Prenatal diagnosis of balanced translocation from three families:Six case reports  

作　　者：Xun Kan Yu-Xin Xie Lan Yao Lu-Yao Wang Yu-Xin Xia Jian-Qiao Sun Ming-Lei Bian Liang Yu Ying-Li Lu 

机构地区：[1]Obstetrics and Gynecology Research Laboratory,The Second Hospital of Jilin University,Changchun 130041,Jilin Province,China [2]Reproductive Medicine Center,The First Affiliated Hospital of Anhui University of Chinese Medicine,Hefei 230031,Anhui Province,China [3]Reproductive Medicine Center,The Second Hospital of Jilin University,Changchun 130041,Jilin Province,China [4]Department of Reproductive Clinical Science,Macon and Joan Brock Virginia Health Sciences,Old Dominion University,Virginia,VA 23507,United States

出　　处：《World Journal of Clinical Cases》2025年第20期35-41,共7页世界临床病例杂志(英文)

基　　金：Supported by The Science and Technology Department of Jilin Province,China,No.YDZJ202301ZYTS002;The Jilin Province Medical and Health Talents Project,No.2019SRCJ010.

摘　　要：BACKGROUND Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems.However,potential chromosomal imbalance in their gametes can lead to implantation failure,miscarriage,or the birth of a child with a chromosomal abnormality.CASE SUMMARY We report six cases of chromosomal translocations involving three families,including the specific Robertson(Roche)translocation.Case 1:The karyotype of the proband was 46,XX,t(18;19)(q22;p12).Case 2:Interventional prenatal diagnosis at 18 weeks of gestation confirmed that the karyotype of the fetus was 46,XY,t(18;19)(q22;p12).Case 3:The karyotype of the proband was 46,XY,t(5;18)(p13;p11).Case 4:Interventional prenatal diagnosis at 14+6 weeks confirmed that the karyotype of the fetus was 46,XX,der(18)t(5;18)(p13;p11)pat.Case 5:The karyotype of the proband was 45,XY,der(14;22)(q10;q10).Case 6:Interventional prenatal diagnosis at 19+4 weeks confirmed that the karyotype of the fetus was 45,XX,rob(14;22)(q10;q10).CONCLUSION Carriers of chromosomal translocations have a high risk of adverse pregnancy outcomes,though they can still have normal offspring.This report on six cases of chromosomal translocations from three families could serve as a reference for future prenatal diagnosis of chromosomal translocations and decision-making on whether to continue the pregnancy.

关 键 词：Chromosomal translocation Prenatal diagnosis Balanced translocation Robertson translocation Case report 

分 类 号：R714.5[医药卫生—妇产科学]