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Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

Abstract Background The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy, copy number variations, and structural rearrangements. In addition, m...

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Main Authors: Caroline Lekszas (Author), Indrajit Nanda (Author), Barbara Vona (Author), Julia Böck (Author), Farah Ashrafzadeh (Author), Nahid Donyadideh (Author), Farnoosh Ebrahimzadeh (Author), Najmeh Ahangari (Author), Reza Maroofian (Author), Ehsan Ghayoor Karimiani (Author), Thomas Haaf (Author)
Format: Book
Published: BMC, 2019-06-01T00:00:00Z.
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