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目的用细胞遗传学方法诊断Turner综合征患者,为优生优育提供科学依据。方法采用外周血淋巴细胞培养,G显带技术染色体核型分析。结果 44例患者被确诊为Turner综合征,其中纯合型占52%,嵌合型占48%。结论 Turner综合征是临床不孕不育的常见病因,无有效的治疗方法,细胞遗传学方法可以明确诊断,可以为临床诊疗提供有效的依据,是防止本病的有效手段。
Objective To diagnose Turner’s syndrome patients by cytogenetics and provide scientific basis for prenatal and postnatal care. Methods Peripheral blood lymphocytes were cultured and analyzed by G - banding technique. Results Forty four patients were diagnosed as Turner syndrome, of which 52% were homozygous and 48% were chimeric. Conclusion Turner syndrome is a common cause of infertility in clinic. Without effective treatment, cytogenetics can confirm the diagnosis and provide an effective basis for clinical diagnosis and treatment. It is an effective way to prevent this disease.