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Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy

ABSTRACT: Patients with genome-wide paternal uniparental disomy (GWpUPD) usually exhibit clinical features of Beckwith-Wiedemann syndrome (BWS) and a 46,XX karyotype, with all chromosomes showing isodisomy. Here, we report the case of a boy with classical BWS features harboring a 46,XY karyotype. Genetic analysis of autosomes and sex chromosomes revealed two distinct paternal genomes in peripheral blood leukocytes, whereas a normal biparental genome was detected in oral swabs under chimeric conditions. These findings indicated that the patient had genome-wide paternal uniparental heterodisomy (GWpUPhD). To our knowledge, this is the first reported case of a GWpUPhD chimera with a 46,XY karyotype. We therefore propose a potential mechanism underlying this phenomenon.

ORGANISM(S): Homo sapiens

PROVIDER: GSE326179 | GEO | 2026/04/04

REPOSITORIES: GEO

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