Maternal UPD: More than 60 cases of maternal iso- and hetero-disomy have been reported (Kotzot
D & Uterman G, 2005; Kotzot
D, 2007 ).
The frequent association with Silver-Russell syndrome indicates the presence of imprinted growth
D et al, 1995; Langlois
S et al, 1995; Kotzot
D et al, 2000). Multiple genes on chromosome 7 show parent-of-origin dependent methylation in
cultured lymphoblasts but not in blood DNA
K et al, 2001 ).
Also see entry for Silver
Paternal UPD: Several cases of cystic fibrosis due to paternal UPD have been reported
(Pan Y et al 1998; Goh DL et al 2007; Le Caignec C et al 2007). Pan and colleagues' case also had
sinus inversus totalis and primary ciliary dyskinesia.
In another case of CF with paternal UPD, there was marked post-natal obesity and developmental delay (Fares
F et al, 2006).