

目的 :探讨外周血中单个染色体畸变的主要临床特征及其遗传学分析。方法 :采用外周血常规培养法 ,培养 72h后收获制片。G式显带 ,读片及染色体核型分析 ,以每 30 ,6 0 ,2 0 0个分裂相中找到 1～ 2个异常染色体核型作为单个染色体畸变的诊断标准。结果 :5 2例外周血单个染色体畸变的临床主要特征包括①自然流产 ;②性发育异常 ;③生育疾患 ;④病残者。结论 :外周血中的单个染色体畸变应归属染色体疾患的范畴。这种染色体的个体生育后代时应做产前诊断。

Objective To investigate the main clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood.Methods Peripheral blood cells were cultured for 72 hours with routine method and slids performed,and then the slide was read and mode analysis was carried out.The diagnostic standard of rare chromosomal aberation was:1～2 abnormal kary types were found in every 30,60,200 mitotic phass.Results The main clinical characterisitics of 52 cases of individual chromosomal aberation in peripheral blood included:①spontaneous abortion;②abnormal sex development;③reproduction diseases;and ④ morbid and deformity.Conclusion Rare chromosomal aberation should be regarded as chromosomal diseases.Prenatal diagnosis is necessary for people with such chromosomal aberation in their reproductive actions.