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.
Copyright 2008 Wiley-Liss, Inc.
MeSH terms
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Beckwith-Wiedemann Syndrome / complications
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Beckwith-Wiedemann Syndrome / genetics*
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Child, Preschool
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Chromosomes, Human, Pair 11 / genetics
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DNA Methylation*
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Female
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Genomic Imprinting
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Heart Atria / diagnostic imaging
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Heart Neoplasms / complications
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Heart Neoplasms / diagnostic imaging
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Heart Neoplasms / genetics*
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Humans
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Infant
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Infant, Newborn
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Phenotype
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Pregnancy
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Prenatal Diagnosis
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Ultrasonography, Prenatal*