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Yang, C. 1q21.1 Microdeletion. Encyclopedia. Available online: https://encyclopedia.pub/entry/3960 (accessed on 25 September 2026).
Yang C. 1q21.1 Microdeletion. Encyclopedia. Available at: https://encyclopedia.pub/entry/3960. Accessed September 25, 2026.
Yang, Catherine. "1q21.1 Microdeletion" Encyclopedia, https://encyclopedia.pub/entry/3960 (accessed September 25, 2026).
Yang, C. (2020, December 23). 1q21.1 Microdeletion. In Encyclopedia. https://encyclopedia.pub/entry/3960
Yang, Catherine. "1q21.1 Microdeletion." Encyclopedia. Web. 23 December, 2020.
1q21.1 Microdeletion
Edit

1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.

genetic conditions

References

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  2. Haldeman-Englert CR, Jewett T. 1q21.1 Recurrent Microdeletion. 2011 Feb 24[updated 2015 Nov 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK52787/
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  4. 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.
  5. 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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Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Update Date: 23 Dec 2020
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