摘要
目的:通过对性发育异常病人染色体异常的检出率进行分析,探讨染色体异常与性发育异常之间的关系。方法:通过常规外周血染色体制备法,对纳入研究的720例性发育异常病人进行染色体核型分析。结果:720例纳入研究对象中,共检出染色体异常者85例,总检出率为11.80%,其中染色体数目异常者56例(7.78%),染色体结构异常者19例(2.64%),性反转8例(1.15%)。结论:性发育异常病人染色体异常检出率显著增加,可以认为染色体异常是导致性发育异常的重要因素;应重视对性发育异常病人的细胞遗传学诊断,以有助于病因诊断及临床处理。
Objective：To analyze the detection rate of chromosome abnormality in patients with abnormal development,and to explore the relationship between chromosome abnormality and abnormal development. Methods： chromosome karyotype analysis was performed on 720 cases of sexual development abnormalities included in the study. Results：720cases were included in the study,85cases of chromosome abnormalities were detected, the total positive rate was 11. 80%, including 56 cases （7. 78%）, 19cases （ 2. 64%）, 8cases （ 1. 39%）. Conclusion：the detection rate of chromosome abnormality in the patients with abnormal development can be significantly increased, which can be considered as an important factor in the development of abnormal chromosome.
出处
《内蒙古医科大学学报》
2017年第1期1-5,共5页
Journal of Inner Mongolia Medical University
基金
内蒙古自治区自然基金(2010MS1103)
关键词
性发育异常
染色体异常
核型分析
developmental abnormality
chromosome abnormality
karyotype analysis
