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目的:探讨石家庄地区生育障碍者的染色体异常状况,了解不同疾病与异常核型间的关系。方法:收集石家庄地区生育障碍者的外周血淋巴细胞进行培养,制片,G显带,行染色体核型分析。结果:收集到的3 558例生殖障碍者中,共检出染色体核型异常327例,包括数目和结构异常166例,染色体多态161例,异常率为9.19%。其中1 347对(2 694例)不良孕产史夫妇的染色体异常检出率为6.27%,769例男性不育患者的染色体异常检出率为19.12%,95例闭经/性腺发育不良患者的染色体异常检出率为11.58%。结论:染色体异常是导致反复流产、生育畸形儿、原发闭经、性腺发育异常等生育障碍的重要原因之一,进行染色体检查有助于患者的临床诊断与治疗。
Objective: To investigate the chromosomal abnormalities of impaired children in Shijiazhuang and to understand the relationship between different diseases and abnormal karyotypes. Methods: Peripheral blood lymphocytes were collected from Shijiazhuang-Zhuang area for culture, preparation, G-banding and lineage karyotype analysis. Results: Of the 3 558 cases of reproductive disorders collected, 327 cases of chromosomal abnormalities were detected, including 166 cases of abnormal chromosome number and 161 cases of chromosomal abnormalities. The abnormality rate was 9.19%. Among them, the detection rate of chromosomal abnormalities in 1 347 pairs (2 694 cases) couples with unhealthy pregnancy history was 6.27%, the chromosomal abnormalities in 769 male infertility patients were 19.12%, 95 cases with amenorrhea / gonad dysplasia Abnormal detection rate was 11.58%. Conclusion: Chromosomal abnormalities are one of the most important causes of fertility disorders such as repeated miscarriage, deformity children, primary amenorrhea and abnormal gonadal dysplasia. Chromosome examination may be helpful for the clinical diagnosis and treatment of patients.