RT Journal Article
SR Electronic
T1 Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP e26
OP e26
DO 10.1136/jmg.2004.028936
VO 42
IS 5
A1 Eggermann, T
A1 Meyer, E
A1 Obermann, C
A1 Heil, I
A1 Schüler, H
A1 Ranke, M B
A1 Eggermann, K
A1 Wollmann, H A
YR 2005
UL http://jmg.bmj.com/content/42/5/e26.abstract
AB Background: 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. Methods: A total of 46 SRS patients were screened for genomic rearrangements in 11p15 by STR typing and FISH analysis. Results: Two SRS patients with duplications of maternal 11p material in our study population (n = 46) were detected. In patient SR46, the duplicated region covered at least 9 Mb; FISH analysis revealed a translocation of 11p15 onto 10q. In patient SR90, additional 11p15 material (approximately 5 Mb) was translocated to the short arm of chromosome 15. Conclusions: We suggest that diagnostic testing for duplication in 11p15 should be offered to patients with severe IUGR and PGR with clinical signs reminiscent of SRS. SRS is a genetically heterogeneous condition and patients with a maternal duplication of 11p15.5 may form an important subgroup.