遗传 ›› 2000, Vol. 22 ›› Issue (5): 281-284.

• 论文 • 上一篇    下一篇

河南地区新生儿染色体畸变的流行病学调查

廖世秀;杨艳丽;黄飞飞;李怡;郝冰涛;司艳梅;王应太;王兆才 LIAO Shi-xiu;YANG Yan-li;HUANG Fei-fei;et al.   

  1. 郑州河南省人民医院医学遗传研究所,河南 450003 Institue of Medical Genetics,the Peoples,Hospital of Henan Province,Zhengzhou 450003,China
  • 收稿日期:1900-01-01 出版日期:2000-10-10 发布日期:2000-10-10

An Epidemiological Study of Newborn Chromosomal Aberrations in Henan Province of China

  • Received:1900-01-01 Online:2000-10-10 Published:2000-10-10

摘要: 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。
Abstract:To investigate the incidence of chromosomal aberrations and recurrence risk in Henan and inqure into the risk factors resulting in newborn chromosomal aberrations,3 068 newbors were karyotyped with several advanced cytogenetic methods.The result showed the incidence of chromosomal aberrations was 2.74%(84cases),only 13.1% out of 84 aberrations were transmitted from the previous generation and 86.9% arose de novo.Within 46 second babies being born after their sibling with chromosomal aberrations,8 were abnormal karyotypes,the recurrence rate was 17.39%.The case-control study showed mothers with advanced age,mothers exposure to detrimental factors in pregancy and mothers with abnormal reproductive histories,intranter growth retardation may be the risk factors resulting in chromosomal aberrations.

关键词: 再现风险
Key words,
newborn, chromosomal aberrations, 染色体畸变, 新生儿