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Complex chromosomal rearrangement

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

Definition

A group of rare chromosomal anomalies characterized by constitutional structural chromosomal rearrangements, including translocations, invertions, duplications and deletions, involving at least three breakpoints on two or more chromosomes. Individuals with such arrangements may display various phenotypes including cognitive impairment, congenital abnormalities and infertility, while some can also be phenotypically normal. Both de novo and familial forms are reported. [from ORPHANET]

Professional guidelines

PubMed

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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
Macera MJ, DiPillo F, Szabo P, Ramirez R, Gogineni S, Verma RS
Leukemia 1994 Mar;8(3):420-4. PMID: 7510355

Prognosis

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
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
Ngim CF, Keng WT, Ariffin R
Singapore Med J 2011 Oct;52(10):e206-9. PMID: 22009409
Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I
Am J Med Genet A 2009 Nov;149A(11):2513-21. doi: 10.1002/ajmg.a.33055. PMID: 19842199
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

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
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
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
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
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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