Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

• Main Authors: Gregorio Serra (Author), Vincenzo Antona (Author), Mario Giuffrè (Author), Ettore Piro (Author), Sergio Salerno (Author), Ingrid Anne Mandy Schierz (Author), Giovanni Corsello (Author)
• Formato: Livro
• Publicado em: BMC, 2022-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathoge...