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Article

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.

BMC medical genetics - 11 Apr 2007

Miano Maria Giuseppina, Laperuta Carmela, Chiurazzi Pietro, D'Urso Michele, Ursini Matilde Valeria

Abstract excerpt

BACKGROUND: The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 alleles. CASE PRESENTATION: We describe the coexistence in a large Italian kindred of Fragile X syndrome and familial POF in females with ovarian...

Topics

Adult
Aged
Alleles
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genotype
Humans
Italy
Male
Middle Aged
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Primary Ovarian Insufficiency

Trinucleotide Repeat Expansion

X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 17428316
DOI: 10.1186/1471-2350-8-18
PMCID: PMC1859987

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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