Searchable abstracts of presentations at key conferences in endocrinology

ea0019oc25 | Bone and Calcium | SFEBES2009

Genome-wide abnormalities in parental inheritance patterns and DNA methylation in Russell–Silver syndrome

Dias R , Bogdarina I , Johnston L , Buchanan C , Savage M , Hokken-Koelega A , Clark A

Background: Russell–Silver syndrome (RSS) is a heterogeneous condition characterised by pre- and post-natal growth retardation in association with variable dysmorphic features including triangular facies and body asymmetry. The condition has previously been linked to 2 genetic abnormalities: aberrant methylation at the 11p15.5 locus in 30–40% and maternal uniparental disomy (UPD) of chromosome 7 in 10% of cases. Up to 50% of children currently have no identified (epi...