8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting releva...

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Detalles Bibliográficos
Autores principales: Rincon, Alejandra, Paez-Rojas, Paola, Suárez-Obando, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348808/
https://www.ncbi.nlm.nih.gov/pubmed/30733878
http://dx.doi.org/10.1155/2019/7608348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348808/
https://www.ncbi.nlm.nih.gov/pubmed/30733878
http://dx.doi.org/10.1155/2019/7608348

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