16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2–p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual disability,...

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Détails bibliographiques
Auteurs principaux: Barber, John C K, Hall, Victoria, Maloney, Viv K, Huang, Shuwen, Roberts, Angharad M, Brady, Angela F, Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas, Mehnert, Karl, Bateman, Mark, White, Helen
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2013
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548261/
https://ncbi.nlm.nih.gov/pubmed/22828807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.144
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