Mosaic genome-wide paternal uniparental disomy syndrome
ORPHA:329813· ICD-10 Q95.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal