Paternal uniparental disomy of chromosome 1
Paternal uniparental disomy of chromosome 1
Definition
Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Also known as paternal uniparental disomy of chromosome type 1, UPD(1)pat — per MONDO