inv(9)(p22q34)孕妇产前诊断及遗传效应分析  

Analysis on genetic effect and prenatal diagnosis results of pregnant women with inv(9)(p22q34)

作　　者：李东明[1] 陶春凤[1] 黄海峰[1] 陈巧佩[1] 闫芳[1] 岑雪梅 欧珊[1] 李颖丰[1] 

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003

出　　处：《中国优生与遗传杂志》2015年第10期53-53,31,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨inv(9)(p22q34)孕妇遗传效应及临床表现。方法对羊水细胞和绒毛进行原位培养、染色体制备及核型分析。结果第一次产前诊断羊水细胞染色体核型为46,XX,inv(9)(p22q34),1qh+,22pstk+,因9号染色体臂间倒位类型与母亲相同,夫妇决定终止妊娠;第二次产前诊断绒毛膜细胞染色体核型为46,XX,rec(9)dup(9q)inv(9)(p22q34),胎儿鼻骨异常,夫妇也决定终止妊娠。结论 inv(9)(p22q34)可导致不良孕产史的发生,通过进行产前诊断,发现胎儿染色体核型异常时,应采取相应的措施,防止先天缺陷儿的出生。Objective：To investigate the Genetic Effect and prenatal diagnosis results of pregnant women with inv（9）（p22q34）. Methods：Analyze karyotype in amniotic fluid cells and chorionic villus in situ cultivation was performed. Results：The karyotype of chromosome in amniotic was XX,inv（9）（p22q34）,1qh＋,22pstk＋. The karyotype of chromosome in chorionic villus was 46,XX,rec（9）dup（9q）inv（9）（p22q34）,and there was an ultrasound abnormalities found in the fetal. The couples decided to terminate the pregnancy. Conclusion：inv（9）（p22q34）can result in abnormal fertility. In order to provide the birth of children with congenital defects,the significance is important to perform prenatal diagnosis.

关 键 词：9号染色体臂间倒位 产前诊断 遗传效应 

分 类 号：R714.5[医药卫生—妇产科学]