A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.

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Article

A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1994

Wiegers A M, Curfs L M, Meijer H, Oostra B, Fryns J P

Abstract excerpt

In this report we present the results of psychological investigations in a family in which 11 individuals, 7 females and 4 males, have a deletion of 1.6 Kb proximal to the CGG repeat of the FMR1. All 4 males with the deletion and 2 of the female carriers show characteristics of the fragile X clinical and behavioural phenotype. The findings in the present family illustrate that the typical characteristics of the...

Topics

Adolescent
Child, Preschool
Chromosome Deletion
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Carrier Screening
Genetic Linkage
Humans
Intellectual Disability
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Pedigree

Phenotype

RNA-Binding Proteins

Repetitive Sequences, Nucleic Acid

Sex Chromosome Aberrations

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 7888141

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7888141-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.PMID 7888141Read ↗

Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene.Semantic proximity Read ↗

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 ↗

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.Semantic proximity Read ↗

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.Semantic proximity Read ↗

Molecular-clinical correlations in males with an expanded FMR1 mutation.Semantic proximity Read ↗

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.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 ↗

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.Semantic proximity Read ↗

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Semantic proximity Read ↗

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.Semantic proximity Read ↗

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.Semantic proximity Read ↗

Think about it: FMR1 gene mosaicism.Semantic proximity Read ↗

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