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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Palkar, Pooja, Kabasakalian, Anahid, Taylor, Bonnie, Doernberg, Ellen, Ferretti, Casara Jean, Uzunova, Genoveva, Hollander, Eric
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2016
Assuntos:
Letter
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados