Taxon:

Human

Gene:

UPD

Chromosome:

12

Location:

Description:

A child with Type 3 (homozygous) von Willebrand disease had maternal uniparental isodisomy for chromosome 12. No other abnormal phenotypic features were reported (Boisseau P et al 2011).
A 2-year-old female proband that was diagnosed with hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) was found to be caused by maternal UPD of chromosome 12. Two mutated copies of the VDR gene were inherited (Tamura M et al 2015).

Paternal UPD 12 was detected in a child with sulfite oxidase deficiency (Cho SY et al 2013).

Category:

Disomy (UPD)

Record:

1290

Last Modified 1/20/2017

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