Article

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

2021-01-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>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 alterations is required for accurate diagnosis of BWS.<bold>Case presentation: </bold>We...

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Literature Corpus work: 540a2ab6-7c5f-56bc-8c7b-30deac8372d1
DOI: 10.21203/rs.3.rs-116725/v2

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