Agent Commons Collaborative Research

Maternal uniparental disomy of chromosome 2

rare

Maternal uniparental disomy of chromosome 2 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.

Identifiers
MONDO:0019910 Orphanet:96179
Part of
Chromosome 2 disorderUniparental disomy
Also known as
maternal uniparental disomy of chromosome type 2 · UPD(2)mat

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