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目的探讨Turner综合征患者由于核型的差异在临床表现上的不同。方法采用外周血淋巴细胞培养常规染色体G显带技术对14例Turner综合征进行核型分析,对比其临床表现与不同核型之间的关系。结果 Turner综合征患者临床表现多样,主要核型有单体型、嵌合型、X染色体结构异常、含Y染色体。结论 X染色体缺失或部分缺失是导致Turn-er综合征的主要原因,身材矮小、第二性征发育不良是其典型的表现,临床表现取决于核型异常的程度及异常核型和正常核型细胞系的比例。
Objective To investigate the differences in clinical manifestations of patients with Turner’s syndrome due to karyotype differences. Methods Fourteen Turner’s syndromes were analyzed by conventional G-banding technique of peripheral blood lymphocytes, and the relationship between clinical manifestations and different karyotypes was compared. Results Turner syndrome patients with various clinical manifestations, the main karyotype haplotype, chimeric, X chromosome structural abnormalities, including Y chromosome. Conclusion The deletion or partial deletion of X chromosome is the main cause of Turn-er syndrome. Short stature and secondary sexual dysplasia are the typical manifestations. The clinical manifestations depend on the degree of karyotypic abnormality and the abnormal karyotype and normal karyotype The proportion of cell lines.