Taxon:

Human

Gene:

UPD

Chromosome:

03

Location:

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.

Category:

Disomy (UPD)

Record:

1240

Last Modified 5/3/2010

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