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目的分析本室遗传咨询门诊及不孕专科门诊中原发闭经和继发闭经患者中的染色体异常,并探讨其临床意义,为其治疗提供指导。方法按常规方法制备患者外周血淋巴细胞染色体,进行核型分析。结果在346例病人中共检出染色体异常79例,异常检出率为22.8%,主要涉及X染色体的数目和结构异常。结论染色体异常是导致原发和继发闭经的重要原因之一,结合临床体征和染色体检查,可为闭经患者寻找病因提供依据。
Objective To analyze the chromosomal abnormalities in patients with primary amenorrhea and secondary amenorrhea during genetic counseling clinic and infertility specialist clinic, and to explore the clinical significance and provide guidance for their treatment. Methods Chromosomes of peripheral blood lymphocytes were prepared by routine methods and analyzed for karyotype. Results A total of 79 chromosomal abnormalities were detected in 346 patients. The abnormality was detected in 22.8% of cases, mainly related to the number of X chromosomes and structural abnormalities. Conclusion Chromosomal abnormalities are one of the most important causes of primary and secondary amenorrhea. Combined with clinical signs and chromosomal tests, it can provide a basis for finding the cause of amenorrhea in patients with amenorrhea.