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- Title
Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
- Authors
Eggermann, T; Meyer, E; Obermann, C; Heil, I; Schüler, H; Ranke, M B; Eggermann, K; Wollmann, H A
- Abstract
Silver-Russell syndrome (SRS) is a heterogeneous malformation syndrome characterised by intrauterine and postnatal growth retardation (IUGR, PGR) and dysmorphisms. The basic causes are unknown, however in approximately 10% of patients a maternal uniparental disomy (UPD) of chromosome 7 or chromosomal aberrations can be detected. Four growth retarded children, two with SRS-like features, associated with maternal duplications of 11p15 have been described. Considering the involvement of this genomic region in Beckwith-Wiedemann overgrowth syndrome (BWS), we postulated that some cases of SRS--with an opposite phenotype to BWS--might also be caused by genomic disturbances in 11p15.
- Publication
Journal of medical genetics, 2005, Vol 42, Issue 5, pe26
- ISSN
1468-6244
- Publication type
Research
- DOI
10.1136/jmg.2004.028936