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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Publicat a:Mol Cytogenet
Autors principals: Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4359793/
https://ncbi.nlm.nih.gov/pubmed/25774222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0121-z
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