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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMC 2018-06-01
Sarja:Molecular Cytogenetics
Aiheet:
CCR
Familial
Paternal transmission
WG-MPS
Cryptic breakpoint
Reproductive problems
Linkit:http://link.springer.com/article/10.1186/s13039-018-0384-2
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