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

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.