1247例染色体异常患者的细胞遗传学分析

目的分析染色体异常核型的发生率,探讨常见染色体异常的临床意义。方法取18331例患者的外周血或脐血淋巴细胞进行常规培养、制片、烘烤、胰酶消化和染色。每例标本观察20个核型,分析3～5个核型。如果遇到嵌合体,观察100例。结果18275例完成核型分析的检查者中,染色体异常1247例,异常检出率6.82。其中常染色体异常978例;占异常核型的78.43%,性染色体异常269例;占21.57%。染色体病主要发生于发育异常、不良孕产史、不孕不育、原发和继发性闭经。结论染色体异常是导致发育异常、不良孕产史等疾病的重要原因之一,进行染色体检查,可为临床诊断和治疗提供科学依据。

Cytogenetic analysis on 1247 abnormal chromosome patients

Objective ： To study the rate of abnormal karyotypes and explore clinical significance of chromosome abnormal karyotypes. Methods： 18 331 patients were selected in the study, Peripheral blood or cord blood lyphocytes chromosome samples of each patient were collected, according to routine method, after the procedures of incubation, preparation, baking, pancreatin digestion and Giemsa staining. For each case, 3 - 5 karyotypes out of 20 observed cells were analysized under microscope. When mosaic karyotypes were observed, 100 karyotypes were observed. Results： A total of 18 275 patients were karyotyped, 1247 cases of abnormal karyotype were detected, the detection rate was 6.82%. Among 1247 abnormal karyotypes, 978 cases were euchromosome abnormalities, 269 cases were sex chromosome abnormalities, the rates of euchromosome abnormalities and sex chromosome abnormalities were 78.43%, 21.57% respectively. Clinical presentation of diseases include abnormality of development, history of abnormal pregnancy, sterility, primary and secondary amenorrhea. Conclusion： Chromosome abnormalities is a considerable reason for abnormality of development, history of abnormal pregnancy. Cytogenetics detection can provide scientific basis for clinical diagnosis and treatment