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Article

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.

Human molecular genetics - 1 Jul 1997

Moutou C, Vincent M C, Biancalana V, Mandel J L

Abstract excerpt

In the fragile X syndrome, the transition from unmethylated moderate expansions of the CGG repeat (premutations) to methylated large expansions (full mutations) occurs only through maternal transmission. The risk of such transition is highly correlated with the size of the maternal premutation (PM), being very low for small PM alleles (approximately 60 repeats), to 100% for alleles above 100 repeats. The timing...

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Identifiers

PMID: 9215664
DOI: 10.1093/hmg/6.7.971

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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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.PMID 9215664Read ↗

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

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation.Semantic proximity Read ↗

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.Semantic proximity Read ↗

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.Semantic proximity Read ↗

Paternal transmission of fragile X syndrome.Semantic proximity Read ↗

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.Semantic proximity Read ↗

Mosaicism for a full mutation and a normal size allele in two fragile X males.Semantic proximity Read ↗

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.Semantic proximity Read ↗

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

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.Semantic proximity Read ↗

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

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