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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Mosaic genome-wide paternal uniparental disomy?
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Rare Chromosome Disorder Support Group – Unique
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