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Yang, C. 5q31.3 Microdeletion Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4223 (accessed on 27 September 2026).
Yang C. 5q31.3 Microdeletion Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4223. Accessed September 27, 2026.
Yang, Catherine. "5q31.3 Microdeletion Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4223 (accessed September 27, 2026).
Yang, C. (2020, December 23). 5q31.3 Microdeletion Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4223
Yang, Catherine. "5q31.3 Microdeletion Syndrome." Encyclopedia. Web. 23 December, 2020.
5q31.3 Microdeletion Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/5q313-microdeletion-syndrome

5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.

genetic conditions

References

  1. Bonaglia MC, Zanotta N, Giorda R, D'Angelo G, Zucca C. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi:10.1186/s13039-015-0193-9.
  2. Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, StarkZ. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013 Oct;161A(10):2604-8. doi:10.1002/ajmg.a.36108.
  3. Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA,Scaglia F, Jones JY, Niikawa N, Saitoh S. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug;158A(8):1891-6.doi: 10.1002/ajmg.a.35439.
  4. Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T. A new microdeletion syndrome of 5q31.3 characterized by severe developmentaldelays, distinctive facial features, and delayed myelination. Am J Med Genet A.2011 Apr;155A(4):732-6. doi: 10.1002/ajmg.a.33891.Am J Med Genet A. 2011 Nov;155A(11):2903.
  5. White MK, Johnson EM, Khalili K. Multiple roles for Puralpha in cellular andviral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 924
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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