Paternal uniparental disomy of chromosome 21

Paternal uniparental disomy of chromosome 21

Definition

Paternal uniparental disomy of chromosome 21 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 21, UPD(21)pat — per MONDO

Also identified as