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Report of a New Case of Pentasomy X Revealed by Status Epilepticus

This report describes an exceptional case of X (49, XXXXX) pentasomy in a girl aged three years and five months. She was admitted for recurrent seizures revealing epilepsy. She has growth failure and psychomotor retardation with a deformed face. The malformative assessment did not show any malformat...

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Detalles Bibliográficos
Autores principales: Chekhlabi, Nabila, Haoudar, Amal, Hamdaoui, Hasna, Dini, Nezha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8330396/
https://www.ncbi.nlm.nih.gov/pubmed/34367739
http://dx.doi.org/10.7759/cureus.16062