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

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...

Source: BMC Medical Genomics - June 7, 2019 Category: Genetics & Stem Cells Authors: Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia B öck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani and Thomas Haaf Tags: Case report Source Type: research