Chromosomal instability

Chromosome instability occurs when there are mutations in genes that code for repair proteins in DNA . These mutations lead to incomplete repair of mutations and thus to chromosome breaks . As a result, people with such diseases are often mutagenic hypersensitive. This means that they have, for example, an increased sensitivity to radiation and carcinogenic substances. As a result of this mutagen hypersensitivity and the chromosome breaks, increased rates of translocations , inversions and deletions can be observed.

Usually instability syndromes chromosomes is all an autosomal - recessive inheritance before and they lead to a significantly higher susceptibility to cancer than non-sufferers.

Syndromes

The following diseases are classified in the group of so-called chromosome instability syndromes:

• Fanconi anemia
• Ataxia teleangiectatica
• Bloom Syndrome
• Nijmegen Breakage Syndrome
• ICF syndrome (ICF = immunodeficiency, centromeric instability, facial anomalies)

Chromosomal instability is also described in the following syndromes. However, with these syndromes there is still an unclear connection between chromosome instability and the symptoms of the sick:

• Cockayne Syndrome
• Xeroderma pigmentosum
• Riyadh chromosome breakage syndrome
• Rothmund-Thomson Syndrome
• Radial renal syndrome
• Craniostenosis-microcephaly syndrome
• Dubowitz syndrome
• Alacrima-achalasia-adrenal insufficiency

literature

• Gardner and Southerland: Chromosome abnormalities and genetic counseling . 3rd edition, 2004, Oxford university press