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.

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

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.

American journal of human genetics - 1 Aug 1992

Wöhrle D, Kotzot D, Hirst M C, Manca A, Korn B, Schmidt A, Barbi G, Rott H D, Poustka A, Davies K E

Abstract excerpt

A gene designated "FMR-1" has been isolated at the fragile-X locus. One exon of this gene is carried on a 5.1-kb EcoRI fragment that exhibits length variation in fragile-X patients because of amplification of or insertion into a CGG-repeat sequence. This repeat probably represents the fragile site. The EcoRI fragment also includes an HTF island that is hypermethylated in fragile-X patients showing absence of...

Topics

Base Sequence
Child
Chromosome Deletion
DNA
DNA Probes
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Nucleic Acid Hybridization

Phenotype

Polymerase Chain Reaction

RNA, Messenger

RNA-Binding Proteins

Restriction Mapping

Source

Open in PubMed Open full text

Identifiers

PMID: 1642231
PMCID: PMC1682683

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1642231-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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.PMID 1642231Read ↗

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 ↗

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.Semantic proximity Read ↗

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.Semantic proximity Read ↗

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.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 genetic analysis of mentally retarded males with features of the fragile-X syndrome.Semantic proximity Read ↗

The fragile-X syndrome: a growing gene causing familial intellectual disability.Semantic proximity Read ↗

Finding FMR1 mosaicism in Fragile X syndrome.Semantic proximity Read ↗

Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.Semantic proximity Read ↗

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

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.