Taxon:

Human

Gene:

"UPD"

Chromosome:

08

Location:

Description:

A case of maternal UPD was associated with an early onset ileal carcinoid tumor (Karanjawalaa ZE, et al. 2000).
A case of late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) was reported to be due to maternal UPD of chromosome 8, where two mutations in the CLN8 gene were unmasked (Vantaggiato C et al 2009).
Through a SNP genotyping microarray study, a case of maternal UPD of chromosome 8 was identified. The proband had a prominent forehead, plagiocephaly, hypertelorism, low set ears, short toe, inside ear prominence and pneumothorax (Papenhausen P et al 2011).
Varon R et al (2007) report a case of Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

A case of lipoprotein-lipase (LPL) deficiency due to a homozygous mutation in the LPL gene was discovered in a female proband with paternal isodisomy of chromosome 8. Apart from this condition the proband was phenotypically normal, suggesting that normal development can occur with two copies of chromosome 8 (Benlian P et al 1996).
Matsubara K et al (2014) report a case of paternal UPD of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia (CAH).
Paternal UPD of chromosome 8 has been reported in proband with spinal muscular atrophy and progressive myoclonic epilepsy (Giráldez BG et al 2015).

Category:

Disomy (UPD)

Record:

20

Last Modified 1/20/2017

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