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目的研究本地区出生缺陷与染色体核型异常的关系。方法对257例出生缺陷病例进行外周血淋巴细胞染色体核型分析。结果于257例出生缺陷患儿中检出84例染色体核型异常者,占全部被检者的32.68%;检出21三体综合征患儿63例,占全部被检者的24.51%。其中,180例男性患儿异常核型为57例,占男性被检者的31.67%,77例女性患儿异常核型27例,占女性被检者的35.07%。结论染色体核型异常是导致新生儿出生缺陷的重要原因之一。因此,对于有出生缺陷的患儿进行细胞遗传学分析是十分必要的。
Objective To study the relationship between birth defects and chromosomal abnormalities in this area. Methods 257 cases of birth defects were analyzed by peripheral blood lymphocyte chromosome karyotype. Results A total of 84 chromosomal abnormalities were detected in 257 children with birth defects, accounting for 32.68% of all the subjects. Totally 21 children with trisomy 21 were detected, accounting for 24.51% of all the subjects. Among them, there were 57 cases of abnormal karyotype in 180 males, accounting for 31.67% of male subjects, 27 cases of abnormal karyotype in 77 females, accounting for 35.07% of female subjects. Conclusion Chromosomal abnormalities are one of the important causes of neonatal birth defects. Therefore, cytogenetic analysis of children with birth defects is necessary.