摘要
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 4 0 8例 ,检出率 14 .2 %。其中染色体数目异常 2 5 0例 ,占异常的 6 1.3% ,染色体结构异常 15 8例 ,占异常的 38.7%。此外 ,检出染色体多态变异 5 3例 ,其中大Y 4 9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。
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.
出处
《重庆医学》
CAS
CSCD
2004年第10期1542-1543,共2页
Chongqing medicine
关键词
染色体异常
闭经
智力低下
不良生育史
性征异常
abnormal chromosome
amenorrhea
mental retardation
abnormal childbearing history
abnormal sexual appearance
