Taxon:

Human

Gene:

"UPD"

Chromosome:

06

Location:

Description:

Eggermann et al have suggested that the apparent upd(6)mat “phenotype" is a result of placental trisomy 6 mosaicism (Eggermann T et al, 2017).
Maternal UPD was detected in a developmentally normal patient (van den Berg-Loonen EM et al 1996) and has been associated with IUGR (Spiro RP et al 1999; Lazier J et al 2016).
Cockwell AE et al (2006) described a case of mosaic trisomy 6 with mosaic maternal heterodisomy, that had an atrial septal defect, exomphalos and intrauterine death at 23 weeks gestation.
Salahshourifar I et al (2010) reported isolated cleft lip and palate in a boy with maternal heterodisomy of chromosome 6.
A Japanese patient had 3M syndrome (characterised by severe pre- and post-natal growth retardation) due to maternal UPD that revealed mutations in the CUL7 gene (Sasaki K et al 2011).
In a cohort of patients with cone disorders (cone dystrophy (CD) and cone-rod dystrophy (CRD)) homozygosity mapping and segregation analysis revealed maternal UPD in a patient. In this case, maternal UPD unmasked a mutation in the TULP1 gene (Roosing S et al 2013).

Paternal UPD is discussed in the 6q entry on transient neonatal diabetes mellitus (TNDM).

Category:

Disomy (UPD)

Record:

15

Last Modified 1/22/2018

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