Contiguous gene syndrome

Contiguous gene syndrome is a medical condition that occurs when a deletion or duplication in a person's DNA affects multiple genes that are located close to each other on the same chromosome. This syndrome is characterized by a wide range of symptoms, which can vary greatly from person to person depending on the specific genes that are affected.

Causes

Contiguous gene syndrome is caused by a deletion or duplication of a segment of DNA that includes multiple genes. This can occur as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. In some cases, the syndrome can be inherited from a parent who carries a chromosomal rearrangement such as a translocation.

Symptoms

The symptoms of contiguous gene syndrome can vary greatly depending on the specific genes that are affected. Some people may have physical abnormalities, intellectual disability, or health problems such as heart disease or cancer. Others may have no noticeable symptoms.

Diagnosis

Diagnosis of contiguous gene syndrome typically involves genetic testing to identify the specific deletion or duplication. This can include karyotyping, which provides a broad overview of a person's chromosomes, or more detailed tests such as microarray analysis or next-generation sequencing.

Treatment

There is currently no cure for contiguous gene syndrome. Treatment typically focuses on managing the symptoms and may include physical therapy, educational support, and medical care for any health problems.

See also

• Genetic disorder
• Chromosome abnormality
• Genetic testing
• Karyotype
• Microarray analysis
• Next-generation sequencing

References

Contiguous gene syndrome Resources
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