TY - JOUR
T1 - Multiple tumors due to mosaic genome-wide paternal uniparental disomy
AU - Postema, Floor A. M.
AU - Bliek, Jet
AU - van Noesel, Carel J. M.
AU - van Zutven, Laura J. C. M.
AU - Oosterwijk, Jan C.
AU - Hopman, Saskia M. J.
AU - Merks, Johannes H. M.
AU - Hennekam, Raoul C.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - body asymmetry
KW - paternal uniparental disomy
KW - syndrome
KW - tumors
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85064566621&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30882989
U2 - https://doi.org/10.1002/pbc.27715
DO - https://doi.org/10.1002/pbc.27715
M3 - Article
C2 - 30882989
SN - 1545-5009
VL - 66
JO - Pediatric Blood and Cancer
JF - Pediatric Blood and Cancer
IS - 6
M1 - e27715
ER -