Maternal uniparental disomy of chromosome 1
Maternal uniparental disomy of chromosome 1
Definition
Maternal uniparental disomy of chromosome 1 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 1, UPD(1)mat — per MONDO