胎儿等臂假双着丝粒型21-三体一例报道  

Case report of pseudoisodicentric chromosome 21 in fetus

作　　者：余小平[1] 戎立敏[1] 张宁[1] 李亚丽[1] YV Xiao-ping;RONG Li-min;ZHANG Ning;LI Ya-li(Hebei General Hospital,Hebei ,Shijiazhuang 050051,China)

机构地区：[1]河北省人民医院

出　　处：《中国优生与遗传杂志》2018年第12期60-61,F0002,共3页Chinese Journal of Birth Health & Heredity

摘　　要：等臂假双着丝粒型21-三体临床上较为罕见,是一种特殊类型的21-三体,胎儿表型为唐氏综合征。本文报道了1例羊膜腔穿刺产前诊断胎儿等臂假双着丝粒型21-三体,并结合文献复习,以提高临床医生对该核型的认识,为临床工作提供参考。Pseudoisodicentric chromosome 21 is a special trisomy 21,which is a rare chromosome karyotype in the clinic;the clinical phenotype of the fetus with the karyotype is Down′s syndrome. The paper reports a case that makes a prenatal diagnosis of pseudoisodicentric chromosome 21 in fetus by diagnostic amniocentesis,in order to improve the clinician′s understanding of the karyotype,and provide reference for their clinical work.

关 键 词：等臂假双着丝粒 染色体 产前诊断 胎儿 

分 类 号：R596.1[医药卫生—内科学]