Maternal uniparental disomy of chromosome 6
Maternal uniparental disomy of chromosome 6
Definition
Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
Also known as maternal uniparental disomy of chromosome type 6, UPD(6)mat — per MONDO