More than 30 cases of maternal iso- and hetero-disomy in Silver-Russell syndrome indicate the
presence of imprinted growth
gene(s) on chromosome 7.
Several cases involving maternally inherited duplication of 7p11.2-p13 in children with
syndrome indicate that a "double dose" of maternally expressed genes in this region suppresses
D et al, 2000; Monk D et al, 2002).
However, deletion and maternal UPD of 7q31-qter is also associated with SRS suggesting two
separate candidate regions
(Hannula K et al 2001; Hitchins MP et al 2001; Reboul MP et al, 2006).
Eggermann T et al (2011) reported a
case with deletion of the paternal allele in 7q32 harbouring the MEST/PEG1 gene in a growth-retarded
patient, consistent with a function of this imprinted gene in the aetiology of SRS.
Two cases with maternal i(7q) and paternal i(7p) suggest the presence of an imprinted gene(s) on
7q that regulate post-natal growth (Kotzot D et al 2001).
Using high density genotyping arrays, Bruce MK et al (2005) detected
matUPD7 in three cases of RSS, but no region of common isodisomy could be identified.