Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and the carrier mothers show nonrandom X chromosome in...

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Main Authors: Vandewalle, Joke, Van Esch, Hilde, Govaerts, Karen, Verbeeck, Jelle, Zweier, Christiane, Madrigal, Irene, Mila, Montserrat, Pijkels, Elly, Fernandez, Isabel, Kohlhase, Jürgen, Spaich, Christiane, Rauch, Anita, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2790561/
https://ncbi.nlm.nih.gov/pubmed/20004760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.10.019
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