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目的对一例核型为48,XXXY的Klinefelter综合征患者的异常核型起源进行分析,探讨其发病机制。方法选择DXS7593和DXS8064位点,对患者及其父母进行X染色体的短串连重复序列分析。结果 DXS7593位点检测提示患者的1条X染色体源自父亲,另2条X染色体源自母亲的同源染色体;DXS8064位点没有提供信息。结论患者异常核型发生机制为母亲的生殖细胞X染色体第二次减数分裂不分离导致携带XX卵子与父亲生殖细胞第一次减数分裂不分离携带XY精子相结合,形成核型48,XXXY的胚胎。
Objective To analyze the origin of ankaryotic karyotype in Klinefelter syndrome with a karyotype of 48 and XXXY, and to explore its pathogenesis. METHODS: The DXS7593 and DXS8064 loci were selected to analyze the X chromosome short tandem repeat sequence of patients and their parents. Results DXS7593 locus detection revealed that one X chromosome of the patient originated from the father and the other two X chromosomes originated from the mother’s homologous chromosome. The DXS8064 site did not provide any information. Conclusions The abnormal karyotype of the patient is the result of the second meiotic division of the mother’s germ cell X chromosome, which leads to the combination of the XX meiosis carrying XX eggs and the first meiosis of the father’s germ cells not carrying XY spermatozoa. Of embryos.