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Yang, C. 16p11.2 deletion syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/3916 (accessed on 25 September 2026).
Yang C. 16p11.2 deletion syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/3916. Accessed September 25, 2026.
Yang, Catherine. "16p11.2 deletion syndrome" Encyclopedia, https://encyclopedia.pub/entry/3916 (accessed September 25, 2026).
Yang, C. (2020, December 23). 16p11.2 deletion syndrome. In Encyclopedia. https://encyclopedia.pub/entry/3916
Yang, Catherine. "16p11.2 deletion syndrome." Encyclopedia. Web. 23 December, 2020.
16p11.2 deletion syndrome
Edit

16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.

 

genetic conditions

References

  1. Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B,Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, HordijkR, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, BreuningMH, Ruivenkamp CA. Extending the phenotype of recurrent rearrangements of16p11.2: deletions in mentally retarded patients without autism and in normalindividuals. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi:10.1016/j.ejmg.2009.03.006.
  2. Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC,Kučinskas V. Mental retardation and autism associated with recurrent 16p11.2microdeletion: incomplete penetrance and variable expressivity. J Appl Genet.2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z.
  3. Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P,Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S,Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individualsascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369.
  4. Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizuredisorder, and mild mental retardation. Am J Med Genet A. 2007 Jul1;143A(13):1462-71.
  5. Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV,Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT,Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL,Ledbetter DH, Spiro JE, Chung WK; Simons Variation in Individuals ProjectConsortium. The cognitive and behavioral phenotype of the 16p11.2 deletion in aclinically ascertained population. Biol Psychiatry. 2015 May 1;77(9):785-93. doi:10.1016/j.biopsych.2014.04.021.
  6. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC,Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletionsin autism. Hum Mol Genet. 2008 Feb 15;17(4):628-38.
  7. Miller DT, Chung W, Nasir R, Shen Y, Steinman KJ, Wu BL, Hanson E. 16p11.2Recurrent Microdeletion. 2009 Sep 22 [updated 2015 Dec 10]. In: Adam MP, ArdingerHH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK11167/
  8. Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T. A familial 593-kbmicrodeletion of 16p11.2 associated with mental retardation and hemivertebrae.Eur J Med Genet. 2009 Nov-Dec;52(6):433-5. doi: 10.1016/j.ejmg.2009.09.007.
  9. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E,Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D,Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL,Daly MJ; Autism Consortium. Association between microdeletion andmicroduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974.
  10. Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A,Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S,Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV,Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. A 600 kbdeletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatricdisorders. J Med Genet. 2012 Oct;49(10):660-8. doi:10.1136/jmedgenet-2012-101203. Erratum in: J Med Genet. 2014 Jul;51(7):478.
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