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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
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
Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report.
Joly-Helas G, de La Rochebrochard C, Mousset-Siméon N, Moirot H, Tiercin C, Romana SP, Le Caignec C, Clavier B, Macé B, Rives N
Hum Reprod 2007 May;22(5):1292-7. Epub 2007 Feb 5 doi: 10.1093/humrep/del507. PMID: 17283038

Diagnosis

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
Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Brereton RE, Nickerson SL, Woodward KJ, Edwards T, Sivamoorthy S, Ramos Vasques Walters F, Chabros V, Marchin V, Grumball T, Kennedy D, Uzaraga J, Peverall J, Arscott G, Beilby J, Choong CS, Townshend S, Azmanov DN
Am J Med Genet A 2021 Oct;185(10):3136-3145. Epub 2021 Jul 5 doi: 10.1002/ajmg.a.62391. PMID: 34223693
Complex chromosomal rearrangement-a lesson learned from PGS.
Frumkin T, Peleg S, Gold V, Reches A, Asaf S, Azem F, Ben-Yosef D, Malcov M
J Assist Reprod Genet 2017 Aug;34(8):1095-1100. Epub 2017 May 29 doi: 10.1007/s10815-017-0954-y. PMID: 28555358Free PMC Article
Research and clinical applications of cancer genome sequencing.
Ku CS, Cooper DN, Ziogas DE, Halkia E, Tzaphlidou M, Roukos DH
Curr Opin Obstet Gynecol 2013 Feb;25(1):3-10. doi: 10.1097/GCO.0b013e32835af17c. PMID: 23108289

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

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
Molecular characterization of complex chromosomal rearrangement: first report of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2 case.
Ahmad F, Dalvi R, Mandava S, Das BR
Pathol Res Pract 2014 Dec;210(12):1090-4. Epub 2014 Sep 21 doi: 10.1016/j.prp.2014.08.015. PMID: 25286747
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
Familial complex chromosomal rearrangement in a dysmorphic child with global developmental delay.
Ngim CF, Keng WT, Ariffin R
Singapore Med J 2011 Oct;52(10):e206-9. PMID: 22009409
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
A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility.
Cai T, Yu P, Tagle DA, Lu D, Chen Y, Xia J
Hum Reprod 2001 Jan;16(1):59-62. doi: 10.1093/humrep/16.1.59. PMID: 11139537
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

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