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Article

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

Journal of medical genetics - 1 Nov 1992

Heitz D, Devys D, Imbert G, Kretz C, Mandel J L

Abstract excerpt

The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat. Two main types of mutation have been categorised. Clinical expression is associated with the presence of the full mutation, while subjects who carry only a premutation do not have mental retardation. Premutations have a high risk of transition to full mutation when transmitted by a female. We have used direct detection of...

Topics

Alleles
Base Sequence
DNA
DNA Mutational Analysis
DNA Probes
Female
Fragile X Syndrome
Heterozygote
Humans
Male
Molecular Sequence Data
Mosaicism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Pregnancy

Repetitive Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 1453430
DOI: 10.1136/jmg.29.11.794
PMCID: PMC1016175

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1453430-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.PMID 1453430Read ↗

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