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Article

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

American journal of medical genetics - 15 Jul 1994

Trottier Y, Imbert G, Poustka A, Fryns J P, Mandel J L

Abstract excerpt

We report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70-100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene...

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Source

Identifiers

PMID: 7943018
DOI: 10.1002/ajmg.1320510431

Genes

FMR1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.PMID 7943018Read ↗

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.Semantic proximity Read ↗

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Fragile X syndrome and deletions in FMR1: new case and review of the literature.Semantic proximity Read ↗

The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.Semantic proximity Read ↗

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.Semantic proximity Read ↗

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.Semantic proximity Read ↗

Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.Semantic proximity Read ↗

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