论文部分内容阅读
目的探讨X染色体异常的临床特征并分析其产生的可能原因。方法对5268例生殖异常患者通过取外周血淋巴细胞培养,显带进行染色体核型分析。结果检出X染色体异常79例,占被检患者的1.49%。其中X染色体数目异常64例,占异常核型81.0%。X染色体数目异常嵌合体7例,占异常核型8.9%。X染色体结构异常5例,占异常核型的6.3%。X染色体结构异常及嵌合体3例,占异常核型的3.8%。结论 X染色体异常可导致性发育异常或生殖异常等遗传效应,在遗传咨询中应引起足够的重视,对临床诊治工作有重要意义。
Objective To investigate the clinical features of X chromosome abnormalities and analyze the possible causes. Methods 5268 cases of genital abnormalities by peripheral blood lymphocytes cultured, banding chromosome karyotype analysis. Results X chromosome abnormalities were detected in 79 cases, accounting for 1.49% of the patients were seized. The number of X chromosome abnormalities in 64 cases, accounting for 81.0% of abnormal karyotype. There were 7 cases with abnormal X chromosome number, accounting for 8.9% of abnormal karyotype. X chromosome abnormalities in 5 cases, accounting for 6.3% of abnormal karyotype. X chromosome abnormalities and chimerism in 3 cases, accounting for 3.8% of abnormal karyotype. Conclusion X chromosome abnormalities can lead to genetic abnormalities such as sexual dysplasia or reproductive abnormalities, genetic counseling should be given enough attention, clinical diagnosis and treatment work of great significance.