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Yang, C. 1q21.1 microduplication. Encyclopedia. Available online: https://encyclopedia.pub/entry/3962 (accessed on 22 September 2026).
Yang C. 1q21.1 microduplication. Encyclopedia. Available at: https://encyclopedia.pub/entry/3962. Accessed September 22, 2026.
Yang, Catherine. "1q21.1 microduplication" Encyclopedia, https://encyclopedia.pub/entry/3962 (accessed September 22, 2026).
Yang, C. (2020, December 23). 1q21.1 microduplication. In Encyclopedia. https://encyclopedia.pub/entry/3962
Yang, Catherine. "1q21.1 microduplication." Encyclopedia. Web. 23 December, 2020.
1q21.1 microduplication
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1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.

genetic conditions

References

  1. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, LalaniSR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G,Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T,Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B,Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT,Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrentreciprocal 1q21.1 deletions and duplications associated with microcephaly ormacrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008Dec;40(12):1466-71. doi: 10.1038/ng.279.
  2. Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, SchererSW, Bassett AS. 1q21.1 Microduplication expression in adults. Genet Med. 2013Apr;15(4):282-9. doi: 10.1038/gim.2012.129.
  3. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, MaloneyVK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, FirthHV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A,Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL,Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L,Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M,Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE,Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S,Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. Recurrentrearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl JMed. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384.
  4. Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E,Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur JHum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6.
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Update Date: 23 Dec 2020
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