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对临床诊断有精神运动发育迟缓、脑瘫、先天畸形、特殊面容、智力低下、身材矮小、外生殖器异常等858例患儿进行了外周血淋巴细胞染色体G显带检查,检出染色体异常核型158例。检出率为18.41%。其中常染色体数目异常110例,常染色体结构异常19例,性染色体数目异常18例,性染色体结构异常11例。检出异常核型尤以21三体为主。提示染色体异常与儿童智力低下及发育异常有密切关系,21三体综合征Down’s syndrome仍是最常见染色体病,有效控制及预防染色体病的发生对提高人口素质十分必要。
858 children with mental retardation, cerebral palsy, congenital malformations, special facial features, mental retardation, short stature, and external genitalia were examined by G-banding of peripheral blood lymphocytes. The chromosomal aberration Karyotype 158 was detected example. The detection rate was 18.41%. There were 110 cases of an autosomal abnormality, 19 cases of autosomal abnormality, 18 cases of abnormal sex chromosome number and 11 cases of abnormal sex chromosome structure. Detected abnormal karyotype especially trisomy 21. Tip chromosomal abnormalities and children with mental retardation and developmental abnormalities are closely related, 21 trisomy Syndrome Down’s syndrome is still the most common chromosome disease, the effective control and prevention of chromosomal disease is necessary to improve the quality of the population.