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

Research output: Contribution to journalLetter

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.

Original languageEnglish (US)
Pages (from-to)235-237
Number of pages3
JournalIntractable and Rare Diseases Research
Volume5
Issue number3
DOIs
Publication statusPublished - 2016

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Keywords

  • 47
  • Attention deficit hyperactivity disorder
  • Autism spectrum disorder
  • Prader-Willi syndrome
  • XYY

ASJC Scopus subject areas

  • Medicine(all)

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