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

• 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.
• Subjects: article
• Online Access: Connect to this object online.

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...