Maternal uniparental disomy of chromosome 2
Maternal uniparental disomy of chromosome 2
Definition
Maternal uniparental disomy of chromosome 2 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.
Also known as maternal uniparental disomy of chromosome type 2, UPD(2)mat — per MONDO