摘要
本文报道了1例在妊娠中期NIPT结果提示为8号染色体三体且表型未见明显异常的女性。对这名女性外周血和羊水样本分别进行核型分析和CMA检测,外周血核型分析结果为47,XX,+8[15]/46,XX[75],CMA检测结果提示约50%的细胞存在8号染色体三体,而羊水核型分析和CMA检测结果未见明显异常,该孕妇最终分娩一正常女婴。这一结果提示嵌合型8号染色体三体具有高度表型异质性,在遗传咨询尤其是产前咨询中应谨慎对待。
In this report,we present a description of a pregnant woman with mosaic trisomy 8.The phenotype of the pregnant woman was normal.Noninvasive prenatal testing(NIPT)prompted an abnormal Z-score of trisomy 8.The peripheral blood karyotype of the woman was 47,XX,+8[15]/46,XX[75],while chromosome microarray analysis(CMA)of uncultured lymphocyte showed 50%mosaicism for trisomy 8.CMA and karyotype analysis of amniocytes revealed no abnormal of the fetal chromosome.A female baby with normal phenotype was delivered at 39 weeks of gestation.This case provides proof of high heterogeneity of mosaic trisomy 8 phenotype,carefully genetic counseling should be performed for prenatal diagnose.
作者
唐俊湘
王朝红
夏媛媛
金猛猛
黄道奇
涂华玉
朱健生
TANG Junxiang;WANG Chaohong;XIA Yuanyuan;JIN Mengmeng;HUANG Daoqi;TU Huayu;ZHU Jiansheng(Anhui Province Maternity&Child Health Hospital,Affiliated Maternity and Child Health Hospital of Anhui Medical University,Hefei,Anhui 230000,China)
出处
《中国优生与遗传杂志》
2022年第5期808-810,共3页
Chinese Journal of Birth Health & Heredity
基金
安徽省重点研究与开发计划项目(202004j07020004)
安徽医科大学青年科学基金(2021xkj110)。
