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Robertsonian translocation

MedGen UID:
137692
•Concept ID:
C0333715
•
Cell or Molecular Dysfunction
Synonyms: Centric Fusion; Robertsonian Translocation
SNOMED CT: Robertsonian translocation (81568008)

Definition

A chromosomal translocation where the participating chromosomes each break at the centromere and the long arms fuse to form a single, large chromosome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRobertsonian translocation

Professional guidelines

PubMed

Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study.
Zhou F, Ren J, Li Y, Keqie Y, Peng C, Chen H, Chen X, Liu S
BMC Pregnancy Childbirth 2024 Jan 27;24(1):86. doi: 10.1186/s12884-023-06237-6. PMID: 38280990Free PMC Article
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.
Yamazaki A, Kuroda T, Kawasaki N, Kato K, Shimojima Yamamoto K, Iwasa T, Kuwahara A, Taniguchi Y, Takeshita T, Kita Y, Mikami M, Irahara M, Yamamoto T
J Hum Genet 2024 Jan;69(1):41-45. Epub 2023 Oct 23 doi: 10.1038/s10038-023-01202-9. PMID: 37872345
Prenatal diagnosis of Down syndrome: A 13-year retrospective study.
Vičić A, Hafner T, Bekavac Vlatković I, Korać P, Habek D, Stipoljev F
Taiwan J Obstet Gynecol 2017 Dec;56(6):731-735. doi: 10.1016/j.tjog.2017.10.004. PMID: 29241910

Recent clinical studies

Etiology

Robust evidence reveals the reliable rate of normal/balanced embryos for identifying reciprocal translocation and Robertsonian translocation carriers.
Tian Z, Lian W, Xu L, Long Y, Tang L, Wang H
Zygote 2024 Feb;32(1):58-65. Epub 2023 Dec 12 doi: 10.1017/S0967199423000606. PMID: 38083872
Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review.
Chen X, Zhou C
Andrologia 2022 Feb;54(1):e14262. Epub 2021 Oct 2 doi: 10.1111/and.14262. PMID: 34599520
Historical and Clinical Perspectives on Chromosomal Translocations.
Wilch ES, Morton CC
Adv Exp Med Biol 2018;1044:1-14. doi: 10.1007/978-981-13-0593-1_1. PMID: 29956287
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Complex and segmental uniparental disomy updated.
Kotzot D
J Med Genet 2008 Sep;45(9):545-56. Epub 2008 Jun 4 doi: 10.1136/jmg.2008.058016. PMID: 18524837

Diagnosis

Effects of chromosomal translocation characteristics on fertilization and blastocyst development - a retrospective cohort study.
Wu S, Zhang J, Guan Y, Ren B, Zhang Y, Liu X, Wang K, Zhang M, Li Z
BMC Med Genomics 2023 Nov 1;16(1):273. doi: 10.1186/s12920-023-01715-4. PMID: 37915045Free PMC Article
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Identifying Robertsonian Translocation Carriers by Microarray-Based DNA Analysis.
Huang S, Juneau K, Bogard PE, Davies KA, Wang ET, Kingsley CB, Struble CA, Oliphant A, Zahn JM, Nicolaides KH
Fetal Diagn Ther 2016;40(1):59-62. Epub 2016 Feb 29 doi: 10.1159/000441945. PMID: 26928717
Preimplantation genetic diagnosis outcomes and meiotic segregation analysis of robertsonian translocation carriers.
Ko DS, Cho JW, Lee HS, Kim JY, Kang IS, Yang KM, Lim CK
Fertil Steril 2013 Apr;99(5):1369-76. Epub 2013 Jan 8 doi: 10.1016/j.fertnstert.2012.12.010. PMID: 23312224
Uniparental disomy and human disease: an overview.
Yamazawa K, Ogata T, Ferguson-Smith AC
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):329-34. doi: 10.1002/ajmg.c.30270. PMID: 20803655

Therapy

Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers.
Godo A, Blanco J, Vidal F, Sandalinas M, Garcia-Guixé E, Anton E
Reprod Biomed Online 2015 Jul;31(1):79-88. Epub 2015 Apr 16 doi: 10.1016/j.rbmo.2015.04.003. PMID: 25985997
Parental origin and timing of de novo Robertsonian translocation formation.
Bandyopadhyay R, Heller A, Knox-DuBois C, McCaskill C, Berend SA, Page SL, Shaffer LG
Am J Hum Genet 2002 Dec;71(6):1456-62. Epub 2002 Nov 6 doi: 10.1086/344662. PMID: 12424707Free PMC Article
Treatment responses of childhood aplastic anaemia with chromosomal aberrations at diagnosis.
Ohga S, Ohara A, Hibi S, Kojima S, Bessho F, Tsuchiya S, Ohshima Y, Yoshida N, Kashii Y, Nishimura S, Kawakami K, Nishikawa K, Tsukimoto I; Aplastic Anaemia Committee of the Japanese Society of Paediatric Haematology
Br J Haematol 2002 Jul;118(1):313-9. doi: 10.1046/j.1365-2141.2002.03582.x. PMID: 12100167
Role of acrocentric cen-pter satellite DNA in Robertsonian translocation and chromosomal non-disjunction.
Choo KH
Mol Biol Med 1990 Oct;7(5):437-49. PMID: 2095460

Prognosis

A mathematical model for predicting the number of transferable blastocysts in next-generation sequencing-based preimplantation genetic testing.
Cai Y, Ding M, Zhang Y, Sun Y, Lin F, Diao Z, Zhou J
Arch Gynecol Obstet 2022 Jan;305(1):241-249. Epub 2021 Jul 3 doi: 10.1007/s00404-021-06050-6. PMID: 34218301
Preimplantation genetic testing results of blastocysts from 12 non-Robertsonian translocation carriers with chromosome fusion and comparison with Robertsonian translocation carriers.
Xie P, Li Y, Cheng D, Hu L, Tan Y, Luo K, Gong F, Lu G, Lin G
Fertil Steril 2021 Jul;116(1):174-180. Epub 2021 Mar 4 doi: 10.1016/j.fertnstert.2020.11.033. PMID: 33676754
How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
Wiland E, Olszewska M, Woźniak T, Kurpisz M
Cell Mol Life Sci 2020 Dec;77(23):4765-4785. Epub 2020 Jun 8 doi: 10.1007/s00018-020-03560-5. PMID: 32514588Free PMC Article
The application of PGT-A for carriers of balanced structural chromosomal rearrangements.
Fodina V, Dudorova A, Alksere B, Dzalbs A, Vedmedovska N, Andersone S, Una C, Juris E, Dace B
Gynecol Endocrinol 2019;35(sup1):18-23. doi: 10.1080/09513590.2019.1632091. PMID: 31532310
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378

Clinical prediction guides

Robust evidence reveals the reliable rate of normal/balanced embryos for identifying reciprocal translocation and Robertsonian translocation carriers.
Tian Z, Lian W, Xu L, Long Y, Tang L, Wang H
Zygote 2024 Feb;32(1):58-65. Epub 2023 Dec 12 doi: 10.1017/S0967199423000606. PMID: 38083872
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Identifying Robertsonian Translocation Carriers by Microarray-Based DNA Analysis.
Huang S, Juneau K, Bogard PE, Davies KA, Wang ET, Kingsley CB, Struble CA, Oliphant A, Zahn JM, Nicolaides KH
Fetal Diagn Ther 2016;40(1):59-62. Epub 2016 Feb 29 doi: 10.1159/000441945. PMID: 26928717
Prevalence of Emanuel syndrome: theoretical frequency and surveillance result.
Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H
Pediatr Int 2014 Aug;56(4):462-6. doi: 10.1111/ped.12437. PMID: 24980921
Homologous Robertsonian translocation (21q21q) and abortions.
Sudha T, Gopinath PM
Hum Genet 1990 Jul;85(2):253-5. doi: 10.1007/BF00193208. PMID: 2142474

Recent systematic reviews

Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review.
Chen X, Zhou C
Andrologia 2022 Feb;54(1):e14262. Epub 2021 Oct 2 doi: 10.1111/and.14262. PMID: 34599520
Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.
O'Neill ID
J Hum Genet 2010 Sep;55(9):559-64. Epub 2010 Jun 24 doi: 10.1038/jhg.2010.80. PMID: 20574425

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