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Updated: Jun 14, 2026

Behavioral Characterization of an Angelman Syndrome Mouse Model
Published on: October 20, 2023
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Tuva Barøy1, Doriana Misceo, Oivind Braaten
1Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.
Abstract:
We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus broadening the phenotypic spectrum associated with the 15q13.3 microdeletion syndrome.
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