Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

BACKGROUND: DiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-allelic homologous recombination (NAHR) events leading to rearrangements. This study sought to identify DGS/VCFS fathers w...

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Detalles Bibliográficos
Autores principales: Vergés, Laia, Molina, Òscar, Geán, Esther, Vidal, Francesca, Blanco, Joan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247602/
https://www.ncbi.nlm.nih.gov/pubmed/25435913
http://dx.doi.org/10.1186/s13039-014-0086-3

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