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Article

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Human genetics - 1 Nov 1994

Vits L, De Boulle K, Reyniers E, Handig I, Darby J K, Oostra B, Willems P J

Abstract excerpt

The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regression of a CGG repeat in the premutation range is not uncommon, regression from a full premutation (> 200 repeats) or premutation range (50-200 repeats) to a repeat of normal size (< 50 repeats) has not yet...

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Source

Identifiers

PMID: 7959688
DOI: 10.1007/BF00211019

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.PMID 7959688Read ↗

Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.Semantic proximity Read ↗

Familial transmission of the FMR1 CGG repeat.Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

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

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.Semantic proximity Read ↗

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.Semantic proximity Read ↗

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

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

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.Semantic proximity Read ↗

Frequency and stability of the fragile X premutation.Semantic proximity Read ↗

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