Beckwith-Wiedemann syndrome, tumourigenesis and imprinting.
The concurrent development of cytogenetic, clinical, genetic and molecular studies has led to the recognition that the different hereditary and non-hereditary forms of the Beckwith-Wiedemann syndrome and associated tumours result from an imbalance between maternal and paternal alleles. The most exciting development in the past year was the discovery of uniparental paternal disomy and the increased understanding, arising from studies in the mouse and in hereditary cases, of the role possibly played by imprinting and somatic mosaicism in partial and complete expression of this complex syndrome.
Junien
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INSERM U73, University Paris V, France.
D000483:Alleles; D000818:Animals; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004200:Diseases in Twins / Q000235:genetics; D006801:Humans; D051379:Mice; D009369:Neoplasms / Q000235:genetics