Материнська уніпарентна дисомія хромосоми 21
ORPHA:96187· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 21 syndrome
Визначення(English summary)
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
- Поширеність
- <1 / 1 000 000