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Article

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

European journal of human genetics : EJHG - 1 Jan 1996

Malzac P, Biancalana V, Voelckel M A, Moncla A, Pellissier M C, Boccaccio I, Mattei J F

Abstract excerpt

The fragile X syndrome is the most frequent cause of inherited mental retardation. CGG repeat alleles are usually classified as normal, premutation, or full mutation based on the length of this triplet in the 5' untranslated region of the FMR1 gene. The pattern of inheritance follows a two-stage intergenerational process in which the premutation evolves into the full mutation. Some reverse mutations have been...

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Source

Identifiers

PMID: 8800930
DOI: 10.1159/000472163

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.PMID 8800930Read ↗

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The Fragile X premutation: new insights and clinical consequences.Semantic proximity Read ↗

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

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

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