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Article

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome.

American journal of medical genetics - 27 Mar 1995

Orstavik R E, Tommerup N, Eiklid K, Orstavik K H

Abstract excerpt

Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15.5, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twins discordant for WBS have been reported, and it has been proposed that this excess could be related to the process...

Topics

Adolescent
Base Sequence
Beckwith-Wiedemann Syndrome
Diseases in Twins
Dosage Compensation, Genetic
Electrophoresis, Polyacrylamide Gel
Female
Humans
Molecular Sequence Data
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Receptors, Androgen

Tourette Syndrome

Twins, Monozygotic

Source

Identifiers

PMID: 7625447
DOI: 10.1002/ajmg.1320560219

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7625447-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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