Article
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
European journal of medical genetics - 1 Jun 2012
Bijlsma E K, Collins A, Papa F T, Tejada M I, Wheeler P, Peeters E A J, Gijsbers A C J, van de Kamp J M, Kriek M, Losekoot M, Broekma A J, Crolla J A, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri M I, Marozza A, Mencarelli M A, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella M P, Gener B, Mínguez M, Renieri A, Ruivenkamp C A L
Abstract excerpt
Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. Female patients with Xq duplications including MECP2 are rare. Only recently...
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