小儿先天异常的细胞遗传学分析

The cytogenetic karyotype analysis of 299 congenitally abnormal patients

目的 对临床怀疑染色体病或需排除染色体畸变的患儿进行细胞遗传学染色体检查 ,以探讨小儿先天异常与染色体异常之间的关系。方法 对小儿先天异常就诊者取外周血 ,37℃培养 ,常规制片 ,G显带 ,行染色体分析。结果 共检查 2 99例小儿先天异常患者的染色体 ,其中因智力低下就诊者 2 2 5例。共发现异常核型 12 9例 ,占 4 3.14 % ,其中常染色体数目异常 10 2例 ,嵌合体 4例 ,常染色体结构异常 10例 ,性染色体数目异常 4例 ,染色体与社会性别不符 7例。

Objective To study the relationship between congenitally abnormal and their chromosomal disorder.Methods Peripheral blook samples from 299 patients of congenital abnormalities were cultured,processed and banded according to the routine method.Karyotypes of each patient were analyzed.Results 129 cases abnormal karyotypes(43.14%) were inentified in 225 patients.Among these 129 cases,102 cases were numerical aberration,10 cases were autonomic structural aberration,4 cases were mosaic and 7 cases were carrying sex chromosomal aberration.Conclusion Our work suggest that chromosomal aberration plays an important role in leading to congenital abnormality,especially the mental retardation.