" /> Chromosome Fragile Site - CISMeF





Preferred Label : Chromosome Fragile Site;

NCIt synonyms : Fragile Site;

NCIt definition : Heritable sensitive regions of chromosomes which show up in vitro as non-staining bands. They are associated with chromosome breakage and other aberrations. No abnormal phenotype has been definitely identified with autosomal fragile sites, but some rare autosomal recessive disorders may be due to homozygosity for fragile sites. A fragile site on the X chromosome is associated with Fragile X Syndrome. Fragile sites are designated by the letters fra followed by the designation for the specific chromosome and locus.;

Alternative definition : CDISC: A heritable locus on a chromosome that is prone to DNA breakage. (HGNC);

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31/07/2025


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