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

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 feat...

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Bibliografiske detaljer
Udgivet i:Intractable Rare Dis Res
Main Authors: Palkar, Pooja, Kabasakalian, Anahid, Taylor, Bonnie, Doernberg, Ellen, Ferretti, Casara Jean, Uzunova, Genoveva, Hollander, Eric
Format: Artigo
Sprog:Inglês
Udgivet: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2016
Fag:
Letter
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4995422/
https://ncbi.nlm.nih.gov/pubmed/27672550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01043
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