梧州地区379例发育异常儿童外周血染色体核型分析

Karyotype analysis of peripheral blood of 379 children with developmental abnormalities in Wuzhou area

目的检测发育异常儿童的外周血染色体核型,探讨染色体异常与临床表型的关系及异常核型分布的特点。方法选取2013—2022年因身材矮小、特殊面容、精神运动发育迟缓、智力障碍等原因前来梧州市妇幼保健院就诊并进行遗传咨询的379例患儿的临床资料,患儿年龄为出生后18min~16岁,通过外周血淋巴细胞培养及G显带法对染色体核型进行分析。结果在379例患儿中检出染色体异常核型共127例,检出率为33.51%,其中染色体数目异常93例,检出率为24.54%,占异常核型构成比的73.23%;染色体结构异常12例,检出率为3.17%,占异常核型构成比为9.45%;染色体多态性变异22例,检出率为5.80%,占异常核型构成比为17.32%。结论染色体异常是导致儿童出生缺陷或发育迟缓、智力障碍、特殊面容、性发育不全的重要原因之一,其最为常见的核型异常为染色体数目异常。

Objective To investigate the relationship between chromosome abnormality and clinical pheno-type and the distribution of abnormal karyotype by detecting chromosome karyotype in peripheral blood of children with developmental abnormalities.Methods The clinical data of 379 children who visited Wuzhou Maternal and Child Health Hospital from 2013 to 2022 for short stature,special face,psychomotor development delay,intellectual disability,and other reasons for genetic counseling were selected,and the age distribution was between 18 minutes and 16 years after birth.The chromosome karyotype was analyzed by peripheral blood lymphocyte culture and G banding method.Results A total of 127 cases of abnormal karyotype were detected in 379 children(the detection rate was 33.51%),including 93 cases(24.54%)of chromosome number abnormality(accounting for 73.23%of the abnormal karyotypes).There were 12 cases with abnormal chromosome structure,with the detection rate of 3.17%,accounting for 9.45%of the abnormal karyotypes.There were 22 cases with chromosome polymorphism,with the detection rate of 5.80%,accounting for 17.32%of abnormal karyotypes.Conclusion Chromosomal abnormalities are one of the impor-tant causes of birth defects or developmental delays in children,intellectual disabilities,special facial features,and sexu-al dysplasia.The most common karyotype abnormality is chromosome number abnormality.