Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

BACKGROUND: Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of...

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Detalles Bibliográficos
Autores principales: Ciocca, Laura, Surace, Cecilia, Digilio, Maria Cristina, Roberti, Maria Cristina, Sirleto, Pietro, Lombardo, Antonietta, Russo, Serena, Brizi, Valerio, Grotta, Simona, Cini, Claudio, Angioni, Adriano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599180/
https://www.ncbi.nlm.nih.gov/pubmed/23398904
http://dx.doi.org/10.1186/1755-8794-6-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599180/
https://www.ncbi.nlm.nih.gov/pubmed/23398904
http://dx.doi.org/10.1186/1755-8794-6-3

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