Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report
Abstract Background Monozygotic twins are nearly identical in genotype and phenotype because monozygotic twins arise from one fertilized oocyte. In all cases of discordant karyotype in monozygotic twins, trisomy 21 accounts for about one in 385,000. Monozygotic twins discordant for Robertsonian tran...
Main Authors: | , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2021-01-01
|
Series: | BMC Pregnancy and Childbirth |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12884-021-03587-x |
id |
doaj-3a87d280870543eca0689259c8d8d6f5 |
---|---|
record_format |
Article |
spelling |
doaj-3a87d280870543eca0689259c8d8d6f52021-01-31T16:06:34ZengBMCBMC Pregnancy and Childbirth1471-23932021-01-012111610.1186/s12884-021-03587-xMonozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case reportDingya Cao0Jimei Sun1Nan Li2Zhihua Li3Weiqiang Liu4Min Chen5Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical UniversityAbstract Background Monozygotic twins are nearly identical in genotype and phenotype because monozygotic twins arise from one fertilized oocyte. In all cases of discordant karyotype in monozygotic twins, trisomy 21 accounts for about one in 385,000. Monozygotic twins discordant for Robertsonian translocation trisomy 21 of the der (21;21)(q10;q10), in which the additional chromosome originates from the father is rare. Case presentation A 28-year-old parous woman, G3P1A0, came to our institution for a dating scan at 8 weeks of gestation. The transvaginal ultrasound examination demonstrated a monochorionic diamniotic pregnancy. She and her husband were healthy, with no family history of trisomy 21 or other congenital diseases. The ultrasound examination of nuchal translucency thickness was discordant in twins at 13 weeks (twin A, NT 1.4 mm with CRL being 65 mm; twin B, NT 7.8 mm with CRL being 69 mm). At 17+ 4 weeks, twin A was normal, but ventricular septal defect and the hypoplastic left heart was detected in twin B. The deepest vertical pocket was 18 mm in twin A (oligohydramnios) and 102 mm in Twin B (polyhydramnios). The bladder in twin A was absent. Ultrasound findings indicated TTTS Stage II. Amniocentesis was performed for the two fetuses. The karyotyping results revealed 46, XX in twin A but 46,XX,+ 21,der (21;21)(q10;q10) in twin B. For twin B, the parents opted for selective fetal termination by radiofrequency ablation. The procedure was uneventful. At 40+ 5 weeks, twin A was born with a birth weight of 4120 g by vaginal delivery. Conclusions The early detection of discordant karyotype and twin-to-twin transfusion syndrome is beneficial to the early intervention. In monozygotic twins with a discordant anomaly, the discordant karyotype should be considered.https://doi.org/10.1186/s12884-021-03587-xMonozygotic twinsMonochorionic diamnioticHomologous Robertsonian translocationTrisomy 21Discordant karyotypeDiscordant anomaly |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Dingya Cao Jimei Sun Nan Li Zhihua Li Weiqiang Liu Min Chen |
spellingShingle |
Dingya Cao Jimei Sun Nan Li Zhihua Li Weiqiang Liu Min Chen Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report BMC Pregnancy and Childbirth Monozygotic twins Monochorionic diamniotic Homologous Robertsonian translocation Trisomy 21 Discordant karyotype Discordant anomaly |
author_facet |
Dingya Cao Jimei Sun Nan Li Zhihua Li Weiqiang Liu Min Chen |
author_sort |
Dingya Cao |
title |
Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report |
title_short |
Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report |
title_full |
Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report |
title_fullStr |
Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report |
title_full_unstemmed |
Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report |
title_sort |
monozygotic twins discordant for homologous robertsonian translocation trisomy 21 of 46, xx, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report |
publisher |
BMC |
series |
BMC Pregnancy and Childbirth |
issn |
1471-2393 |
publishDate |
2021-01-01 |
description |
Abstract Background Monozygotic twins are nearly identical in genotype and phenotype because monozygotic twins arise from one fertilized oocyte. In all cases of discordant karyotype in monozygotic twins, trisomy 21 accounts for about one in 385,000. Monozygotic twins discordant for Robertsonian translocation trisomy 21 of the der (21;21)(q10;q10), in which the additional chromosome originates from the father is rare. Case presentation A 28-year-old parous woman, G3P1A0, came to our institution for a dating scan at 8 weeks of gestation. The transvaginal ultrasound examination demonstrated a monochorionic diamniotic pregnancy. She and her husband were healthy, with no family history of trisomy 21 or other congenital diseases. The ultrasound examination of nuchal translucency thickness was discordant in twins at 13 weeks (twin A, NT 1.4 mm with CRL being 65 mm; twin B, NT 7.8 mm with CRL being 69 mm). At 17+ 4 weeks, twin A was normal, but ventricular septal defect and the hypoplastic left heart was detected in twin B. The deepest vertical pocket was 18 mm in twin A (oligohydramnios) and 102 mm in Twin B (polyhydramnios). The bladder in twin A was absent. Ultrasound findings indicated TTTS Stage II. Amniocentesis was performed for the two fetuses. The karyotyping results revealed 46, XX in twin A but 46,XX,+ 21,der (21;21)(q10;q10) in twin B. For twin B, the parents opted for selective fetal termination by radiofrequency ablation. The procedure was uneventful. At 40+ 5 weeks, twin A was born with a birth weight of 4120 g by vaginal delivery. Conclusions The early detection of discordant karyotype and twin-to-twin transfusion syndrome is beneficial to the early intervention. In monozygotic twins with a discordant anomaly, the discordant karyotype should be considered. |
topic |
Monozygotic twins Monochorionic diamniotic Homologous Robertsonian translocation Trisomy 21 Discordant karyotype Discordant anomaly |
url |
https://doi.org/10.1186/s12884-021-03587-x |
work_keys_str_mv |
AT dingyacao monozygotictwinsdiscordantforhomologousrobertsoniantranslocationtrisomy21of46xx21der2121q10q10inatwintotwintransfusionsyndromecasereport AT jimeisun monozygotictwinsdiscordantforhomologousrobertsoniantranslocationtrisomy21of46xx21der2121q10q10inatwintotwintransfusionsyndromecasereport AT nanli monozygotictwinsdiscordantforhomologousrobertsoniantranslocationtrisomy21of46xx21der2121q10q10inatwintotwintransfusionsyndromecasereport AT zhihuali monozygotictwinsdiscordantforhomologousrobertsoniantranslocationtrisomy21of46xx21der2121q10q10inatwintotwintransfusionsyndromecasereport AT weiqiangliu monozygotictwinsdiscordantforhomologousrobertsoniantranslocationtrisomy21of46xx21der2121q10q10inatwintotwintransfusionsyndromecasereport AT minchen monozygotictwinsdiscordantforhomologousrobertsoniantranslocationtrisomy21of46xx21der2121q10q10inatwintotwintransfusionsyndromecasereport |
_version_ |
1724316830493835264 |