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
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
Paternal UPD of chromosome 8 has been reported in proband with spinal muscular atrophy and progressive myoclonic
epilepsy (Giráldez BG et al 2015).