【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。更多还原

【Abstract】 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.更多还原