Potocki-Shaffer Syndrome

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Xu, R. Potocki-Shaffer Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5420 (accessed on 21 September 2026).

Xu R. Potocki-Shaffer Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5420. Accessed September 21, 2026.

Xu, Rita. "Potocki-Shaffer Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5420 (accessed September 21, 2026).

Xu, R. (2020, December 24). Potocki-Shaffer Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5420

Xu, Rita. "Potocki-Shaffer Syndrome." Encyclopedia. Web. 24 December, 2020.

Potocki-Shaffer Syndrome

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

Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues.

genetic conditions

References

Hall CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndromeassociated with microdeletion of EXT2 and ALX4. Clin Genet. 2001 Nov;60(5):356-9.
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, KjaergaardS, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME,Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N,Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disruptingPHF21A in the Potocki-Shaffer-syndrome region are associated with intellectualdisability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13;91(1):56-72.doi: 10.1016/j.ajhg.2012.05.005.
Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2associated with developmental delay and hypotonia. Am J Med Genet A. 2013Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671.
Romeike BF, Wuyts W. Proximal chromosome 11p contiguous gene deletion syndromephenotype: case report and review of the literature. Clin Neuropathol. 2007Jan-Feb;26(1):1-11. Review.
Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD,Shaffer LG, Potocki L. Potocki-Shaffer syndrome: comprehensive clinicalassessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010 Mar;152A(3):565-72. doi: 10.1002/ajmg.a.33245. Review.
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC,Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction ofa natural panel of 11p11.2 deletions and further delineation of the criticalregion involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005May;13(5):528-40.
Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O.Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinicaland molecular aspects. Eur J Hum Genet. 2004 May;12(5):400-6. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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