De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

Abstract Background The molecular etiology of Beckwith-Wiedemann syndrome (BWS) is complex and heterogeneous. Several subtypes of epigenetic-genetic alterations including aberrant methylation patterns, segmental uniparental disomy, single gene mutations, and copy number changes have been described....

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Bibliographic Details
Main Authors: Qin Wang, Qian Geng, Qinghua Zhou, Fuwei Luo, Peining Li, Jiansheng Xie
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Molecular Cytogenetics
Subjects:
Beckwith–Wiedemann syndrome (BWS)
Chromosome 11p15.5
Imprinting centers (IC)
Paternal duplication
Chromosomal microarray analysis(CMA)
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)
Online Access:http://link.springer.com/article/10.1186/s13039-017-0347-z

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http://link.springer.com/article/10.1186/s13039-017-0347-z

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