Mosaic genome-wide paternal uniparental disomy

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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 Data version December 2023

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