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目的了解国内外首报的染色体异常与生育缺陷和小儿智力低下的关系。方法抽取6784例患有生育缺陷和小儿智力低下患者外周血,进行常规染色体分析,部份患者孕中期抽取羊水、脐带血进行染色体核型分析。结果发现染色体异常核型714例,其中61例为国内外首次发现的染色体异常核型。通过对61例特殊患者进行临床病例分析,发现29例患者有习惯性流产史,占总数48%,10例患者为无精子或严重少精子症,占总数16%,5例患者为不育症,占总数0.8%,5例患者精子畸形率>30%,占总数0.8%,3例表现为原发性闭经,占总数0.5%,2例生育畸形儿,占总数0.3%,2例智力低下,占总数0.3%,3例胎儿发育畸形,占总数0.5%,2例平衡易位携带者,占总数0.3%。结论染色体异常是导致生育缺陷和小儿智力低下的遗传因素之一。
Objective To understand the relationship between chromosomal abnormalities and birth defects in infants and children with mental retardation at home and abroad. Methods A total of 6784 peripheral blood samples from children with impaired fertility and children with mental retardation were collected for routine chromosomal analysis. Chromosome karyotype analysis was performed in some patients during the second trimester of pregnancy. The results showed that 714 cases of chromosomal abnormalities karyotype, of which 61 cases were found for the first time at home and abroad chromosomal abnormal karyotype. Through the clinical analysis of 61 cases of special patients, found that 29 patients had a history of habitual abortion, accounting for 48% of the total, 10 patients were azoospermia or severe oligozoospermia, accounting for 16% of the total, 5 patients were infertility , Accounting for 0.8% of the total. The sperm deformity rate was> 30% in 5 cases, accounting for 0.8% of the total. Three cases showed primary amenorrhea, accounting for 0.5% of the total, 2 maternal malformations, accounting for 0.3% , Accounting for 0.3% of the total, 3 cases of fetal malformations, accounting for 0.5% of the total, 2 cases of balanced translocation carriers, accounting for 0.3% of the total. Conclusion Chromosomal abnormalities are one of the genetic factors that cause birth defects and mental retardation in children.