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Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
  1. T Eggermann1,
  2. E Meyer1,
  3. C Obermann1,
  4. I Heil1,
  5. H Schüler1,
  6. M B Ranke2,
  7. K Eggermann1,
  8. H A Wollmann2
  1. 1Institute of Human Genetics, University Hospital, RWTH Aachen, Germany
  2. 2Section of Pediatric Endocrinology, University Children’s Hospital, University of Tübingen, Germany
  1. Correspondence to:
 Dr Thomas Eggermann
 Institute of Human Genetics, Pauwelsstr. 30, D-52074 Aachen, Germany;


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.

  • BWS, Beckwith-Wiedemann syndrome
  • IUGR, intrauterine growth retardation
  • PGR, postnatal growth retardation
  • rhGH, recombinant human growth hormone
  • SRS, Silver-Russell syndrome
  • STR, short tandem repeat
  • UPD, uniparental disomy
  • WCP, whole chromosome painting probe
  • chromosome 11p15
  • maternal duplication
  • Silver-Russell syndrome

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  • Written consent: The authors have written consent from the legal guardian of patient SR90 for publication of the images in print and online.

  • This study is supported by Pfizer.

  • Competing interests: none declared