Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814410 | European Journal of Medical Genetics | 2010 | 4 Pages |
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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Authors
Tuva Barøy, Doriana Misceo, Øivind Braaten, Johan R. Helle, Madeleine Fannemel, Petter Strømme, Eirik Frengen,