【摘要】 目的探讨78例性染色体异常患者的临床表现并进行细胞遗传学分析。方法对患者外周血淋巴细胞行染色体常规G显带核型分析。结果 78例性染色体异常核型中,性染色体数目异常51例,占异常核型的65.38%;性染色体结构异常12例,占15.39%;Y染色体形态异常11例,占14.10%;另外还有性反转综合征4例,占5.13%。结论性染色体异常可导致性分化异常或生殖异常、智力低下等遗传效应,对患者进行染色体的检查,将有助于临床诊断和治疗。更多还原

【Abstract】 Objective: To investigate 78 cases of sex chromosome abnormalities in patients with cytogenetic analysis.Methods:Chromosomal karyotypes were examined in patients by periphery blood lymphocyte culture and carried out G banding.Results:Of all the 78 cases of sex chromosome we examined,51 cases are in the mutant type;while 12 cases are found to be structural abnormalities;11 cases were diagnosised to be Y chromosome abnormal patterns.Furthermore,we found 4 species were sex revresal;accounting for 65.38%;15.39%;14.10% and 5.13%,respectively.Conclusion:Sex chromosome abnormalities can lead to abnormal sexual differentiation or reproductive abnormalities,mental retardation and other genetic effects,chromosome examination of the patients will contribute to the clinical diagnosis and treatment.更多还原