U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Duplication of chromosome

MedGen UID:
275730
•Concept ID:
C1516516
•
Cell or Molecular Dysfunction
Synonyms: Chromosomal Duplication; Chromosomal Duplications; Chromosome Duplication; Chromosome Duplications; Duplication, Chromosomal; Duplication, Chromosome; Duplications, Chromosomal; Duplications, Chromosome
SNOMED CT: Duplication of chromosome (205728002)

Definition

An irregularity in the number of chromosomes, usually in the form of a gain of genetic material. (NCI) [from NCI]

Professional guidelines

PubMed

Fluconazole Monotherapy Is a Suboptimal Option for Initial Treatment of Cryptococcal Meningitis Because of Emergence of Resistance.
Hope W, Stone NRH, Johnson A, McEntee L, Farrington N, Santoro-Castelazo A, Liu X, Lucaci A, Hughes M, Oliver JD, Giamberardino C, Mfinanga S, Harrison TS, Perfect JR, Bicanic T
mBio 2019 Dec 3;10(6) doi: 10.1128/mBio.02575-19. PMID: 31796539Free PMC Article
Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion.
Chen CP, Ko TM, Su YN, Wang LK, Chern SR, Wu PS, Chen YN, Chen SW, Ko K, Lee CC, Chen LF, Yang CW, Wang W
Taiwan J Obstet Gynecol 2016 Oct;55(5):733-737. doi: 10.1016/j.tjog.2016.07.007. PMID: 27751426
Clinical genetic testing for patients with autism spectrum disorders.
Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration
Pediatrics 2010 Apr;125(4):e727-35. Epub 2010 Mar 15 doi: 10.1542/peds.2009-1684. PMID: 20231187Free PMC Article

Recent clinical studies

Etiology

Impact of Prescribed Exercise on the Physical and Cognitive Health of Adults with Down Syndrome: The MinDSets Study.
Merzbach V, Ferrandino M, Gernigon M, Marques Pinto J, Scruton A, Gordon D
Int J Environ Res Public Health 2023 Nov 29;20(23) doi: 10.3390/ijerph20237121. PMID: 38063551Free PMC Article
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
Starr LJ, Sanmann JN, Olney AH, Wandoloski M, Sanger WG, Coulter DW
Am J Med Genet A 2014 Apr;164A(4):1079-82. Epub 2014 Mar 4 doi: 10.1002/ajmg.a.36432. PMID: 24596125
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.
Tupler R, Pagliano E, Barbierato L, Lanzi G, Maraschio P, Fazzi E
Am J Med Genet 1996 Mar 15;62(2):160-3. doi: 10.1002/(SICI)1096-8628(19960315)62:2<160::AID-AJMG8>3.0.CO;2-#. PMID: 8882396

Diagnosis

Prenatal detection of chromosome 7q deletion with duplication: A case report and literature review.
Zhu J, Hu J
Medicine (Baltimore) 2024 Jun 7;103(23):e38461. doi: 10.1097/MD.0000000000038461. PMID: 38847723Free PMC Article
Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Megacystis, megacolon, and malrotation: a new syndromic association?
Pini Prato A, Rossi V, Fiore M, Avanzini S, Mattioli G, Sanfilippo F, Michelazzi A, Borghini S, Disma N, Montobbio G, Barabino A, Nozza P, Ceccherini I, Gimelli S, Jasonni V
Am J Med Genet A 2011 Aug;155A(8):1798-802. Epub 2011 Jul 7 doi: 10.1002/ajmg.a.34119. PMID: 21739599
The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
Woodward KJ
Expert Rev Mol Med 2008 May 19;10:e14. doi: 10.1017/S1462399408000677. PMID: 18485258
The role of the replication licensing system in cell proliferation and cancer.
Shreeram S, Blow JJ
Prog Cell Cycle Res 2003;5:287-93. PMID: 14593723Free PMC Article

Therapy

Fluconazole Monotherapy Is a Suboptimal Option for Initial Treatment of Cryptococcal Meningitis Because of Emergence of Resistance.
Hope W, Stone NRH, Johnson A, McEntee L, Farrington N, Santoro-Castelazo A, Liu X, Lucaci A, Hughes M, Oliver JD, Giamberardino C, Mfinanga S, Harrison TS, Perfect JR, Bicanic T
mBio 2019 Dec 3;10(6) doi: 10.1128/mBio.02575-19. PMID: 31796539Free PMC Article
Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication.
Rezazadeh A, Borlot F, Faghfoury H, Andrade DM
Seizure 2017 May;48:57-61. Epub 2017 Apr 11 doi: 10.1016/j.seizure.2017.04.004. PMID: 28419948
Predicting Anthracycline Benefit: TOP2A and CEP17-Not Only but Also.
Bartlett JM, McConkey CC, Munro AF, Desmedt C, Dunn JA, Larsimont DP, O'Malley FP, Cameron DA, Earl HM, Poole CJ, Shepherd LE, Cardoso F, Jensen MB, Caldas C, Twelves CJ, Rea DW, Ejlertsen B, Di Leo A, Pritchard KI
J Clin Oncol 2015 May 20;33(15):1680-7. Epub 2015 Apr 20 doi: 10.1200/JCO.2013.54.7869. PMID: 25897160
Infantile spasms associated with proximal duplication of chromosome 15q.
Bingham PM, Spinner NB, Sovinsky L, Zackai EH, Chance PF
Pediatr Neurol 1996 Sep;15(2):163-5. doi: 10.1016/0887-8994(96)00119-1. PMID: 8888053
Down syndrome: toward a molecular definition of the phenotype.
Korenberg JR, Kawashima H, Pulst SM, Allen L, Magenis E, Epstein CJ
Am J Med Genet Suppl 1990;7:91-7. doi: 10.1002/ajmg.1320370719. PMID: 2149983

Prognosis

Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
OTX2 duplication is implicated in hemifacial microsomia.
Zielinski D, Markus B, Sheikh M, Gymrek M, Chu C, Zaks M, Srinivasan B, Hoffman JD, Aizenbud D, Erlich Y
PLoS One 2014;9(5):e96788. Epub 2014 May 9 doi: 10.1371/journal.pone.0096788. PMID: 24816892Free PMC Article
Megacystis, megacolon, and malrotation: a new syndromic association?
Pini Prato A, Rossi V, Fiore M, Avanzini S, Mattioli G, Sanfilippo F, Michelazzi A, Borghini S, Disma N, Montobbio G, Barabino A, Nozza P, Ceccherini I, Gimelli S, Jasonni V
Am J Med Genet A 2011 Aug;155A(8):1798-802. Epub 2011 Jul 7 doi: 10.1002/ajmg.a.34119. PMID: 21739599
The role of the replication licensing system in cell proliferation and cancer.
Shreeram S, Blow JJ
Prog Cell Cycle Res 2003;5:287-93. PMID: 14593723Free PMC Article
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.
Tupler R, Pagliano E, Barbierato L, Lanzi G, Maraschio P, Fazzi E
Am J Med Genet 1996 Mar 15;62(2):160-3. doi: 10.1002/(SICI)1096-8628(19960315)62:2<160::AID-AJMG8>3.0.CO;2-#. PMID: 8882396

Clinical prediction guides

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
Interstitial duplication of 20q11.22q13.11: A case report and review of literature.
Goetzinger L, Starks RD, Dillahunt K, Major H, Nagy JM, Sidhu A
Mol Genet Genomic Med 2021 Aug;9(8):e1755. Epub 2021 Jul 16 doi: 10.1002/mgg3.1755. PMID: 34268909Free PMC Article
Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p.
Yi C, Dingya C, Nengqing L, Hongmei G, Yi L, Huimin Z, Jiajia X, Bing S, Xiaofang S
Stem Cell Res 2021 Apr;52:102226. Epub 2021 Feb 5 doi: 10.1016/j.scr.2021.102226. PMID: 33588214
Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22.
Marinko JT, Carter BD, Sanders CR
J Biol Chem 2020 Aug 21;295(34):11963-11970. Epub 2020 Jul 9 doi: 10.1074/jbc.AC120.014940. PMID: 32647009Free PMC Article
Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease.
St George-Hyslop PH, Tanzi RE, Polinsky RJ, Neve RL, Pollen D, Drachman D, Growdon J, Cupples LA, Nee L, Myers RH
Science 1987 Oct 30;238(4827):664-6. doi: 10.1126/science.2890206. PMID: 2890206

Recent systematic reviews

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal CAA, Salloum MN, Alahdab F, Gottwald JA, Tester DJ, Anwer LA, So EL, Murad MH, St Louis EK, Ackerman MJ, Somers VK
J Am Heart Assoc 2020 Jan 7;9(1):e012264. Epub 2019 Dec 21 doi: 10.1161/JAHA.119.012264. PMID: 31865891Free PMC Article

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

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...