A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

Abstract Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alte...

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Bibliographic Details
Main Authors: Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai, Jie Chen
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Molecular Cytogenetics
Subjects:
Beckwith-wiedemann syndrome (BWS)
Chromosome 11p15.5
Paternal duplication
Single Nucleotide polymorphism (SNP) array analysis
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)
Online Access:https://doi.org/10.1186/s13039-021-00532-7

Internet

https://doi.org/10.1186/s13039-021-00532-7

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