Материнська уніпарентна дисомія хромосоми 1
ORPHA:251009· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 1 syndrome
Визначення(English summary)
Maternal uniparental disomy of chromosome 1 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.
- Поширеність
- Unknown
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal