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Article

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.

American journal of medical genetics. Part A - 1 May 2013

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

Abstract excerpt

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 detection threshold for mosaicism of 20%. She was subsequently diagnosed at 18 months with bilateral...

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Share to Beckwith-Wiedemann Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23532898
DOI: 10.1002/ajmg.a.35831
PMCID: PMC4063309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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