Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

BACKGROUND: Ring chromosome 2 is a rare constitutional abnormality that generally occurs de novo. About 14 cases have been described to date, but the vast majority of papers report exclusively conventional cytogenetic investigations and only two have been characterized by array-CGH. RESULTS: Here we...

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Detalles Bibliográficos
Autores principales: Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359793/
https://www.ncbi.nlm.nih.gov/pubmed/25774222
http://dx.doi.org/10.1186/s13039-015-0121-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359793/
https://www.ncbi.nlm.nih.gov/pubmed/25774222
http://dx.doi.org/10.1186/s13039-015-0121-z

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