Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Abstract Background Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. Case presentation We present a family, where the non-affected father...

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Detalhes bibliográficos
Main Authors: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-06-01
Colecção:Molecular Cytogenetics
Assuntos:
CCR
Familial
Paternal transmission
WG-MPS
Cryptic breakpoint
Reproductive problems
Acesso em linha:http://link.springer.com/article/10.1186/s13039-018-0384-2
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