Description: Three cases of uniparental disomy of chromosome 3 have been reported (Hoffman
TL et al, 2007; Xiao P et al, 2006; Fassihi H
et al, 2006). In all three cases the patients presented as homozygotes for rare mutations, with no additional phenotype
resulting from isodisomy of chromosome 3. Isodisomy for either the paternal or the maternal chromosome has been reported,
indicating that there are no developmentally important imprinted genes on chromosome 3.