Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Duplications of distal 8p with and without significant clinical phenotypes have been reported and are often associated with an unusual degree of structural complexity. Here, we present a duplication of 8p23.1–8p23.2 ascertained in a child with speech delay and a diagnosis of ICD-10 autism. The same...

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Hauptverfasser: Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K, Thomas, N Simon, Bunyan, David J, Jackson, Ann, Barber, John C K
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985953/
https://ncbi.nlm.nih.gov/pubmed/18716609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.133
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