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

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 and da...

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Podrobná bibliografie
Vydáno v:Mol Cytogenet
Hlavní autoři: Aristidou, Constantia, Theodosiou, Athina, Ketoni, Andria, Bak, Mads, Mehrjouy, Mana M., Tommerup, Niels, Sismani, Carolina
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5991433/
https://ncbi.nlm.nih.gov/pubmed/29930709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0384-2
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