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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