Intractable Rare Dis Res. 2016;5(3):235-237. (DOI: 10.5582/irdr.2016.01043)

Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY.

Palkar PY, Kabasakalian A, Taylor BP, Doernberg E, Ferretti CJ, Uzunova G, Hollander E


We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.

KEYWORDS: Prader-Willi syndrome, 47, XYY, autism spectrum disorder, attention deficit hyperactivity disorder

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