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．

R394

 收稿日期: 2016－01－11; 修回日期: 2016－12－08
基金项目: 内蒙古自治区自然基金( 2010MS1103)
作者简介: 武艾宁( 1975－) ，女，内蒙古医科大学附属医院产科主治医师。
通讯作者: 赵晓曦，主任医师，E－mail: zhaoxxi@ 163．com 内蒙古医科大学附属医院， 010050