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...

Descripción completa

Detalles Bibliográficos
Autores principales: Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, Roversi, Gaia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127936/
https://www.ncbi.nlm.nih.gov/pubmed/30202443
http://dx.doi.org/10.1186/s13039-018-0400-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127936/
https://www.ncbi.nlm.nih.gov/pubmed/30202443
http://dx.doi.org/10.1186/s13039-018-0400-6

Ejemplares similares