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Article

Slight instability of a FMR-1 allele over three generations in a family from the general population.

American journal of medical genetics - 9 Aug 1996

Abramowicz M J, Parma J, Cochaux P

Abstract excerpt

We report on a family segregating a FMR-1 allele within the "grey zone" of triplet repeat length (n = 51). The allele showed a 1-unit increment when transmitted through a female meiosis and a 1-unit increment when transmitted through a male of the next generation. At the following generation, a p...

Topics

Alleles
Amniocentesis
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genomic Imprinting
Humans
Male
Mass Screening
Nerve Tissue Proteins
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy

RNA-Binding Proteins

Trinucleotide Repeats

Source

Identifiers

PMID: 8844062
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<268::AID-AJMG6>3.0.CO;2-Q

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8844062-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Slight instability of a FMR-1 allele over three generations in a family from the general population.PMID 8844062Read ↗

Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.Semantic proximity Read ↗

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.Semantic proximity Read ↗

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.Semantic proximity Read ↗

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

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

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

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.Semantic proximity Read ↗

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.Semantic proximity Read ↗

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.Semantic proximity Read ↗

The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: implications for the origin of mosaicism.Semantic proximity Read ↗

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.Semantic proximity Read ↗

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.Semantic proximity Read ↗

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