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 th...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-08, Vol.146A (16), p.2126-2129
Main Authors: Descartes, Maria, Romp, Robb, Franklin, Judy, Biggio, Joseph R., Zehnbauer, Barbara
Format: Article
Language:English
Subjects:
Beckwith-Wiedemann Syndrome - complications
Beckwith-Wiedemann Syndrome - genetics
Beckwith–Wiedemann syndrome
Biological and medical sciences
BWS
Cardiology. Vascular system
Child, Preschool
Chromosomes, Human, Pair 11 - genetics
DNA Methylation
Female
Genomic Imprinting
H19 hypermethylation
Heart
Heart Atria - diagnostic imaging
Heart Neoplasms - complications
Heart Neoplasms - diagnostic imaging
Heart Neoplasms - genetics
Humans
Infant
Infant, Newborn
isolated cardiac tumor
Medical genetics
Medical sciences
Phenotype
Pregnancy
Prenatal Diagnosis
Tumors of the heart
Ultrasonography, Prenatal
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Description
Summary: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. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32421