Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

doi:10.1136/jmg.28.12.830

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Article

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

Journal of medical genetics - 1 Dec 1991

Rousseau F, Heitz D, Oberlé I, Mandel J L

Abstract excerpt

We have studied the patterns of mutation and X inactivation in female carriers of a fragile X mutation, to try to correlate them with various phenotypic features. We used a simple assay, which shows simultaneously the size of the mutation, its methylation status, and DNA fragments that represent the normal active and inactive X chromosomes. We have observed an age dependent process, whereby the 'full' fragile X...

Topics

Adolescent
Adult
Age Factors
Aged
Child
Child, Preschool
Dinucleoside Phosphates
Dosage Compensation, Genetic
Female
Fragile X Syndrome
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Infant, Newborn

Leukocytes

Male

Middle Aged

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 1757958
DOI: 10.1136/jmg.28.12.830
PMCID: PMC1017159

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1757958-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.PMID 1757958Read ↗

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.Semantic proximity Read ↗

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