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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
Geurts JM, Schoenmakers EF, Van de Ven WJ
Cancer Genet Cytogenet 1997 Jun;95(2):198-205. doi: 10.1016/s0165-4608(96)00411-6. PMID: 9169041
Roland B, Lowry RB, Cox DM, Ferreira P, Lin CC
Clin Genet 1993 Mar;43(3):117-21. doi: 10.1111/j.1399-0004.1993.tb04434.x. PMID: 8500257
Flejter WL, McDaniel LD, Askari M, Friedberg EC, Schultz RA
Genes Chromosomes Cancer 1992 Nov;5(4):335-42. doi: 10.1002/gcc.2870050409. PMID: 1283322
Bobrow M, Joness LF, Clarke G
J Med Genet 1971 Jun;8(2):235-9. doi: 10.1136/jmg.8.2.235. PMID: 5096548Free PMC Article

Diagnosis

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
Zechi-Ceide RM, Rodrigues MG, Jehee FS, Kokitsu-Nakata NM, Passos-Bueno MR, Guion-Almeida ML
Am J Med Genet A 2012 Jul;158A(7):1680-5. Epub 2012 May 24 doi: 10.1002/ajmg.a.35367. PMID: 22628249
Wallerstein R, Gibas L, Anderson CE, Jackson L
J Med Genet 1996 Sep;33(9):793-4. doi: 10.1136/jmg.33.9.793. PMID: 8880585Free PMC Article
Batista DA, Tuck-Muller CM, Martinez JE, Kearns WG, Pearson PL, Stetten G
Hum Genet 1993 Sep;92(2):117-21. doi: 10.1007/BF00219677. PMID: 8370575
Flejter WL, McDaniel LD, Askari M, Friedberg EC, Schultz RA
Genes Chromosomes Cancer 1992 Nov;5(4):335-42. doi: 10.1002/gcc.2870050409. PMID: 1283322

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
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
Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J
Am J Med Genet 1999 Sep 17;86(3):264-8. PMID: 10482877
Spikes AS, Hegmann K, Smith JL, Shaffer LG
Am J Med Genet 1995 May 22;57(1):31-4. doi: 10.1002/ajmg.1320570109. PMID: 7645595

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
Pylyp LY, Mykytenko DO, Spinenko LO, Lavrova KV, Verhoglyad NV, Zukin VD
Tsitol Genet 2016 Jul-Aug;50(4):74-8. PMID: 30480420
Flejter WL, McDaniel LD, Askari M, Friedberg EC, Schultz RA
Genes Chromosomes Cancer 1992 Nov;5(4):335-42. doi: 10.1002/gcc.2870050409. PMID: 1283322
Del Porto G, Grammatico P, De Sanctis S, Esposito M, Di Rosa C, Romano C
Clin Genet 1991 Jul;40(1):57-61. doi: 10.1111/j.1399-0004.1991.tb03068.x. PMID: 1884518

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