GEOapplication/xmlftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE326nnn/GSE326179/primaryOK200GenomicsHomo sapiensGenome variation profiling by SNP arrayhttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE326179GEOGSEfalseBeckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomyPatients 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.2026/04/04GSE326179GSM9624659GSM962466016131326179Homo sapiens