Maternal uniparental disomy of chromosome 22 syndrome
ORPHA:96188· ICD-10 Q99.8
Definition
Maternal uniparental disomy of chromosome 22 is 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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal