Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Deborah J.G. Mackay, Jet Bliek, Maria Paola Lombardi, Silvia Russo, Luciano Calzari, Sara Guzzetti, Claudia Izzi, Angelo Selicorni, Daniela Melis, Karen Temple, Eamonn Maher, Frédéric Brioude, Irène Netchine, Thomas Eggermann*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in respect to the clinical diagnosis. These patients clinically do not fit the characteristic phenotypes of SRS or BWS, but illustrate their clinical heterogeneity. Thus, comprehensive molecular testing is essential for accurate diagnosis and appropriate management, to avoid premature clinical diagnosis and anxiety for the families.

Original languageEnglish
Article numbere3
JournalGenetics Research
Issue number2019
Publication statusPublished - 4 Mar 2019


  • Beckwith-Wiedemann syndrome
  • molecular testing
  • Silver-Russell syndrome
  • unexpected results


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