fragile X syndrome

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Related to FMR1: FMRP, FRAXA, FXTAS

fragile X syndrome

[‚fraj·əl ′eks ‚sin‚drōm]
(medicine)
A hereditary condition resulting from a trinucleotide repeat at an inherited fragile site on the long arm of the X chromosome. Affected males usually have some characteristic facial features, enlarged testes, and mental retardation. Females with on fragile X chromosome and one normal X chromosome may have a lesser degree of mental retardation.
References in periodicals archive ?
A family with a molecular diagnosis of cases with different allelic variants of the FMR1 gene is reported.
Some of the gene candidates and their function in the pathogenesis of primary premature ovarian insufficiency Gene Gene locus Function of a gene product FMR1 Xq27.
Prior reports differ in their estimates of the analytical sensitivity of PCR to detect large FMR1 expansions; some report sensitivity down to 1% mosaicism (15), others have reported difficulty in amplifying large alleles (17-18) or amplifying premutation alleles in a background of full mutations (19).
El SXF es causado por una alteracion en el gen FMR1, con locus Xq27.
Citation: "Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives;" Ori Bar-Nur et al.
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
Premature ovarian failure also is associated with FMR1 repeat expansions, potentially including repeat sizes in the up per part of the normal range.
En el caso del cromosoma X fragil, el extremo del gen FMR1 situado en la banda Xq27.
Methylation analysis of FMR1 promoter and Xist genes revealed normal methylation pattern for both the genes (Fig.
Mutations in certain genes such as the FMR1 gene, which plays a role in neural development, can result in autistic features.
7) On the other hand, clinical interpretation depends on the clinical context: For example, an FMR1 gene premutation is interpreted differently if the patient is a child with developmental delay, a pregnant woman, a woman having trouble becoming pregnant, or an elderly man with ataxia.