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

Pooja Palkar; Anahid Kabasakalian; Bonnie Taylor; Ellen Doernberg; Casara Jean Ferretti; Genoveva Uzunova; Eric Hollander

doi:10.5582/irdr.2016.01043

Letter

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

Pooja Palkar, Anahid Kabasakalian, Bonnie Taylor, Ellen Doernberg, Casara Jean Ferretti, Genoveva Uzunova, Eric Hollander

Author information

Pooja Palkar
Autism and Obsessive Compulsive Spectrum Program, Department of Psychiatry, Albert Einstein College of Medicine, Montefiore Medical Center
Anahid Kabasakalian
Autism and Obsessive Compulsive Spectrum Program, Department of Psychiatry, Albert Einstein College of Medicine, Montefiore Medical Center
Bonnie Taylor
Autism and Obsessive Compulsive Spectrum Program, Department of Psychiatry, Albert Einstein College of Medicine, Montefiore Medical Center
Ellen Doernberg
Autism and Obsessive Compulsive Spectrum Program, Department of Psychiatry, Albert Einstein College of Medicine, Montefiore Medical Center
Casara Jean Ferretti
Autism and Obsessive Compulsive Spectrum Program, Department of Psychiatry, Albert Einstein College of Medicine, Montefiore Medical Center
Genoveva Uzunova
Autism and Obsessive Compulsive Spectrum Program, Department of Psychiatry, Albert Einstein College of Medicine, Montefiore Medical Center
Eric Hollander
Autism and Obsessive Compulsive Spectrum Program, Department of Psychiatry, Albert Einstein College of Medicine, Montefiore Medical Center

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

JOURNAL FREE ACCESS

2016 Volume 5 Issue 3 Pages 235-237

DOI https://doi.org/10.5582/irdr.2016.01043

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Abstract

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.

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