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Article

Fragile X syndrome and deletions in FMR1: new case and review of the literature.

American journal of medical genetics - 12 Nov 1997

Hammond L S, Macias M M, Tarleton J C, Shashidhar Pai G

Abstract excerpt

The fragile X syndrome phenotype of mental retardation is almost always caused by abnormal CGG trinucleotide amplification within the FMR1 gene. Occasionally fragile X syndrome results from point mutations or deletions within or around the FMR1 locus. We have identified a mentally retarded African American male with typical fragile X phenotype and a 300-400 base pair intragenic deletion near the CGG repeat...

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Source

Identifiers

PMID: 9375726

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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Research trail→

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Fragile X syndrome and deletions in FMR1: new case and review of the literature.PMID 9375726Read ↗

CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.Semantic proximity Read ↗

Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.Semantic proximity Read ↗

Non-CGG trinucleotide repeat expansions as pathogenic genetic mutations in Fragile X SyndromeSemantic proximity Read ↗

Fragile X syndrome (review).Semantic proximity Read ↗

Finding FMR1 mosaicism in Fragile X syndrome.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 ↗

A fragile X case with an amplification/deletion mosaic pattern.Semantic proximity Read ↗

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.Semantic proximity Read ↗

Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.Semantic proximity Read ↗

Rare FMR1 gene mutations causing fragile X syndrome: A review.Semantic proximity Read ↗

FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Semantic proximity Read ↗

Clinical aspects of the fragile X syndrome.Semantic proximity Read ↗

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