Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

We report on a patient with early onset pediatric bilateral pheochromocytomas caused by mosaic chromosome 11p15 paternal uniparental isodisomy (UPD). Hemihyperplasia of the arm was diagnosed in a 4-month-old female and clinical methylation testing for 11p15 in the blood was normal, with a reported d...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Kalish, Jennifer M., Conlin, Laura K., Mostoufi-Moab, Sogol, Wilkens, Alisha B., Mulchandani, Surabhi, Zelley, Kristin, Kowalski, Megan, Bhatti, Tricia R., Russo, Pierre, Mattei, Peter, Mackenzie, William G., LiVolsi, Virginia, Nichols, Kim E., Biegel, Jaclyn A., Spinner, Nancy B., Deardorff, Matthew A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4063309/
https://ncbi.nlm.nih.gov/pubmed/23532898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35831
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados