Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

BACKGROUND: Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis. CASE PRESENTATION: We described two families with copy number gain in which FISH analysis with the specific subtelomeric pro...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, Roversi, Gaia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6127936/
https://ncbi.nlm.nih.gov/pubmed/30202443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0400-6
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