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Article

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

American journal of medical genetics - 9 Aug 1996

Mingroni-Netto R C, Haddad L A, Vianna-Morgante A M

Abstract excerpt

The size of the CGG repeat of the FMR1 gene was investigated with probe StB12.3 in 154 transmissions to the offspring of heterozygotes for the premutation and the full mutation. Among the 135 offspring of premutated heterozygotes there were three decreases in size of the repeats: in two of these cases a full mutation was present along with the decreased premutation, and in a third mosaic (46,fra(X)(q27.3),Y), a...

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Source

Identifiers

PMID: 8844063
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<270::AID-AJMG7>3.0.CO;2-Y

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→

Click a neighbor to travelStep 1 · 12 closest

The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: implications for the origin of mosaicism.PMID 8844063Read ↗

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

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 ↗

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

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

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in 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 the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.Semantic proximity Read ↗

Mosaicism in fragile X affected males.Semantic proximity Read ↗

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

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.Semantic proximity Read ↗

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