Taxon:

Human

Gene:

"UPD"

Chromosome:

17

Location:

Description:

A case of complete maternal isodisomy of 17 has been reported in a boy with normal postnatal development (Genuardi M et al, 1999).
A case of partial non-mosaic maternal heterodisomy of 17q25.3 in a boy with severe developmental delay and facial dysmorphism, suggests the possibility of genomic imprinting within this small region (Rio M et al, 2001).
A case of maternal UPD of chromosome 17 was reported in a patient with nephropathic cystinosis. The proband was homozygous for a 57kb deletion that covers the CTNS gene (Lebre AS et al 2009).
A patient with seizures, bruxism and global developmental delay was found to have complete maternal isodisomy of chromosome 17 (King DA et al 2014).

Complete paternal isodisomy of chromosome 17 was discovered in a patient with junctional epidermolysis bullosa (JEB) with pyloric atresia. JEB is characterised by fragility of the skin that leads to the separation of the dermo- epidermal junction. The proband in this case had two mutated ITGB4 alleles (Natsuga K et al 2010).

Category:

Disomy (UPD)

Record:

213

Last Modified 1/23/2017

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