Disease relevance of Chromosome Fragility

• We describe three children who had vitamin B12 deficiency and who displayed pancytopenia with multiple chromosomal breaks, rearrangements, and deletions consistent with chromosomal fragility [1].

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

• FA cells show chromosomal fragility, slow growth and increased sensitivity to DNA crosslinking agents [7].

References