论文部分内容阅读
目的探讨染色体异常与特殊体征患儿的关。方法收集360例1天-12岁有特殊体征的患儿外周血进行染色体核型分析。结果在360例有特殊体征的患儿中检出异常染色体核型169例,检出率为46.94%(169/360)。在所有异常染色体核型中除1例性逆转外均为常染色体异常。结论多倍体是导致出生后特殊体征的重要原因之一,细胞遗传学检查可为特殊体征患儿提供病因提供可靠理论的依据。
Objective To investigate the relationship between chromosomal abnormalities and children with special signs. Methods Chromosomal karyotype analysis was performed in 360 cases of children with special signs of disease aged from 1 to 12 years old. Results Of the 360 children with special signs, abnormal karyotypes were detected in 169 cases, the detection rate was 46.94% (169/360). In all abnormal karyotype except one case of reversal are autosomal abnormalities. CONCLUSION: Polyploidy is one of the important causes of postnatal special signs. Cytogenetics may provide a reliable basis for providing the etiology of children with special signs.