Genetic Conditions > 16p11.2 deletion syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on 16p11.2 deletion syndrome.

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, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21. PubMed citation
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 individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15. PubMed citation
Gene Review: 16p11.2 Microdeletion
Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet A. 2007 Jul 1;143A(13):1462-71. PubMed citation
Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM. Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. Am J Med Genet A. 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042. PubMed citation
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 microdeletions in autism. Hum Mol Genet. 2008 Feb 15;17(4):628-38. Epub 2007 Dec 21. PubMed citation
Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T. A familial 593-kb microdeletion 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. Epub 2009 Sep 19. PubMed citation
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 and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9. PubMed citation


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