Article
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Clinical genetics - 1 Apr 2017
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 A-L, Mugneret F, Le Meur N, Goldenberg A, Guerrot A-M, Chambon P, Satre V, Coutton C, Jouk P-S, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard M-L, Addor M-C, Lebon S, Martinet D, Alessandri J-L, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet A-C, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L
Abstract excerpt
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the...
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