Jacobsen Syndrome

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Xu, C. Jacobsen Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4189 (accessed on 22 September 2026).

Xu C. Jacobsen Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4189. Accessed September 22, 2026.

Xu, Camila. "Jacobsen Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4189 (accessed September 22, 2026).

Xu, C. (2020, December 23). Jacobsen Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4189

Xu, Camila. "Jacobsen Syndrome." Encyclopedia. Web. 23 December, 2020.

Jacobsen Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/jacobsen-syndrome

Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.

genetic conditions

References

Akshoomoff N, Mattson SN, Grossfeld PD. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. GenetMed. 2015 Feb;17(2):143-8. doi: 10.1038/gim.2014.86.
Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, IvyDD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD. Chromosomalmicroarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).Neurogenetics. 2009 Apr;10(2):89-95. doi: 10.1007/s10048-008-0157-x.
Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: Advances inour knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015Sep;169(3):239-50. doi: 10.1002/ajmg.c.31448.
Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. The 11qterminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A.2004 Aug 15;129A(1):51-61.
Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis.2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Review.
Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, et al. Clinical and molecularcharacterization of patients with distal 11q deletions. Am J Hum Genet. 1995Mar;56(3):676-83.
Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA,Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, VanallenMI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM,Rajcan-Separovic E. Submicroscopic deletions of 11q24-25 in individuals withoutJacobsen syndrome: re-examination of the critical region by high-resolutionarray-CGH. Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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