Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

doi:10.1136/jmg.34.5.353

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Article

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Journal of medical genetics - 1 May 1997

Catchpoole D, Lam W W, Valler D, Temple I K, Joyce J A, Reik W, Schofield P N, Maher E R

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BW...

Topics

Aneuploidy
Beckwith-Wiedemann Syndrome
Chromosomes, Human, Pair 11
DNA Methylation
Female
Genomic Imprinting
Humans
Male
Muscle Proteins
Phenotype
RNA, Long Noncoding
RNA, Untranslated

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