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

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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Bibliographic Details
Main Authors: Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani, Thomas Haaf
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Medical Genomics
Subjects:
Familial Beckwith-Wiedemann syndrome
Copy number variation
Duplication-deficiency
Genomic imprinting
Submicroscopic chromosome rearrangement
Reciprocal translocation
Online Access:http://link.springer.com/article/10.1186/s12920-019-0539-y

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