论文部分内容阅读
目的统计810例新生儿脐血染色体畸变发生率,分析染色体畸变对出生缺陷发生的影响。方法常规外周血淋巴细胞培养法制备染色体标本,采用G显带技术进行细胞遗传学分析。结果在受检的810例新生儿中,检出异常核型17例,其中数目异常6例:47,XYY 1例,47,XY,+21 3例,47,XX,+Mar 2例;结构异常11例:45,XX,rob(13;14)1例,46,XX,del(5)(p13)1例,46,XY,inv(9)(p11q13)5例,46,XX,inv(9)(p11q13)2例,46,XX,inv(10)(q11q22)1例,46,XY,inv(12)(q13q24)1例。结论 810例新生儿脐血染色体核型分析结果表明染色体畸变发生率为2.1%,其中47,XY,+21发生率为0.37。鉴于染色体畸变发生率高,建议脐血染色体检查应作为新生儿常规筛查项目,从而提高遗传咨询水平,减少出生缺陷发生。
Objective To analyze the incidence of chromosome aberrations in 810 neonates and analyze the effect of chromosome aberrations on birth defects. Methods Chromosome samples were prepared by routine peripheral blood lymphocyte culture method and analyzed by cytogenetic analysis using G - banding technique. Results Among the 810 newborns tested, 17 cases were abnormal karyotypes, of which 6 were abnormal: 47 cases in XYY, 47 cases in XYY, 21 cases in 21 cases, 47 cases in XX, and 2 cases in Mar case. Abnormalities in 11 cases: 45, XX, rob (13; 14) 1 case, 46, XX, del (5) (9) (p11q13) in 2 cases, 46, XX, inv (10) (q11q22) in 1 case, 46, XY, inv (12) Conclusion The results of chromosome karyotype analysis of 810 neonates showed that the incidence of chromosomal aberrations was 2.1%, of which the incidence of 47, XY and + 21 was 0.37. In view of the high incidence of chromosome aberrations, it is recommended that cord blood chromosome examination should be used as a routine screening of newborns, thereby raising the level of genetic counseling and reduce the incidence of birth defects.