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...

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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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2013
Ábhair:
Article
Rochtain Ar Líne: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
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