U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chromosomal Rearrangement

MedGen UID:
271516
Concept ID:
C1515001
Cell or Molecular Dysfunction
Synonym: Chromosomal structural abnormalities

Definition

Any change in the structure of one or more chromosomes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosomal Rearrangement

Professional guidelines

PubMed

Claringbould A, Zaugg JB
Trends Mol Med 2021 Nov;27(11):1060-1073. Epub 2021 Aug 20 doi: 10.1016/j.molmed.2021.07.012. PMID: 34420874
Huang QW, He LJ, Zheng S, Liu T, Peng BN
Biomed Res Int 2019;2019:1018439. Epub 2019 Nov 11 doi: 10.1155/2019/1018439. PMID: 31815119Free PMC Article
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA
Eur J Med Genet 2023 Jun;66(6):104748. Epub 2023 Mar 21 doi: 10.1016/j.ejmg.2023.104748. PMID: 36948288
Wang S, Meyer DH, Schumacher B
Nature 2023 Jan;613(7943):365-374. Epub 2022 Dec 21 doi: 10.1038/s41586-022-05544-w. PMID: 36544019Free PMC Article
Humbert O, Samuelson C, Kiem HP
Br J Haematol 2021 Jan;192(1):33-49. Epub 2020 Jun 7 doi: 10.1111/bjh.16807. PMID: 32506752Free PMC Article
Pederzoli F, Bandini M, Marandino L, Ali SM, Madison R, Chung J, Ross JS, Necchi A
Nat Rev Urol 2020 Nov;17(11):613-625. Epub 2020 Oct 12 doi: 10.1038/s41585-020-00379-4. PMID: 33046892
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Diagnosis

Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA
Eur J Med Genet 2023 Jun;66(6):104748. Epub 2023 Mar 21 doi: 10.1016/j.ejmg.2023.104748. PMID: 36948288
Shi X, Singh S, Lin E, Li H
Adv Clin Chem 2021;100:1-35. Epub 2020 May 27 doi: 10.1016/bs.acc.2020.04.001. PMID: 33453863
Li Z, Qin F, Li H
Curr Opin Genet Dev 2018 Feb;48:36-43. Epub 2017 Nov 5 doi: 10.1016/j.gde.2017.10.002. PMID: 29100211Free PMC Article
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Therapy

Zhang C, Mei W, Zeng C
Biochim Biophys Acta Rev Cancer 2022 May;1877(3):188707. Epub 2022 Mar 2 doi: 10.1016/j.bbcan.2022.188707. PMID: 35247506
Du Z, Lovly CM
Mol Cancer 2018 Feb 19;17(1):58. doi: 10.1186/s12943-018-0782-4. PMID: 29455648Free PMC Article
Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T
Clin Genet 2017 May;91(5):653-660. Epub 2017 Feb 22 doi: 10.1111/cge.12928. PMID: 27888607
Dagogo-Jack I, Shaw AT
Ann Oncol 2016 Sep;27 Suppl 3(Suppl 3):iii42-iii50. doi: 10.1093/annonc/mdw305. PMID: 27573756Free PMC Article
Lindsley RC, LaCasce AS
Curr Opin Hematol 2012 Jul;19(4):299-304. doi: 10.1097/MOH.0b013e328353bbbd. PMID: 22504522Free PMC Article

Prognosis

Sun Y, Li H
Genes (Basel) 2022 Apr 22;13(5) doi: 10.3390/genes13050741. PMID: 35627126Free PMC Article
Zhou Y, El-Bahrawy M
J Med Genet 2021 Dec;58(12):789-795. Epub 2021 Aug 30 doi: 10.1136/jmedgenet-2021-108010. PMID: 34462289
Kumar S, Razzaq SK, Vo AD, Gautam M, Li H
Wiley Interdiscip Rev RNA 2016 Nov;7(6):811-823. Epub 2016 Aug 2 doi: 10.1002/wrna.1382. PMID: 27485475Free PMC Article
Panagopoulos I, Thorsen J, Gorunova L, Micci F, Heim S
Int J Biochem Cell Biol 2014 Aug;53:462-5. Epub 2014 May 23 doi: 10.1016/j.biocel.2014.05.018. PMID: 24863361
Lindsley RC, LaCasce AS
Curr Opin Hematol 2012 Jul;19(4):299-304. doi: 10.1097/MOH.0b013e328353bbbd. PMID: 22504522Free PMC Article

Clinical prediction guides

Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA
Eur J Med Genet 2023 Jun;66(6):104748. Epub 2023 Mar 21 doi: 10.1016/j.ejmg.2023.104748. PMID: 36948288
Chwalenia K, Facemire L, Li H
Wiley Interdiscip Rev RNA 2017 Nov;8(6) Epub 2017 Jun 7 doi: 10.1002/wrna.1427. PMID: 28589684
Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T
Clin Genet 2017 May;91(5):653-660. Epub 2017 Feb 22 doi: 10.1111/cge.12928. PMID: 27888607
Lindsley RC, LaCasce AS
Curr Opin Hematol 2012 Jul;19(4):299-304. doi: 10.1097/MOH.0b013e328353bbbd. PMID: 22504522Free PMC Article
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Recent systematic reviews

Zedan HT, Ali FH, Zayed H
Chromosoma 2022 Sep;131(3):127-146. Epub 2022 Jul 30 doi: 10.1007/s00412-022-00775-2. PMID: 35907041Free PMC Article
Iews M, Tan J, Taskin O, Alfaraj S, AbdelHafez FF, Abdellah AH, Bedaiwy MA
Reprod Biomed Online 2018 Jun;36(6):677-685. Epub 2018 Mar 15 doi: 10.1016/j.rbmo.2018.03.005. PMID: 29627226
Horng HC, Wen KC, Wang PH, Chen YJ, Yen MS, Ng HT; Taiwan Association of Gynecology Systematic Review Group
Taiwan J Obstet Gynecol 2016 Aug;55(4):472-9. doi: 10.1016/j.tjog.2016.04.034. PMID: 27590366

Supplemental Content

Table of contents

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...