Батькова уніпаретна дисомія хромосоми 1
ORPHA:251004· ICD-10 Q99.8· Paternal uniparental disomy of chromosome 1 syndrome
Визначення(English summary)
Paternal uniparental disomy of chromosome 1 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.
- Поширеність
- Unknown
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal