Taxon:

Human

Gene:

"UPD"

Chromosome:

02

Location:

Description:

Several cases of maternal UPD have been reported. Two phenotypically normal patients with maternal UPD (isodisomy of 2p and heterodisomy of 2q in one case and two isochromosomes in the other) appear to exclude the presence of developmentally important imprinted genes on chromosome 2 (Heide E et al, 2000, Bernasconi F et al, 1996). Other reports of maternal UPD include patients with congenital abnormalities (Shaffer LG et al, 1997), congenital hypothyroidism (Bakker et al, 2001), Primary hyperoxaluria type I (Chevalier-Porst F et al, 2005), Infantile-onset ascending spastic paralysis (Herzfeld T et al, 2009). A case of maternal UPD revealed mutations in two separate genes in a 3-year-old Chinese boy with obesity and developmental delay (Yu T et al, 2016).

Several cases of paternal UPD have been reported. These include Donnai-Barrow syndrome (Kantarci S et al, 2008) , Crigler-Najjar type I syndrome (Petit FM et al, 2005), harlequin icthyosis (Castiglia D et al, 2009), 5alpha-reductase 2 deficiency (Chavez B et al, 2000), and retinal dystrophy (Thomson DA et al, 2002), 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (Baskin B et al, 2010).

The absence of clinical features, other than those of the unmasked recessive disorders, suggests that chromosome 2 does not contain developmentally important imprinted genes.

Category:

Disomy (UPD)

Record:

7

Last Modified 1/16/2017

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