U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Complex chromosomal rearrangement

MedGen UID:
1825982
•Concept ID:
C5680729
•
Cell or Molecular Dysfunction
Orphanet: ORPHA263708

Professional guidelines

PubMed

Preimplantation genetic testing for complex chromosomal rearrangement carriers by next-generation sequencing.
Brunet BCFK, Shen J, Cai L, Xie J, Cui Y, Liu J, Wu W
Reprod Biomed Online 2018 Sep;37(3):375-382. Epub 2018 Jul 17 doi: 10.1016/j.rbmo.2018.07.001. PMID: 30314889
Telomere shortening and associated chromosomal instability in peripheral blood lymphocytes of patients with Hodgkin's lymphoma prior to any treatment are predictive of second cancers.
M'kacher R, Bennaceur-Griscelli A, Girinsky T, Koscielny S, Delhommeau F, Dossou J, Violot D, Leclercq E, Courtier MH, Béron-Gaillard N, Assaf E, Ribrag V, Bourhis J, Feneux D, Bernheim A, Parmentier C, Carde P
Int J Radiat Oncol Biol Phys 2007 Jun 1;68(2):465-71. Epub 2007 Apr 6 doi: 10.1016/j.ijrobp.2007.01.050. PMID: 17418962

Recent clinical studies

Etiology

Long-read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13.
Xing L, Shen Y, Wei X, Luo Y, Yang Y, Liu H, Liu H
Mol Genet Genomic Med 2022 Sep;10(9):e2011. Epub 2022 Jun 27 doi: 10.1002/mgg3.2011. PMID: 35758276Free PMC Article
Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases.
Hu L, Wei Y, Luo K, Xie P, Gong F, Xiong B, Tan Y, Lu G, Lin G
Fertil Steril 2018 Mar;109(3):486-492. Epub 2018 Feb 7 doi: 10.1016/j.fertnstert.2017.11.021. PMID: 29428313
Association of CDH11 with non-syndromic ASD.
Crepel A, De Wolf V, Brison N, Ceulemans B, Walleghem D, Peuteman G, Lambrechts D, Steyaert J, Noens I, Devriendt K, Peeters H
Am J Med Genet B Neuropsychiatr Genet 2014 Jul;165B(5):391-8. Epub 2014 May 19 doi: 10.1002/ajmg.b.32243. PMID: 24839052
A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.
Cetin Z, Yakut S, Clark OA, Mihci E, Berker S, Luleci G
Gene 2013 Mar 1;516(1):176-80. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.013. PMID: 23262338
Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement.
Kirkpatrick G, Ma S
J Assist Reprod Genet 2012 Jan;29(1):77-81. Epub 2011 Nov 22 doi: 10.1007/s10815-011-9655-0. PMID: 22105185Free PMC Article

Diagnosis

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW
Am J Med Genet A 2024 May;194(5):e63542. Epub 2024 Jan 17 doi: 10.1002/ajmg.a.63542. PMID: 38234180Free PMC Article
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Marakhonov AV, Vasilyeva TA, Minzhenkova ME, Sukhanova NV, Sparber PA, Andreeva NA, Teleshova MV, Baybagisova FK, Shilova NV, Kutsev SI, Zinchenko RA
Int J Mol Sci 2023 Nov 29;24(23) doi: 10.3390/ijms242316923. PMID: 38069245Free PMC Article
Detection of complex chromosome rearrangements using optical genome mapping.
Qu J, Li S, Yu D
Gene 2023 Oct 30;884:147688. Epub 2023 Aug 3 doi: 10.1016/j.gene.2023.147688. PMID: 37543218
A cryptic three-way translocation t(10;19;11)(p12.31;q13.31;q23.3) with a derivative Y-chromosome in an infant with acute myeloblastic leukemia (M5b).
Othman MA, Vujić D, Zecević Z, Đurišić M, Slavković B, Meyer B, Liehr T
Gene 2015 Jun 1;563(2):115-9. Epub 2015 Feb 25 doi: 10.1016/j.gene.2015.02.064. PMID: 25725124
De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature.
Weise A, Rittinger O, Starke H, Ziegler M, Claussen U, Liehr T
Cytogenet Genome Res 2003;103(1-2):14-6. doi: 10.1159/000076284. PMID: 15004457

Therapy

Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases.
Hu L, Wei Y, Luo K, Xie P, Gong F, Xiong B, Tan Y, Lu G, Lin G
Fertil Steril 2018 Mar;109(3):486-492. Epub 2018 Feb 7 doi: 10.1016/j.fertnstert.2017.11.021. PMID: 29428313
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Orendi K, Uhrig S, Mach M, Tschepper P, Speicher MR
Am J Med Genet A 2013 Jul;161A(7):1806-12. Epub 2013 May 21 doi: 10.1002/ajmg.a.35986. PMID: 23695988
Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR.
Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, Strømme P, Akre B, Vermeulen S
Am J Med Genet A 2003 Apr 30;118A(3):235-40. doi: 10.1002/ajmg.a.10106. PMID: 12673653
Complex chromosome 4, 9, and 22 rearrangement in a patient presenting with AML-FAB M2.
Martin ES, Joseph A, Ahmad MA, Borgaonkar DS, Martin SE
Cancer Genet Cytogenet 1997 Feb;93(2):119-24. doi: 10.1016/s0165-4608(96)00187-2. PMID: 9078296
T-cell receptor J beta I/J beta II locus rearrangements concurring with a complex chromosomal aberration in an HTLV-1 positive T-cell lymphoma.
Macera MJ, DiPillo F, Szabo P, Ramirez R, Gogineni S, Verma RS
Leukemia 1994 Mar;8(3):420-4. PMID: 7510355

Prognosis

Chromothripsis: an emerging crossroad from aberrant mitosis to therapeutic opportunities.
Ejaz U, Dou Z, Yao PY, Wang Z, Liu X, Yao X
J Mol Cell Biol 2024 Sep 30;16(4) doi: 10.1093/jmcb/mjae016. PMID: 38710586Free PMC Article
Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases.
Hu L, Wei Y, Luo K, Xie P, Gong F, Xiong B, Tan Y, Lu G, Lin G
Fertil Steril 2018 Mar;109(3):486-492. Epub 2018 Feb 7 doi: 10.1016/j.fertnstert.2017.11.021. PMID: 29428313
A cryptic three-way translocation t(10;19;11)(p12.31;q13.31;q23.3) with a derivative Y-chromosome in an infant with acute myeloblastic leukemia (M5b).
Othman MA, Vujić D, Zecević Z, Đurišić M, Slavković B, Meyer B, Liehr T
Gene 2015 Jun 1;563(2):115-9. Epub 2015 Feb 25 doi: 10.1016/j.gene.2015.02.064. PMID: 25725124
A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.
Cetin Z, Yakut S, Clark OA, Mihci E, Berker S, Luleci G
Gene 2013 Mar 1;516(1):176-80. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.013. PMID: 23262338
A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure.
Lespinasse J, North MO, Paravy C, Brunel MJ, Malzac P, Blouin JL
Hum Reprod 2003 Oct;18(10):2058-66. doi: 10.1093/humrep/deg424. PMID: 14507821

Clinical prediction guides

Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.
Tamura T, Yamamoto Shimojima K, Okamoto N, Yagasaki H, Morioka I, Kanno H, Minakuchi Y, Toyoda A, Yamamoto T
Am J Med Genet A 2023 Jan;191(1):112-119. Epub 2022 Oct 25 doi: 10.1002/ajmg.a.62997. PMID: 36282026
Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR):  Molecular Cytogenetic Analysis.
Olszewska M, Stokowy T, Pollock N, Huleyuk N, Georgiadis A, Yatsenko S, Zastavna D, Yatsenko AN, Kurpisz M
Int J Mol Sci 2020 Jun 26;21(12) doi: 10.3390/ijms21124559. PMID: 32604929Free PMC Article
Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases.
Hu L, Wei Y, Luo K, Xie P, Gong F, Xiong B, Tan Y, Lu G, Lin G
Fertil Steril 2018 Mar;109(3):486-492. Epub 2018 Feb 7 doi: 10.1016/j.fertnstert.2017.11.021. PMID: 29428313
Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man.
Wang L, Iqbal F, Li G, Jiang X, Bukhari I, Jiang H, Yang Q, Zhong L, Zhang Y, Hua J, Cooke HJ, Shi Q
Reprod Biomed Online 2015 Jun;30(6):651-8. Epub 2015 Mar 11 doi: 10.1016/j.rbmo.2015.02.015. PMID: 25892501
Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.
Batista DA, Pai GS, Stetten G
Am J Med Genet 1994 Nov 15;53(3):255-63. doi: 10.1002/ajmg.1320530311. PMID: 7856662

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...