2880例染色体检查结果分析

目的为探讨智力低下、闭经、不良生育史和性征异常的病因.方法采用细胞遗传学的方法对2 880例遗传咨询者进行了染色体检查.结果检出异常核型408例,检出率14.2%.其中染色体数目异常250例,占异常的61.3%,染色体结构异常158例,占异常的38.7%.此外,检出染色体多态变异53例,其中大Y 49例,小Y 14例.并从细胞遗传学的角度,对患者发病的原因进行了探讨.结论染色体异常是智力低下、闭经、不良生育史和性征异常的重要病因之一.染色体核型分析可为这类疾病的诊断和治疗提供有效的和重要的依据.

Chromosome analysis in 2 880 cases

Objective To explore the etiology of mental retardation,amenorrhea,abnormal childbearing history and abnormal sexual appearance.Methods Two thousands eight hundreds and eighty cases of genetical counseling were studied cytogenetically.Results Four hundreds eight cases showed chromosomal abnormalities(14.2%). Among them,250 cases were with chromosomal numeral abnormalities and 158 cases were with chromosomal structural abnormalities. Also 53 cases chromosome polymorphism,in which there were 49 cases Yq and 14 cases Yq-were found.The causes of chromosomal abnormalities were discussed.Conclusion The results showed that chromosome abnormalities were important cytogenetics factors in mental retardation,amenorrhea,abnormal childbearing history and abnormal sexual appearance.Cytogenetic chromosome karyotypic analysis was an efficient examination,which could provide an important basis for clinic diagnosis and therapy.