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目的探讨兰州地区智力低下和(或)发育迟缓与患儿染色体异常的关系,并分析唐氏综合征(Down syndrome,DS)患儿染色体核型的分布及特点。方法对289例有智力低下和(或)发育迟缓疑似DS的患儿抽取外周血,行淋巴细胞培养,G显带核型分析。结果 289例患儿中检出异常核型215例,检出率为74.39%,其中常染色体异常202例,性染色体异常13例。DS为主要异常(68.51%),以单纯型DS为主(90.91%)。62.42%的DS患儿母亲生育年龄<35岁。结论发生智力低下和(或)发育迟缓的主要原因是染色体异常,所以应加强育龄女性的产前筛查和孕前指导。
Objective To investigate the relationship between mental retardation and chromosomal abnormalities in children with Langerhansia and / or retardation and analyze the distribution and characteristics of karyotypes in children with Down syndrome (DS). Methods Peripheral blood was collected from 289 children with mental retardation and / or suspicious growth retardation. Lymphocyte culture and G - banding karyotype analysis were performed. Results A total of 215 cases of abnormal karyotypes were detected in 289 cases, the detection rate was 74.39%. There were 202 cases of autosomal abnormalities and 13 cases of sex chromosome abnormalities. DS was the main abnormality (68.51%), mainly pure DS (90.91%). 62.42% of DS children with mother’s reproductive age <35 years old. Conclusions The main reason for mental retardation and / or retardation is chromosomal abnormalities. Therefore, prenatal screening and prenatal guidance should be strengthened.