Constitutional H19 hypermethylation in a patient with isolated cardiac tumor.
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.
Descartes
Maria
M
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. mdescartes@genetics.uab.edu
Romp
Robb
R
Franklin
Judy
J
Biggio
Joseph R
JR
Zehnbauer
Barbara
B
D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D019175:DNA Methylation; D005260:Female; D018392:Genomic Imprinting; D006325:Heart Atria / Q000000981:diagnostic imaging; D006338:Heart Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal