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Yang, C. 17q12 duplication. Encyclopedia. Available online: https://encyclopedia.pub/entry/3926 (accessed on 25 September 2026).
Yang C. 17q12 duplication. Encyclopedia. Available at: https://encyclopedia.pub/entry/3926. Accessed September 25, 2026.
Yang, Catherine. "17q12 duplication" Encyclopedia, https://encyclopedia.pub/entry/3926 (accessed September 25, 2026).
Yang, C. (2020, December 23). 17q12 duplication. In Encyclopedia. https://encyclopedia.pub/entry/3926
Yang, Catherine. "17q12 duplication." Encyclopedia. Web. 23 December, 2020.
17q12 duplication
Edit

17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.

genetic conditions

References

  1. Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi B, Saggese G, Simi P, Valetto A. 17q12 microduplications: a challenge forclinicians. Am J Med Genet A. 2015 Mar;167A(3):674-6. doi: 10.1002/ajmg.a.36905.
  2. Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Expanding the phenotypeassociated with 17q12 duplication: case report and review of the literature. Am JMed Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730.Review.
  3. Mefford H, Mitchell E, Hodge J. 17q12 Recurrent Duplication. 2016 Feb 25. 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/NBK344340/
  4. 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.
  5. Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S,Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, DigilioMC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA,Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE,Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC.Recurrent duplications of 17q12 associated with variable phenotypes. Am J MedGenet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351.
  6. 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.
  7. 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.
  8. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, PriceSM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C,Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. Discovery ofpreviously unidentified genomic disorders from the duplication architecture ofthe human genome. Nat Genet. 2006 Sep;38(9):1038-42.
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