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Article

Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

American journal of human genetics - 1 Mar 1995

Migeon B R, Dunn M A, Thomas G, Schmeckpeper B J, Naidu S

Abstract excerpt

Rett syndrome (RS), a progressive encephalopathy with onset in infancy, has been attributed to an X-linked mutation, mainly on the basis of its occurrence almost exclusively in females and its concordance in female MZ twins. The underlying mechanisms proposed are an X-linked dominant mutation wit...

Topics

Child
Chromosome Aberrations
Diseases in Twins
Dosage Compensation, Genetic
Female
Genetic Linkage
Genotype
Humans
Pedigree
Rett Syndrome
Twins, Monozygotic
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7887418
PMCID: PMC1801188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7887418-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.PMID 7887418Read ↗

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.Semantic proximity Read ↗

X chromosome inactivation and X-linked mental retardation.Semantic proximity Read ↗

Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.Semantic proximity Read ↗

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

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.Semantic proximity Read ↗

The role of X-chromosome inactivation in the manifestation of Rett syndrome.Semantic proximity Read ↗

Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation.Semantic proximity Read ↗

Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome.Semantic proximity Read ↗

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.Semantic proximity Read ↗

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.Semantic proximity Read ↗

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.Semantic proximity Read ↗

X chromosome inactivation patterns correlate with fetal-placental anatomy in monozygotic twin pairs: implications for immune relatedness and concordance for autoimmunity.Semantic proximity Read ↗

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