Maternal uniparental disomy of chromosome 4
Maternal uniparental disomy of chromosome 4
Definition
Maternal uniparental disomy of chromosome 4 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 4, UPD(4)mat — per MONDO