Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization

We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile...

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Detalles Bibliográficos
Autores principales: Linhares, Natália D., Valadares, Eugênia R., da Costa, Silvia S., Arantes, Rodrigo R., de Oliveira, Luiz Roberto, Rosenberg, Carla, Vianna-Morgante, Angela M., Svartman, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006134/
https://www.ncbi.nlm.nih.gov/pubmed/27617217
http://dx.doi.org/10.1016/j.mgene.2016.07.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006134/
https://www.ncbi.nlm.nih.gov/pubmed/27617217
http://dx.doi.org/10.1016/j.mgene.2016.07.004

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