Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
body asymmetry
paternal uniparental disomy
syndrome
tumors
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
08
11
2018
revised:
01
03
2019
accepted:
05
03
2019
pubmed:
19
3
2019
medline:
21
12
2019
entrez:
19
3
2019
Statut:
ppublish
Résumé
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.
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e27715Informations de copyright
© 2019 The Authors. Pediatric Blood & Cancer Published by Wiley Periodicals, Inc.