816例染色体检查结果的分析及临床意义

Chromosome Analysis of 816 Cases and the Clinical Significance

目的:观察分析染色体检查的临床意义及其重要性。方法:采用外周血培养及G带染色分析816例患者染色体核型异常的阳性率,统计不同就诊原因中染色体异常核型分布及临床意义。结果:816例染色体检查中,异常核型有44例,检出率为5.37%。其中与孕育疾病有关就诊的病例最多,占总检查人数的61.02%,染色体核型异常阳性率反而最低(4.61%)。由其他原因(体检,五官、皮肤和内科等疾病)就诊的占总检查人数的比率不高(9.07%),而染色体核型异常的阳性率最高(8.10%)。从各类不同就诊原因的病人中共发现3例国际首报异常核型。结论:染色体检查不仅妇产科和优生优育专业重要,同时临床各部门都要重视染色体的检查、应用和研究。

Objective： To observe the effect and the clinical significance of the chromosome analysis. Methods： The chromosomes of peripheral blood lymphocytes of 816 patients with all kinds of clinical symptoms had been analyzed by G-band. The distributions and clinical significance of their abnormal karyotypes were explored. Results： Forty-four cases were found different kinds of chromosomes abnormality in 816 patients. The positive rate was 5.37%. The number of the patients from gynaecology and obstetrics was the most, which proportion was 61.02 % in total trialed peo- ple. But the positive rate was the lowest, which proportion was 4.61%. The proportion of patients from pediatrics, surgery, dermatology and other departments were 9.07% and their positive rate was up to 8.10%. Three cases respectively from department of surgery, gynaecology and obstetrics and another department are the first reported abnormal karyotypes in the world among Chinese population. Conclusion. The analysis of the chromosome should not be limited in the field of department of gynaecology and obstetrics, and doctors should think highly of the application and study of the chromosome analysis in all clinical departments.