Constitutional H19 hypermethylation in a patient with isolated cardiac tumor

Am J Med Genet A. 2008 Aug 15;146A(16):2126-9. doi: 10.1002/ajmg.a.32421.

Abstract

Beckwith-Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS.

Publication types

  • Case Reports

MeSH terms

  • Beckwith-Wiedemann Syndrome / complications
  • Beckwith-Wiedemann Syndrome / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 11 / genetics
  • DNA Methylation*
  • Female
  • Genomic Imprinting
  • Heart Atria / diagnostic imaging
  • Heart Neoplasms / complications
  • Heart Neoplasms / diagnostic imaging
  • Heart Neoplasms / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis
  • Ultrasonography, Prenatal*