Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

Background: Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genetically heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome 11p15.4p15.5. There is no consensus criterion for prenatal diagnosis of BWS. Methods: Three BWS patients with their clinical histories...

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Bibliographic Details
Main Authors: Gwo-Chin Ma, Tze-Ho Chen, Wan-Ju Wu, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Diagnostics
Subjects:
BWS
ultrasonography
imprinting
uniparental disomy
MS-MLPA
ICR1
Online Access:https://www.mdpi.com/2075-4418/12/7/1709

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https://www.mdpi.com/2075-4418/12/7/1709

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