Taxon:

Human

Gene:

"UPD"

Chromosome:

05

Location:

Description:

Maternal UPD has been reported.
Two cases of Netherton syndrome (NS) have occurred as a result of maternal UPD of chromosome 5 (Lin SP et al 2007; Namuta S et al 2014). NS is characterised by congenital ichthyosiform erythroderma and hair shaft abnormalities.
Melone MAB et al (2014) report a case of Stüve- Wiedemann syndrome (STWS) without long bone dysplasia as a result of maternal UPD. Typical presentation of STWS includes skeletal dysplasia, camptodactyly, sucking and swallowing difficulties, episodes of respiratory distress and hyperthermia.
Maternal UPD was reported in a patient with congenital sodium diarrhea (CSD). CSD is diarrhea of intrauterine onset with high faecal sodium loss (Janecke AR et al 2015).

Paternal UPD has also been reported.
Paternal UPD has been reported in a 2-year-old boy with type III spinal muscular atrophy, an autosomal recessive condition (Brzustowics LM, et al. 1994).
Segmental paternal uniparental isodisomy of 5q32-qter was detected in one female with childhood-onset schizophrenia (Seal JL et al, 2006).
García MM et al (2014) report a case of autosomal recessive multiple epiphyseal dysplasia (EDM4/rMED) due to paternal UPD. This disorder is characterised by childhood onset joint pain at the hips and knees, brachydactyly, shortened (or normal) stature and in some cases congenital clubfoot.

Category:

Disomy (UPD)

Record:

11

Last Modified 2/2/2017

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