Maternal uniparental disomy of chromosome 13
Maternal uniparental disomy of chromosome 13
Definition
Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do 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 13, UPD(13)mat — per MONDO