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Yang, C. 17q12 Deletion Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/3925 (accessed on 20 September 2026).
Yang C. 17q12 Deletion Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/3925. Accessed September 20, 2026.
Yang, Catherine. "17q12 Deletion Syndrome" Encyclopedia, https://encyclopedia.pub/entry/3925 (accessed September 20, 2026).
Yang, C. (2020, December 23). 17q12 Deletion Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/3925
Yang, Catherine. "17q12 Deletion Syndrome." Encyclopedia. Web. 23 December, 2020.
17q12 Deletion Syndrome
Edit

17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12.

genetic conditions

References

  1. Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D,Bessenay L, De Parscau L, Cloarec S, Delrue MA, Taupiac E, Dizier E, Laroche C,Bahans C, Yardin C, Lacombe D, Guigonis V. Towards a new point of view on thephenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child. 2015Mar;100(3):259-64. doi: 10.1136/archdischild-2014-306810.
  2. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D,Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C.Recurrent reciprocal genomic rearrangements of 17q12 are associated with renaldisease, diabetes, and epilepsy. Am J Hum Genet. 2007 Nov;81(5):1057-69.
  3. Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH,Martin CL. 17q12 Recurrent Deletion Syndrome. 2016 Dec 8 [updated 2020 Oct 15].In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK401562/
  4. Moreno-De-Luca D; SGENE Consortium, Mulle JG; Simons Simplex CollectionGenetics Consortium, Kaminsky EB, Sanders SJ; GeneSTAR, Myers SM, Adam MP, PakulaAT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, HuangS, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004.
  5. Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M,Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW. Clinicalspectrum associated with recurrent genomic rearrangements in chromosome 17q12.Eur J Hum Genet. 2010 Mar;18(3):278-84. doi: 10.1038/ejhg.2009.174.
  6. Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C,Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review ofthe literature. Am J Med Genet A. 2016 Nov;170(11):2934-2942. doi:10.1002/ajmg.a.37848.
  7. Stefansson H, Meyer-Lindenberg A, Steinberg S, Magnusdottir B, Morgen K,Arnarsdottir S, Bjornsdottir G, Walters GB, Jonsdottir GA, Doyle OM, Tost H,Grimm O, Kristjansdottir S, Snorrason H, Davidsdottir SR, Gudmundsson LJ, JonssonGF, Stefansdottir B, Helgadottir I, Haraldsson M, Jonsdottir B, Thygesen JH,Schwarz AJ, Didriksen M, Stensbøl TB, Brammer M, Kapur S, Halldorsson JG,Hreidarsson S, Saemundsen E, Sigurdsson E, Stefansson K. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature. 2014 Jan16;505(7483):361-6. doi: 10.1038/nature12818.
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