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Article

A fragile X family with high penetrance in females: risk heterogeneity?

Clinical genetics - 1 Jul 1992

Martínez F, Badía L, Prieto F

Abstract excerpt

A fragile X family is described which shows two interesting features. In a sibship of seven, the two males and four of the five females are affected with mental retardation. Since the only normal daughter is not a carrier, the penetrance of the fragile X mutation in carrier daughters is 100%. Nevertheless, the penetrance of this syndrome in affected daughters of normal mothers has been estimated at a third. Also,...

Topics

Adolescent
Adult
Blotting, Southern
Crossing Over, Genetic
DNA
DNA Probes
Dosage Compensation, Genetic
Female
Fragile X Syndrome
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Pedigree

Phenotype

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1355415
DOI: 10.1111/j.1399-0004.1992.tb03130.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1355415-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A fragile X family with high penetrance in females: risk heterogeneity?PMID 1355415Read ↗

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.Semantic proximity Read ↗

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

Increased transmission of intermediate alleles of the FMR1 gene compared with normal alleles among female heterozygotes.Semantic proximity Read ↗

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.Semantic proximity Read ↗

Origins of the fragile X syndrome mutation.Semantic proximity Read ↗

[Familial fragile X syndrome: A pedigree analysis].Semantic proximity Read ↗

Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.Semantic proximity Read ↗

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.Semantic proximity Read ↗

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

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother.Semantic proximity Read ↗

Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.Semantic proximity Read ↗

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.Semantic proximity Read ↗

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