Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Phelan–McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a cli...

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Detalles Bibliográficos
Autores principales: Ochando, Isabel, Urbano, Antonio, Rubio, Juana, Rueda, Joaquín
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681196/
https://www.ncbi.nlm.nih.gov/pubmed/23776384
http://dx.doi.org/10.2147/TACG.S35799

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681196/
https://www.ncbi.nlm.nih.gov/pubmed/23776384
http://dx.doi.org/10.2147/TACG.S35799

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