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Xu, C. MECP2 Duplication Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4555 (accessed on 29 September 2026).
Xu C. MECP2 Duplication Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4555. Accessed September 29, 2026.
Xu, Camila. "MECP2 Duplication Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4555 (accessed September 29, 2026).
Xu, C. (2020, December 24). MECP2 Duplication Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4555
Xu, Camila. "MECP2 Duplication Syndrome." Encyclopedia. Web. 24 December, 2020.
MECP2 Duplication Syndrome
Edit

MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability.

genetic conditions

References

  1. El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL,Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C,Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC,Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C,Perreton N, Des Portes V, Faivre L. Xq28 duplication including MECP2 in sixunreported affected females: what can we learn for diagnosis and geneticcounselling? Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898.
  2. Gonzales ML, LaSalle JM. The role of MeCP2 in brain development andneurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34. doi:10.1007/s11920-010-0097-7. Review.
  3. Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: from the clinic to mice andback. J Clin Invest. 2015 Aug 3;125(8):2914-23. doi: 10.1172/JCI78167.
  4. Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A,Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM,Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, VanEsch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% ofmale patients with severe encephalopathy. Eur J Hum Genet. 2009 Apr;17(4):444-53.doi: 10.1038/ejhg.2008.208.May;17(5):697.
  5. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatricsymptoms are prevalent in individuals with MeCP2 duplication syndrome. AnnNeurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715.
  6. Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y. Chromosome Xq28 duplicationencompassing MECP2: Clinical and molecular analysis of 16 new patients from 10families in China. Eur J Med Genet. 2016 Jun;59(6-7):347-53. doi:10.1016/j.ejmg.2016.05.004.
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Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
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Update Date: 24 Dec 2020
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