Taxon:

Human

Gene:

"UPD"

Chromosome:

07

Location:

Description:

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 gene(s) (Kotzot 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 (Hannula K et al, 2001 ).
Also see entry for Silver Russell syndrome.

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). The former case also had sinus inversus totalis and primary ciliary dyskinesia.
In one case of CF there was marked post-natal obesity and developmental delay (Fares F et al, 2006).

Category:

Disomy (UPD)

Record:

19

Last Modified 1/19/2017

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