Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy

BACKGROUND: Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. RESULTS: Here we describe a patient with ep...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Tassano, Elisa, De Santis, Lucia Rosaia, Corona, Maria Franca, Parmigiani, Stefano, Zanetti, Dalila, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4335438/
https://ncbi.nlm.nih.gov/pubmed/25705258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0115-x
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