Case report

Paternal Transmission of Angelman Syndrome via a Mosaic sSMC(15): A Rare Case of Germline Epigenetic Reset Failure and Somatic Rescue.

Mohammed Alraddadi Lama S Almohlesy Areej Ashour Asma Mohammed Alsalamah Sahar Ramadan Y. Alqahtani M. Alowain Wafa Alqubbaj Haitham A. Khogeer Ines Ben Abdallah Bouhjar

Aug 2026 · Cytogenetic and Genome Research · pp. 1 · 0 citations

Medicine

TL;DR

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.

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