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Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9.

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

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Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.


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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