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Article

Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.

Clinical genetics - 1 Nov 1993

Webb T, Watkiss E, Woods C G

Abstract excerpt

The locus DXS255 was studied using the probe M27 beta in ten probands with Rett syndrome and in eight of their families. No evidence of uniparental disomy of the X chromosome was detected, as all informative probands had inherited an allele from each of their parents. Differential methylation of a CCGG site within the DXS255 locus as shown by digestion with MspI/HpaII, revealed moderate skewing of X-inactivation...

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Identifiers

PMID: 7906210
DOI: 10.1111/j.1399-0004.1993.tb03889.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.PMID 7906210Read ↗

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

The hypervariable DXS255 locus contains a LINE-1 repetitive element with a CpG island that is extensively methylated only on the active X chromosome.Semantic proximity Read ↗

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Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.Semantic proximity Read ↗

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

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Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation.Semantic proximity Read ↗

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