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

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, maternal...

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Detalles Bibliográficos
Autores principales: Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555757/
https://www.ncbi.nlm.nih.gov/pubmed/31174542
http://dx.doi.org/10.1186/s12920-019-0539-y

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