Chromosome instability syndrome
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.

The following chromosome instability syndromes are known:
  • Ataxia telangiectasia
    Ataxia telangiectasia
    Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...

  • Ataxia telangiectasia-like disorder
  • Bloom syndrome
    Bloom syndrome
    Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...

  • Fanconi anaemia
  • Nijmegen breakage syndrome
    Nijmegen breakage syndrome
    Nijmegen breakage syndrome , also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.NBS1 codes for a protein that has two...

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