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

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.