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Article

Expansion to full mutation of a FMR1 intermediate allele over two generations.

European journal of human genetics : EJHG - 1 Apr 2004

Terracciano Alessandra, Pomponi Maria Grazia, Marino Grazia Maria Elisabetta, Chiurazzi Pietro, Rinaldi Maria Michela, Dobosz Marina, Neri Giovanni

Abstract excerpt

Fragile X syndrome is due to an expanded CGG repeat in the 5' UTR of the FMR1 gene. According to repeat size, we distinguish four allele categories: normal (<40 CGG), intermediate (46-60 CGG), premutated (55-200 CGG) and full mutated (>200 CGG). However, the boundaries among these categories are unclear, making it difficult to classify unstable alleles and to estimate the risk of expansion. We report a family...

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Source

Identifiers

PMID: 14735162
DOI: 10.1038/sj.ejhg.5201154

Genes

FMR1

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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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