Chromosome instability syndrome

Chromosome Instability Syndrome

Chromosome instability syndrome (pronunciation: kroh-muh-sohm in-stuh-bil-i-tee sin-drohm) is a group of genetic disorders characterized by an increased rate of chromosomal abnormalities due to defects in DNA repair mechanisms.

Etymology

The term "chromosome instability syndrome" is derived from the Greek words "chroma" meaning color, "soma" meaning body, and the English word "instability", referring to the unstable nature of the chromosomes in these conditions. The term "syndrome" is derived from the Greek word "syndromē", meaning "concurrence of symptoms", indicating a group of symptoms that consistently occur together.

Related Terms

• DNA (Deoxyribonucleic acid): The molecule that carries genetic instructions in all living organisms.
• Chromosome: A thread-like structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
• Genetic Disorder: A disease caused by abnormalities in an individual's genome.
• DNA Repair: A collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.
• Genome: The complete set of genes or genetic material present in a cell or organism.

Symptoms

Symptoms of chromosome instability syndromes can vary widely, but often include increased susceptibility to cancers, developmental delays, and immunodeficiency. Specific symptoms can depend on the particular syndrome and the specific chromosomal abnormalities involved.

Causes

Chromosome instability syndromes are caused by mutations in genes involved in DNA repair mechanisms. These mutations can be inherited from parents or can occur spontaneously during the life of an individual.

Diagnosis

Diagnosis of chromosome instability syndromes typically involves genetic testing to identify chromosomal abnormalities and mutations in DNA repair genes.

Treatment

Treatment for chromosome instability syndromes typically involves managing the symptoms and complications of the condition. This can include treatments for cancers, therapies for developmental delays, and interventions for immunodeficiency.

See Also

• Bloom Syndrome
• Ataxia Telangiectasia
• Fanconi Anemia

External links

• Medical encyclopedia article on Chromosome instability syndrome
• Wikipedia's article - Chromosome instability syndrome

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