论文部分内容阅读
为了解河南地区群体染色体畸变发病率情况,研究可能与染色体畸变有关的因素及再现风险。综合运用多种现代细胞遗传学技术对3068例新生儿进行染色体核型分析，并对染色体核型异常者进行家系分析、再现风险及病例对照研究。结果表明：河南地区新生儿染色体畸变发生率为2.74％;其中13.1％由亲代遗传,86.9％为子代新生突变;病例组84例中有46例再次生育,再现染色体畸变8例，染色体畸变再发生率为17.39％;孕妇高龄、异常妊娠史、妊娠期间致畸因素接触史及胎儿宫内发育迟缓等可能是新生儿染色体畸变的高危因素。
To understand the incidence of chromosomal aberrations in Henan population, the factors that may be related to chromosome aberrations and the risk of reproduction were studied. Comprehensive use of a variety of modern cytogenetic technology in 3068 cases of neonatal chromosome karyotype analysis of chromosomal abnormalities in pedigree analysis, reproduction risk and case-control study. The results showed that the incidence of chromosomal aberrations in neonates in Henan Province was 2.74%, of which 13.1% were inherited by their parents and 86.9% were newborn offspring in their offspring. In 84 cases, 46 cases were fertilized again, 8 cases of chromosomal aberrations, 8 cases of chromosomal aberrations Incidence of 17.39%; pregnant women, abnormal pregnancy history, teratogenic history of exposure during pregnancy and intrauterine growth retardation may be neonatal chromosomal aberrations risk factors.