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- Title
Epigenotype-phenotype correlations in Silver-Russell syndrome.
- Authors
Wakeling, E L; Amero, S Abu; Alders, M; Bliek, J; Forsythe, E; Kumar, S; Lim, D H; MacDonald, F; Mackay, D J; Maher, E R; Moore, G E; Poole, R L; Price, S M; Tangeraas, T; Turner, C L S; Van Haelst, M M; Willoughby, C; Temple, I K; Cobben, J M
- Abstract
Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are found in 5-10% and up to 60% of patients with SRS, respectively. As many features are non-specific, diagnosis of SRS remains difficult. Studies of patients in whom the molecular diagnosis is confirmed therefore provide valuable clinical information on the condition.
- Publication
Journal of medical genetics, 2010, Vol 47, Issue 11, p760
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2010.079111