Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.

ABSTRACT:

Background

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by various clinical features. The purpose of this study was to investigate the molecular diagnostic and clinical features of BWS in Chinese pediatric patients.

Methods

This retrospective study reviewed the clinical data of 24 pediatric patients diagnosed with BWS at the Guangzhou Women and Children's Medical Center, Guangzhou Medical University from 2014 to 2024. To assess genetic abnormalities, molecular analysis was performed using array comparative genomic hybridization (Array-CGH) as well as methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA).

Results

With a range of fetal period to four years, the median age at diagnosis was nine months. Cardinal features

SUBMITTER: Wu Z 

PROVIDER: S-EPMC12433120 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature