463例遗传咨询儿童的染色体G显带核型分析

Chromosome G bandage karyotype analysis of 463 genetically counseled children

目的研究河南地区遗传咨询患儿中异常核型的发生率及其类型。方法回顾分析463例因精神发育迟缓、脑损伤综合征等来我科进行遗传咨询的患儿的染色体G显带核型分析结果。结果共检出38例异常核型,检出率8.2%。其中21三体综合征13例,猫叫综合征3例,染色体重复7例,染色体易位6例,余为染色体衍生,缺失等。结论染色体异常与儿童发育落后、精神发育迟缓、脑损伤综合征等有密切关系,有上述临床表现的患儿应积极开展染色体检测。

Objective： Study on the incidence and types of abnormal karyotypes in children with genetic counseling in Henan. Methods： The results of chromosomal G banding karyotype analysis of 463 children with genetic counseling in our department due to mental retardation and brain injury syndrome were retrospectively analyzed. Results： A total of 38 cases of abnormal karyotypes were detected with a detection rate of 8.2%. Among them, there were 13 cases of Down syndrome, 3 cases of cat cry syndrome, 7 cases of chromosome duplication, 6 cases of chromosomal translocations, and the rest were chromosome derivation and deletion. Conclusion： Chromosome abnormalities are closely related to children＇s backward development, mental retardation, and brain injury syndrome. Children with the above clinical manifestations should actively carry out chromosome tests.