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Article

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

Cell - 20 Dec 1991

Fu Y H, Kuhl D P, Pizzuti A, Pieretti M, Sutcliffe J S, Richards S, Verkerk A J, Holden J J, Fenwick R G, Warren S T

Abstract excerpt

Fragile X syndrome results from mutations in a (CGG)n repeat found in the coding sequence of the FMR-1 gene. Analysis of length variation in this region in normal individuals shows a range of allele sizes varying from a low of 6 to a high of 54 repeats. Premutations showing no phenotypic effect in fragile X families range in size from 52 to over 200 repeats. All alleles with greater than 52 repeats, including...

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Identifiers

PMID: 1760838
DOI: 10.1016/0092-8674(91)90283-5

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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.

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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.PMID 1760838Read ↗

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

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

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.Semantic proximity Read ↗

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

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

Unusual inheritance patterns due to dynamic mutation in fragile X syndrome.Semantic proximity Read ↗

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

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

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Semantic proximity Read ↗

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.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 ↗

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

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