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Article

Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.

American journal of medical genetics - 15 Feb 1994

Kubota T, Saitoh S, Matsumoto T, Narahara K, Fukushima Y, Jinno Y, Niikawa N

Abstract excerpt

Wiedemann-Beckwith syndrome (WBS) is a genetic disorder with overgrowth and predisposition to Wilms' tumor. The putative locus of the gene responsible for this syndrome is assigned to chromosome region 11p15.5, and genomic imprinting in this region has been proposed: the paternally derived gene(s) at 11p15.5 is selectively expressed, while the maternally transmitted gene(s) is inactive. We examined 18 patients...

Topics

Alleles
Beckwith-Wiedemann Syndrome
Blotting, Southern
Child
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 11
Dosage Compensation, Genetic
Female
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Male

Multigene Family

Pedigree

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 7909196
DOI: 10.1002/ajmg.1320490405

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7909196-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.PMID 7909196Read ↗

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