Paternal Transmission of Angelman Syndrome via a Mosaic sSMC(15): A Rare Case of Germline Epigenetic Reset Failure and Somatic Rescue.
A pedigree in which a neurotypical father transmitted AS to multiple offspring via a structural mechanism distinct from UPD is reported, highlighting the role of sSMCs in masking pathogenic deletions and underscores the diagnostic importance of high-resolution genomic mapping in cases of atypical imprinting transmission.