Maternal uniparental disomy of chromosome 9

Maternal uniparental disomy of chromosome 9

Definition

Maternal uniparental disomy of chromosome 9 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 9, UPD(9)mat — per MONDO

Also identified as