2160例不孕不育及发育异常患者R显带染色体核型分析

Reverse-banding Karyotype Analysis of 2 160 Patients with Infertility and Physical Deformities

目的通过研究染色体核型异常及其比例和临床表现的关系,探讨不孕不育及发育异常患者染色体异常机制及治疗方法的选择。方法对2011年至2013年于中国医科大学附属第一医院门诊就诊的2 160例不孕不育患者及发育异常患者进行染色体R显带核型及临床分析。结果 2 160例不孕不育患者及发育异常患者中456例存在染色体异常,其中常染色体异常134例,占29.39%;性染色体异常322例,占70.61%。结论染色体异常是导致男女不孕不育及发育异常的重要因素之一,患者应积极进行遗传优生和产前诊断,以指导临床治疗。

Objective To study the correlation between karyotypic abnormalities and their proportion and clinical manifestations of infertility and physical deformities in patients with chromosomal ＇abnormalities, so as to explore the pathogenic mechanisms and develop treatment options. Meth- ods Km）,otype and clinical analysis was performed on 2 160 patients admitted in the First Hospital of China Medical University during year 2011 to 20t3. Results Totally 456 eases were chromosomal abnormalities, in which there were 134 cases of normal chromosomal abnormalities with a per- centage at 29.39%. There were 322 sexual chromosomal abnormalities, accounting for 70.61%. Conclusion Chromosomal abnormalities play an important role in male and female infertihty and abnormal physical development. The prenatal diagnosis and chromosomes examinations should guide the clinical treatment in order to reduce patients＇ pain.