新生儿8号染色体长臂部分重复伴畸形1例  

A case of partial duplication of long arm of chromosome 8 with malformation in newborn

作　　者：王纪田 宋诚 杨琳 辛晓玲 王玲 WANG Jitian;SONG Cheng;YANG Lin;XIN Xiaoling;WANG Ling(First School of Clinical Medical,Gansu University of Chinese Medicine,Lanzhou,Gansu 730000,China;Obstetrics Department,the 940th Hospital of Joint Logistic Support Force of Chinese People’s Liberation Army,Lanzhou,Gansu 730050,China;Reproductive Medicine Centre,The 940th Hospital of Joint Logistic Support Force of Chinese People’s Liberation Army,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃中医药大学第一临床医学院,甘肃兰州730000 [2]中国人民解放军联勤保障部队第九四〇医院产科,甘肃兰州730050 [3]中国人民解放军联勤保障部队第九四〇医院生殖医学中心,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2022年第7期1255-1256,共2页Chinese Journal of Birth Health & Heredity

基　　金：中国人民解放军后勤科研项目(CLB19J048)。

摘　　要：本文报道了1例胎儿8号染色体长臂部分重复的产前诊断病例,孕妇于23 w+3 d行羊膜腔穿刺术,进行胎儿羊水细胞的CNV-seq和染色体核型分析,胎儿CNV-seq结果提示8q23.3q23.3区域存在198.70 kb的微重复,染色体核型结果未见异常,胎儿出生后查体见双膝关节反屈畸形,后经抢救无效死亡。我们通过回顾相关文献探讨其表型相关性,为临床遗传咨询提供参考。This paper reports a case of prenatal diagnosis of partial duplication of the long arm of fetal chromosome8. The pregnant woman underwent amniocentesis at 23w+3d. The CNV-seq and karyotype analysis of fetal amniotic fluid cells were carried out. The results of fetal CNV-seq showed that 8q23.3q23.3. There was 198.70 kb micro duplication in area 3, and there was no abnormality in the karyotype results. The fetus was found to have knee flexion deformity after birth, which was ineffective after rescue and died. We reviewed the relevant literature to explore its phenotypic correlation, so as to provide reference for clinical genetic counseling.

关 键 词：8号染色体 膝关节反屈畸形 产前诊断 

分 类 号：R722.1[医药卫生—儿科]