Maternal uniparental disomy of chromosome 6 syndrome
ORPHA:96181· ICD-10 Q99.8
Definition
Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal