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Article

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

American journal of human genetics - 1 Sept 1996

Väisänen M L, Haataja R, Leisti J

Abstract excerpt

The fragile X syndrome, the most common inherited form of mental retardation, is caused by the expansion of a CGGn trinucleotide repeat in the FMR-1 gene. Although the repeat number usually increases during transmission, few cases with reduction of an expanded CGGn repeat back to the normal size range have been reported. We describe for the first time a family in which such reduction has occurred in the paternal...

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Identifiers

PMID: 8751854
PMCID: PMC1914896

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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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Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.PMID 8751854Read ↗

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

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

Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.Semantic proximity Read ↗

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

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

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

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

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

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.Semantic proximity Read ↗

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.Semantic proximity Read ↗

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Semantic proximity Read ↗

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Semantic proximity Read ↗

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