Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

Ring chromosome 20 [r(20)] syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly seen in a mosaic state and is diagnosed by means of karyotyping. r(20) syndrome is characterized by a recognizable epileptic phenotype with...

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Detalles Bibliográficos
Autores principales: Peron, Angela, Catusi, Ilaria, Recalcati, Maria Paola, Calzari, Luciano, Larizza, Lidia, Vignoli, Aglaia, Canevini, Maria Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7753021/
https://www.ncbi.nlm.nih.gov/pubmed/33363513
http://dx.doi.org/10.3389/fneur.2020.613035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7753021/
https://www.ncbi.nlm.nih.gov/pubmed/33363513
http://dx.doi.org/10.3389/fneur.2020.613035

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