Maternal uniparental disomy of chromosome 1

MONDO:0016651

Maternal uniparental disomy of chromosome 1 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: UPD(1)mat, maternal uniparental disomy of chromosome type 1

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