摘要
目的：了解河南地区群体染色体异常情况，进而探讨可能与染色体异常有关的因素。方法：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，并对染色体异常者进行家系分析和病例对照研究。结果：新生儿染色体异常８４例，异常发生率为２７４％。其中只有１１例（１３１％）由上代遗传，７３例（８６９％）为新突变所致。父母高龄、母亲妊娠期间有致畸因素暴露史、母亲有异常妊娠史及宫内发育迟缓等是新生儿染色体异常的危险因素。结论：河南地区新生儿染色体异常发生率较高，进一步开展产前诊断工作具有重要的优生学意义。
Objective: To investigate the incidence of chromosomal aberrations in Henan population and inqure into the risk factors resulting in newborns chromosomal aberrations.Methods: 3068 newborns were karyotyped with several advanced cytogenetic methods and analysed risk factors using a case control study and pedigree analysis.Results: Altogether 84 cases of chromosomal aberrations were identified.The incidence of chromosomal aberrations was 2.74%.In accordance with the pedigree analysis only 11(13%) out of 84 cases were transmitted form the previous generation,73(87%) arose de novo.The casecontrol study showed parents advanced in years,mothers exposure to detrimental factors in pregancy and mothers with aberrations reproductive histories,intranter growth retardation were risk factor resulting in chromosomal aberrations.Conclusion: The incidence of chromosomal aberrations was higher and widespread prenatal diagnosis will be of great significance in eugenics.
出处
《河南医学研究》
CAS
1999年第1期8-10,共3页
Henan Medical Research
关键词
新生儿
染色体异常
家系分析
脐血
细胞遗传学
newborn
chromosomal aberration
the pedigree analysis
case control study
