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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。
Objective To analyze the incidence of chromosomal abnormal karyotypes and to explore the clinical significance of common chromosomal abnormalities. Methods 18331 patients with peripheral blood or cord blood lymphocytes were routinely cultured, prepared, baked, trypsin digestion and staining. Each sample observed 20 karyotypes and analyzed 3 to 5 karyotypes. If you encounter chimeras, observed 100 cases. Results 18,275 cases completed the karyotype analysis of the examiner, 1247 cases of chromosomal abnormalities, anomaly detection rate of 6.82. Among them, 978 were autosomal abnormalities, 78.43% were abnormal karyotypes, 269 were sex chromosome abnormalities, accounting for 21.57%. Chromosomal disease occurs mainly in dysplasia, poor history of pregnancy, infertility, primary and secondary amenorrhea. Conclusion Chromosomal abnormalities are one of the important causes of dysplasia and adverse pregnancy history. Chromosome examination may provide a scientific basis for clinical diagnosis and treatment.