Материнська уніпарентна дисомія хромосоми 9
ORPHA:96183· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 9 syndrome
Визначення(English summary)
Maternal uniparental disomy of chromosome 9 is a 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