Батькова уніпарентна дисомія хромосоми 21
ORPHA:96195· ICD-10 Q99.8· Paternal uniparental disomy of chromosome 21 syndrome
Визначення(English summary)
Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
- Вік початку
- Antenatal, Neonatal