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Article

Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes.

American journal of medical genetics - 15 Jul 1994

Mingroni-Netto R C, Fernandes J G, Vianna-Morgante A M

Abstract excerpt

Expression of the fragile site Xq27.3 was investigated in 82 heterozygotes (58 normal and 24 mentally impaired) diagnosed by DNA analysis. EcoRI and EagI DNA digests were probed with StB12.3. This allowed the detection of the expansion of the CGG repeat of the FMR1 gene and the methylation patter...

Topics

Chromosome Fragile Sites
Chromosome Fragility
DNA
DNA Probes
Dinucleoside Phosphates
Dosage Compensation, Genetic
Female
Fragile X Syndrome
Gene Dosage
Gene Expression
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methylation

Phenotype

Repetitive Sequences, Nucleic Acid

Statistics, Nonparametric

Source

Identifiers

PMID: 7943014
DOI: 10.1002/ajmg.1320510427

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7943014-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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