Objective:To investigate the risk f actors in children with genetic counseling in Nantong region and to discuss the relationship between the children and chromosomal abnormalities. Methods:The clinical diagnosis of 105 cases of mental retardation, congenital malformations, special face, mental retardation, short stature, genital abnormalities in chil-dren with peripheral blood lymphocyte culture and G-banding analysis. Results:50 cases of abnormal karyotypes in 105 cases of children with genetic counseling were detected. The detection rate was 47.6%. Among them, the chromosome number was abnormal in 38 cases, there appeared chromosome structural abnormality in 4 cases, chromosome polymor-phism in 6 cases and unknown diagnosis in 2 cases. 36 cases of trisomy 21 comprehensive syndrome in the abnormal karyotypes were found, and the detection rate was 72%.Mothers of children with gestational age in 20~29 years old were in the majority(63.04%);pregnancy and early pregnancy with harmful material contact history were seen in 51 cases (48.58%);the majority of their parents’ occupation was workers and farmers(68.58%). Conclusions:The abnormal chromosome detec-tion rate of the children with genetic counseling was high, and it was correlated with clinical phenotype. The abnormal causes of the mutation of the parental germ cells caused by the mutation of the environment, so that the chromosome ab-normality of the children was one of the main reasons for the genetic counseling. It was suggested that effective control and prevention of chromosome disease was necessary to improve the quality of the population.%目的：探讨南通地区遗传咨询患儿的发病因素及与染色体异常的关系。方法：对105例临床诊断为精神发育迟缓、先天畸形、特殊面容、智力低下、身材矮小、外生殖器异常的患儿进行外周血淋巴细胞培养，染色体G显带分析。结果：在105例遗传咨询患儿中，检出染色体异常核型50例（47.62%）。其中染色体数目异常38例；染色体结构异常4例；染色体多态性6例；诊断不明2例。异常核型中21三体综合征36例（72.00%）。患儿母亲妊娠年龄20~29岁66例（62.86%）；孕前或孕早期有害物质接触史51例（48.57%）；父母职业工人和农民72例（68.57%）。结论：父母生殖细胞因环境致突变因素的增加而导致异常，使患儿染色体异常成为遗传咨询主要原因。有效控制及预防染色体病的发生对提高人口质量十分必要。
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