Potocki-Lupski Syndrome

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Xu, R. Potocki-Lupski Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5413 (accessed on 21 September 2026).

Xu R. Potocki-Lupski Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5413. Accessed September 21, 2026.

Xu, Rita. "Potocki-Lupski Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5413 (accessed September 21, 2026).

Xu, R. (2020, December 24). Potocki-Lupski Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5413

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

Potocki-Lupski Syndrome

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

Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.

genetic conditions

References

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y,Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Definition of a criticalgenetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399.
Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, PotockiL. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupskisyndrome. Am J Med Genet A. 2014 Feb;164A(2):500-4. doi: 10.1002/ajmg.a.36287.
Neira-Fresneda J, Potocki L. Neurodevelopmental Disorders Associated withAbnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J PediatrGenet. 2015 Sep;4(3):159-67. doi: 10.1055/s-0035-1564443.Review.
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM,Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) anddelineation of a dosage-sensitive critical interval that can convey an autismphenotype. Am J Hum Genet. 2007 Apr;80(4):633-49.
Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecularmechanism for duplication 17p11.2- the homologous recombination reciprocal of theSmith-Magenis microdeletion. Nat Genet. 2000 Jan;24(1):84-7.
Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F,Lupski JR, Fraley JK, Potocki L. Potocki-Lupski syndrome: a microduplicationsyndrome associated with oropharyngeal dysphagia and failure to thrive. JPediatr. 2011 Apr;158(4):655-659.e2. doi: 10.1016/j.jpeds.2010.09.062.
Treadwell-Deering DE, Powell MP, Potocki L. Cognitive and behavioralcharacterization of the Potocki-Lupski syndrome (duplication 17p11.2). J DevBehav Pediatr. 2010 Feb-Mar;31(2):137-43. doi: 10.1097/DBP.0b013e3181cda67e.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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