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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 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
Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier.
Bruyère H, Wilson RD, Langlois S
Fetal Diagn Ther 2004 Sep-Oct;19(5):399-403. doi: 10.1159/000078991. PMID: 15305095

Recent clinical studies

Etiology

Exploration of the interchromosomal effects in preimplantation genetic testing for structural rearrangements based on next-generation sequencing.
Fan J, Zhang X, Chen Y, Zhang J, Zhang L, Bi X, Wang J, Huang X, Yan M, Wu X
Mol Genet Genomic Med 2022 Sep;10(9):e2017. Epub 2022 Aug 8 doi: 10.1002/mgg3.2017. PMID: 35941827Free 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
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
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
Chromosomal evolution in primates: tentative phylogeny from Microcebus murinus (Prosimian) to man.
Dutrillaux B
Hum Genet 1979 May 10;48(3):251-314. doi: 10.1007/BF00272830. PMID: 112030

Diagnosis

Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study.
Schoemaker MJ, Jones ME, Higgins CD, Wright AF; United Kingdom Clinical Cytogenetics Group, Swerdlow AJ
Am J Epidemiol 2019 Mar 1;188(3):500-508. doi: 10.1093/aje/kwy266. PMID: 30535276Free 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
Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.
Flores-Ramírez F, Palacios-Guerrero C, García-Delgado C, Morales-Jiménez AB, Arias-Villegas CM, Cervantes A, Morán-Barroso VF
Arch Med Res 2015 Aug;46(6):484-9. Epub 2015 Aug 24 doi: 10.1016/j.arcmed.2015.08.001. PMID: 26314225
Preimplantation genetic diagnosis for couples with a Robertsonian translocation: practical information for genetic counseling.
Chang EM, Han JE, Kwak IP, Lee WS, Yoon TK, Shim SH
J Assist Reprod Genet 2012 Jan;29(1):67-75. Epub 2011 Nov 12 doi: 10.1007/s10815-011-9654-1. PMID: 22081077Free PMC Article
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

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
Nucleolar organization, ribosomal DNA array stability, and acrocentric chromosome integrity are linked to telomere function.
Stimpson KM, Sullivan LL, Kuo ME, Sullivan BA
PLoS One 2014;9(3):e92432. Epub 2014 Mar 24 doi: 10.1371/journal.pone.0092432. PMID: 24662969Free PMC Article
Genetic variation affects de novo translocation frequency.
Kato T, Inagaki H, Yamada K, Kogo H, Ohye T, Kowa H, Nagaoka K, Taniguchi M, Emanuel BS, Kurahashi H
Science 2006 Feb 17;311(5763):971. doi: 10.1126/science.1121452. PMID: 16484486Free PMC Article
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

Prognosis

Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome.
Chen CP, Tseng JJ, Wu FT, Pan YT, Wu PS, Chern SR, Lee CC, Wang W
Taiwan J Obstet Gynecol 2023 Jul;62(4):588-593. doi: 10.1016/j.tjog.2023.05.006. PMID: 37407201
Paternal uniparental disomy for chromosome 14: prenatal management.
Igreja da Silva JI, Ribeiro B, Cadilhe A, Nogueira-Silva C
BMJ Case Rep 2019 Dec 30;12(12) doi: 10.1136/bcr-2019-231705. PMID: 31892621Free PMC Article
Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study.
Schoemaker MJ, Jones ME, Higgins CD, Wright AF; UK Clinical Cytogenetics Group, Swerdlow AJ
Int J Cancer 2019 Sep 15;145(6):1493-1498. Epub 2019 Jan 11 doi: 10.1002/ijc.32031. PMID: 30496607Free 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
Structural chromosomal abnormalities in couples with recurrent abortion in Egypt.
Gaboon NE, Mohamed AR, Elsayed SM, Zaki OK, Elsayed MA
Turk J Med Sci 2015;45(1):208-13. doi: 10.3906/sag-1310-5. PMID: 25790554

Clinical prediction guides

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
A Case Report of an Infant with Robertsonian Translocation (15;22)(q10;q10) and Literature Review.
Cho CH, Shin JH, Nam MH, Lim CS, Lee CK, Cho Y, Kim YK, Yoon SY
Ann Clin Lab Sci 2016 Winter;46(1):102-5. PMID: 26927352
Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.
Flores-Ramírez F, Palacios-Guerrero C, García-Delgado C, Morales-Jiménez AB, Arias-Villegas CM, Cervantes A, Morán-Barroso VF
Arch Med Res 2015 Aug;46(6):484-9. Epub 2015 Aug 24 doi: 10.1016/j.arcmed.2015.08.001. PMID: 26314225
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
Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men.
Shi Q, Martin RH
Reproduction 2001 May;121(5):655-66. doi: 10.1530/rep.0.1210655. PMID: 11427153

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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