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).