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
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
Maternal UPD was reported in a patient with congenital sodium diarrhea (CSD). CSD is diarrhea of
with high faecal sodium loss (Janecke AR et al
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
recessive multiple epiphyseal dysplasia (EDM4/rMED) due to paternal UPD. This disorder is
childhood onset joint pain at the hips and knees, brachydactyly, shortened (or normal) stature and
in some cases