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Multiple tumors due to mosaic genome‐wide paternal uniparental disomy
Author(s) -
Postema Floor A.M.,
Bliek Jet,
Noesel Carel J.M.,
Zutven Laura J.C.M.,
Oosterwijk Jan C.,
Hopman Saskia M. J.,
Merks Johannes H. M.,
Hennekam Raoul C.
Publication year - 2019
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27715
Subject(s) - uniparental disomy , medicine , mosaic , omim : online mendelian inheritance in man , genetic counseling , genetic disorder , pediatrics , genetics , pathology , disease , biology , karyotype , chromosome , gene , phenotype , history , archaeology
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.