Материнська уніпарентна дисомія хромосоми 2
ORPHA:96179· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 2 syndrome
Визначення(English summary)
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
- Вік початку
- Antenatal, Neonatal