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

この記事には本公開記事があります。本公開記事を参照してください。
引用する場合も本公開記事を引用してください。

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

著者情報

キーワード: Prader-Willi syndrome, 47, XYY, autism spectrum disorder, attention deficit hyperactivity disorder

ジャーナルフリー早期公開

論文ID: 2016.01043

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

この記事には本公開記事があります。

The final version of this article is now available: Vol. 5 (2016), No. 3 pp. 235-237

詳細

抄録

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.

責任著者(Corresponding author)

J-STAGEへの登録はこちら（無料）