Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

Abstract excerpt

The case of a 15-year-old male with Angelman syndrome, paternal uniparental disomy of chromosome 15, and a small supernumerary marker chromosome is discussed. Assessment of cognitive functioning revealed an uneven profile of ability across different domains; in particular, receptive language abil...

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