Human imprinting syndromes

Derek Lim, Eamonn Maher

Research output: Contribution to journalReview article

17 Citations (Scopus)


Human imprinting disorders can provide critical insights into the role of imprinted genes in human development and health, and the molecular mechanisms that regulate genomic imprinting. To illustrate these concepts we review the clinical and molecular features of several human imprinting syndromes including Beckwith Wiedemann syndrome, Silver Russell syndrome, Angelman syndrome, Prader Willi syndrome, pseudohypoparathyroidism, transient neonatal diabetes, familial complete hydatidiform moles and chromosome 14q32 imprinting domain disorders.
Original languageEnglish
Pages (from-to)347-369
Number of pages23
Issue number2
Publication statusPublished - 1 Dec 2009


  • genomic imprinting
  • transient neonatal diabetes
  • Beckwith-Wiedemann syndrome
  • hydatidiform mole
  • NLRP
  • Prader Willi/Angelman syndrome
  • uniparental disomy
  • pseudohypoparathyroidism
  • Silver Russell syndrome


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