Project description: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.
Project description:Analysis of COVID-19 hospitalized patients, with different kind of symptoms, by human rectal swabs collection and 16S sequencing approach.
