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Xu, R. Mosaic Variegated Aneuploidy Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4273 (accessed on 28 September 2026).
Xu R. Mosaic Variegated Aneuploidy Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4273. Accessed September 28, 2026.
Xu, Rita. "Mosaic Variegated Aneuploidy Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4273 (accessed September 28, 2026).
Xu, R. (2020, December 23). Mosaic Variegated Aneuploidy Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4273
Xu, Rita. "Mosaic Variegated Aneuploidy Syndrome." Encyclopedia. Web. 23 December, 2020.
Mosaic Variegated Aneuploidy Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mosaic-variegated-aneuploidy-syndrome

Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.

genetic conditions

References

  1. García-Castillo H, Vásquez-Velásquez AI, Rivera H, Barros-Núñez P. Clinicaland genetic heterogeneity in patients with mosaic variegated aneuploidy:delineation of clinical subtypes. Am J Med Genet A. 2008 Jul 1;146A(13):1687-95. doi: 10.1002/ajmg.a.32315. Review.
  2. Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Méhes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, RahmanN. Constitutional aneuploidy and cancer predisposition caused by biallelicmutations in BUB1B. Nat Genet. 2004 Nov;36(11):1159-61.
  3. Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH,Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, DouglasJ, Rahman N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822.
  4. Suijkerbuijk SJ, van Osch MH, Bos FL, Hanks S, Rahman N, Kops GJ. Molecularcauses for BUBR1 dysfunction in the human cancer predisposition syndrome mosaicvariegated aneuploidy. Cancer Res. 2010 Jun 15;70(12):4891-900. doi:10.1158/0008-5472.CAN-09-4319.
  5. Wu Q, He R, Zhou H, Yu AC, Zhang B, Teng J, Chen J. Cep57, a NEDD1-bindingpericentriolar material component, is essential for spindle pole integrity. Cell Res. 2012 Sep;22(9):1390-401. doi: 10.1038/cr.2012.61.
  6. Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R,Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, SmithsonS, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N. Biallelic TRIP13mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet.2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 773
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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