Chromosome instability syndrome
Encyclopedia
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:
The following chromosome instability syndromes are known:
- Ataxia telangiectasiaAtaxia telangiectasiaAtaxia 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 syndromeBloom syndromeBloom'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 syndromeNijmegen breakage syndromeNijmegen 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...