Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy

The partial trisomy 13q.22 is an uncommon chromosomopathy. We present a case with a partial trisomic component 13q22 and a monosomic component 5p15 from paternal origin. This patient developed early menopause and major neurological disorders as leukoencephalopathy, late onset generalised epilepsy an...

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Detalles Bibliográficos
Autores principales: Ribacoba, Renee, Menendez-Gonzalez, Manuel, Hernando, Ines, Salas, Javier, Giros, Maria Luisa
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2391148/
https://www.ncbi.nlm.nih.gov/pubmed/18471271
http://dx.doi.org/10.1186/1755-7682-1-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2391148/
https://www.ncbi.nlm.nih.gov/pubmed/18471271
http://dx.doi.org/10.1186/1755-7682-1-5

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