Multiple tumors due to mosaic genome-wide paternal uniparental disomy
Publication date
2019-06-01
Authors
Postema, Floor A.M.
Bliek, Jet
van Noesel, Carel J.M.
van Zutven, Laura J.C.M.
Oosterwijk, Jan C.
Hopman, Saskia
Merks, Johannes H.M.
Hennekam, Raoul C.
Editors
Advisors
Supervisors
Document Type
Article
Metadata
Show full item recordCollections
License
Abstract
Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith–Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumors throughout life. Routine molecular diagnostics may not detect the (characteristic) low level of mosaicism, and the diagnosis is likely to be missed. Genetic counseling and a life-long alertness for the development of tumors is indicated. We describe the long diagnostic process of a patient who already had a tumor at birth and developed multiple tumors in childhood and adulthood. Furthermore, we offer clues to recognize the entity.
Keywords
Adult, Beckwith-Wiedemann Syndrome/diagnosis, Chromosomes, Human/genetics, Female, Genome-Wide Association Study, Genomic Imprinting, Genotype, Humans, Infant, Newborn, Male, Mosaicism, Neoplasms/classification, Polymorphism, Single Nucleotide, Prognosis, Uniparental Disomy/diagnosis, Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Citation
Postema, F A M, Bliek, J, van Noesel, C J M, van Zutven, L J C M, Oosterwijk, J C, Hopman, S M J, Merks, J H M & Hennekam, R C 2019, 'Multiple tumors due to mosaic genome-wide paternal uniparental disomy', Pediatric Blood and Cancer, vol. 66, no. 6, 27715. https://doi.org/10.1002/pbc.27715