Мозаїчна геномна батькова уніпарентна дисомія по всьому геному
ORPHA:329813· ICD-10 Q95.8· Mosaic genome-wide paternal uniparental disomy syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Antenatal, Neonatal