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,...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.展开更多
BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal positions.As the genetic substance with balanced translocation in individuals does not change,wh...BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal positions.As the genetic substance with balanced translocation in individuals does not change,which is usually characterized by normal phenotype and intelligence,the individuals seek medical service after many miscarriages,resulting in considerable mental and physical burdens of the family members.In the current era with rapid advances in detection technology,cytogenetic examination,as a definitive approach,still plays an essential role.CASE SUMMARY We report six cases with balanced chromosome translocation:Case 1:46,XY,t(3;12)(q27;q24.1),infertility after 3 years of marriage;Case 2:46,XX,t(4;16)(q31;q12),small uterus and irregular menstruation;Case 3:46,XY,t(4;5)(q33;q13),9qh+,not pregnant after arrested fetal development;Case 4:46,XX,t(11;17)(q13;p11.2),not pregnant after two times of spontaneous abortion;Case 5:46,XX,t(10;13)(q24;q21.2),not pregnant after arrested fetal development for once;Case 6:46,XX,t(1;4)(p36.1;q31.1),not pregnant after arrested fetal development for two times.The first four cases had chromosomal aberration karyotypes.CONCLUSION These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal pregnancy.The discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.展开更多
The autism susceptibility candidate 2(AUTS2)gene1,2 at 7q11.2 was first identified and found disrupted because of a balanced translocation in a pair of monozygotic twins with autism spectrum disorder(ASD).Analysis of ...The autism susceptibility candidate 2(AUTS2)gene1,2 at 7q11.2 was first identified and found disrupted because of a balanced translocation in a pair of monozygotic twins with autism spectrum disorder(ASD).Analysis of 60 novel cases suggests that clinical phenotypes are more closely associated with intellectual disability rather than directly linked to ASD features.Human AUTS2 is a highly conserved gene that spans 1.2 Mb.Human AUTS2 protein has two major isoforms,full-length(1259 aa)and C-terminal(711 aa).Phenotypic analysis of patients indicated that they had borderline to severe intellectual disability/developmental delay,and 83%e100%had microcephaly.Mild dysmorphology was present.Specific traits of autism(like obsessive behavior)were seen frequently(83%).AUTS2 is also associated with alcohol consumption,heroin dependence,schizophrenia,and dyslexia,as analyzed using GWAS studies.展开更多
基金Supported by The Science and Technology Department of Jilin Province,China,No.YDZJ202301ZYTS002The Jilin Province Medical and Health Talents Project,No.2019SRCJ010.
文摘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.
基金Supported by Natural Science Foundation of Hainan Province,NO.819MS148
文摘BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal positions.As the genetic substance with balanced translocation in individuals does not change,which is usually characterized by normal phenotype and intelligence,the individuals seek medical service after many miscarriages,resulting in considerable mental and physical burdens of the family members.In the current era with rapid advances in detection technology,cytogenetic examination,as a definitive approach,still plays an essential role.CASE SUMMARY We report six cases with balanced chromosome translocation:Case 1:46,XY,t(3;12)(q27;q24.1),infertility after 3 years of marriage;Case 2:46,XX,t(4;16)(q31;q12),small uterus and irregular menstruation;Case 3:46,XY,t(4;5)(q33;q13),9qh+,not pregnant after arrested fetal development;Case 4:46,XX,t(11;17)(q13;p11.2),not pregnant after two times of spontaneous abortion;Case 5:46,XX,t(10;13)(q24;q21.2),not pregnant after arrested fetal development for once;Case 6:46,XX,t(1;4)(p36.1;q31.1),not pregnant after arrested fetal development for two times.The first four cases had chromosomal aberration karyotypes.CONCLUSION These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal pregnancy.The discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.
基金founded by SFR Cap Santé,Universitéde Reims Champagne-Ardenne,Reims,France to Aude-Marie Lepagnol-Bestel,a European Grant ERA-Net Cofund Action on Nanomedicine under Horizon 2020 Euronanomed 3(project MoDiaNo)CNES(Centre National d'Etudes Spatiales)grant(MemoBion)to Michel Simonneau.
文摘The autism susceptibility candidate 2(AUTS2)gene1,2 at 7q11.2 was first identified and found disrupted because of a balanced translocation in a pair of monozygotic twins with autism spectrum disorder(ASD).Analysis of 60 novel cases suggests that clinical phenotypes are more closely associated with intellectual disability rather than directly linked to ASD features.Human AUTS2 is a highly conserved gene that spans 1.2 Mb.Human AUTS2 protein has two major isoforms,full-length(1259 aa)and C-terminal(711 aa).Phenotypic analysis of patients indicated that they had borderline to severe intellectual disability/developmental delay,and 83%e100%had microcephaly.Mild dysmorphology was present.Specific traits of autism(like obsessive behavior)were seen frequently(83%).AUTS2 is also associated with alcohol consumption,heroin dependence,schizophrenia,and dyslexia,as analyzed using GWAS studies.
