Mosaic genome-wide paternal uniparental disomy
Synonyms: Androgenetic/biparental mosaicism | Genome-wide paternal uniparental disomy mosaicism | Mosaic genome-wide paternal UPD
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition features of Angelman syndrome and transient neonatal diabetes might be expected.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Mosaic genome-wide paternal uniparental disomy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.