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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove Medical Press
2012
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| Materias: | |
| 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 |