P722: Clinical features indicative of positive genetic test outcome in a series of prenatal cases of Beckwith-Wiedemann syndrome

Genetics in Medicine Open 2026 Open access

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Authors: Eden Yitna Teferedegn, Stacey R. Cohen, Aanya Chanda, Jennifer M. Kalish, Arupa A. Ganguly
DOI: 10.1016/j.gimo.2026.104214
Cited by: 0

Abstract

Beckwith-Wiedemann Syndrome (BWS) is a rare congenital overgrowth disorder characterized by a heterogeneous spectrum of clinical features, including macroglossia, omphalocele, lateralized overgrowth, and an increased risk of embryonal tumors. BWS arises from dysregulation of imprinted genes on chromosome 11p15.5, typically involving loss of methylation at imprinting control region 2 (IC2), gain of methylation at imprinting control region 1 (IC1), paternal uniparental disomy (pUPD), or pathogenic variants in CDKN1C.

Fields of Study & Subjects

Genetic Syndromes and Imprinting Prenatal Screening and Diagnostics Birth Development and Health

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104214–104214
Publication date
1 January 2026
Language
EN