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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Chromosome Fragility

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Disease relevance of Chromosome Fragility


High impact information on Chromosome Fragility

  • The findings indicate that constitutional genetic instability can lead to karyotypically aberrant neoplastic clones in the Estren-Dameshek variant of FA as well as in the more typical chromosomal fragility syndromes [2].
  • Under conditions of folate deprivation, the chromosomal fragility level, the pattern and the frequency of expression of fragile sites in XP patients and in their parents were similar to normal [3].
  • FRAXF, the third X-chromosomal fragile site to be cloned, has been shown to harbour a polymorphic compound triplet array: (GCCGTC)n (GCC)n. Expansion and methylation of the GCC-repeat and the neighbouring CpG-rich region result in chromosomal fragility [4].
  • Different cytogenetic alterations and different types of malignancies are more common in Bloom syndrome, and in other GDIDs unrelated to chromosomal fragility, possibly due to different regulatory impairments [5].
  • Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinoline-oxide [6].

Gene context of Chromosome Fragility


  1. Pancytopenia with chromosomal fragility: vitamin B12 deficiency. Chintagumpala, M.M., Dreyer, Z.A., Steuber, C.P., Cooley, L.D. J. Pediatr. Hematol. Oncol. (1996) [Pubmed]
  2. Progressive preleukemia with a chromosomally abnormal clone in a kindred with the Estren-Dameshek variant of Fanconi's anemia. Nowell, P., Bergman, G., Besa, E., Wilmoth, D., Emanuel, B. Blood (1984) [Pubmed]
  3. Chromosomal fragility in the cancer-prone disease xeroderma pigmentosum preferentially involves bands relevant for cutaneous carcinogenesis. Lanza, A., Lagomarsini, P., Casati, A., Ghetti, P., Stefanini, M. Int. J. Cancer (1997) [Pubmed]
  4. Trinucleotide repeats at the FRAXF locus: frequency and distribution in the general population. Holden, J.J., Walker, M., Chalifoux, M., White, B.N. Am. J. Med. Genet. (1996) [Pubmed]
  5. Molecular epidemiology of cancer in immune deficiency. Strigini, P., Carobbi, S., Sansone, R., Lombardo, C., Santi, L. Cancer Detect. Prev. (1991) [Pubmed]
  6. Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia. Schneider, A., Mayer, U., Gebhart, E., Harms, D., Gromball, J., Glöckel, U., Beck, J.D. Eur. J. Pediatr. (1988) [Pubmed]
  7. Fanconi anemia revisited: old ideas and new advances. dos Santos, C.C., Gavish, H., Buchwald, M. Stem Cells (1994) [Pubmed]
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