Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

doi:10.1136/jmg.30.2.97

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Article

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

Journal of medical genetics - 1 Feb 1993

Flynn G A, Hirst M C, Knight S J, Macpherson J N, Barber J C, Flannery A V, Davies K E, Buckle V J

Abstract excerpt

Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility...

Topics

Chromosome Fragile Sites
Chromosome Fragility
Chromosome Mapping
DNA Mutational Analysis
DNA Probes
Folic Acid
Fragile X Syndrome
Genetic Linkage
Humans
In Situ Hybridization, Fluorescence
In Vitro Techniques
Male
Phenotype
Repetitive Sequences, Nucleic Acid
X Chromosome

Source

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Identifiers

PMID: 8445629
DOI: 10.1136/jmg.30.2.97
PMCID: PMC1016261

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8445629-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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