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目的通过对智力低下患者的发病原因及细胞遗传学分析,以探求有效积极的预防和干预措施。方法采用体格检查和细胞遗传学方法进行分析。探讨造成智力低下的原因及相关因素。结果 1.372例智力低下患者中检出染色体异常核型170例,检出率为45.70%(170/372),其中,常染色体数目异常150例,占染色体异常的88.24%(150/170)。常染色体结构异常15例,占染色体异常的8.82%(15/170)。性染色体数目异常3例,占染色体异常的1.76%(3/170)。性染色体结构异常2例,占染色体异常的1.18%(2/170)。2.按病因的作用时间分析,出生前因素占首位,出生低体重,出生窒息,在婴幼儿期患过与脑发育有关的疾病,是智力低下发生的相关致病因素。3.母亲生育年龄、父母的文化程度也与智力低下相关。结论智力低下的预防应以遗传学、孕前咨询、围产期保健、社会文化因素为主,提高产前筛查水平及覆盖范围,加强出生缺陷的预防措施及执行力度,减少导致智力低下的高危因素,降低智力低下患儿的出生率。
Objective To investigate the etiopathogenisis and cytogenetic analysis of patients with mental retardation to explore effective and effective preventive and intervention measures. Methods Using physical examination and cytogenetic analysis. To explore the causes of mental retardation and related factors. Results Among the 372 cases, 170 karyotypes were detected in patients with mental retardation. The detection rate was 45.70% (170/372). There were 150 cases with an autosomal abnormality, accounting for 88.24% (150/170) of chromosomal abnormalities. An autosomal structure abnormalities in 15 cases, accounting for 8.82% of chromosomal abnormalities (15/170). The number of sex chromosome abnormalities in 3 cases, accounting for 1.76% of chromosomal abnormalities (3/170). Sex chromosome abnormalities in 2 cases, accounting for 1.18% of chromosomal abnormalities (2/170). 2. According to the etiological role of time analysis, prenatal factors in the first place, low birth weight, birth asphyxia, infants and young people have had brain development-related diseases, mental retardation is related to the risk factors. 3. The mother’s reproductive age and her parents’ educational level are also related to mental retardation. Conclusion The prevention of mental retardation should be based on genetics, pre-pregnancy counseling, perinatal care, social and cultural factors, increase the level of prenatal screening and coverage, to strengthen the prevention and implementation of birth defects and reduce the risk of mental retardation Factors that reduce the birth rate of children with mental retardation.