Deletion syndrome

Deletion syndrome is a group of genetic disorders characterized by the deletion of DNA from a specific part of the chromosomes. These syndromes can lead to a variety of physical and mental health problems, depending on the specific genes that are deleted.

Types of Deletion Syndromes

There are several types of deletion syndromes, including:

• 22q11.2 deletion syndrome: This is the most common type of deletion syndrome. It can cause heart defects, immune system problems, and learning disabilities.

• Cri-du-chat syndrome: This syndrome is caused by a deletion on chromosome 5. It can cause intellectual disability and developmental delays.

• Prader-Willi syndrome: This syndrome is caused by a deletion on chromosome 15. It can cause obesity, intellectual disability, and behavioral problems.

• Williams syndrome: This syndrome is caused by a deletion on chromosome 7. It can cause cardiovascular disease, developmental delays, and learning disabilities.

Causes

Deletion syndromes are caused by a deletion of DNA from a specific part of a chromosome. This can occur during the formation of egg or sperm cells, or it can occur in early fetal development. In some cases, a deletion syndrome can be inherited from a parent who carries a deletion in one of their chromosomes.

Diagnosis

Diagnosis of deletion syndromes typically involves genetic testing. This can include karyotyping, which is a test that examines the size, shape, and number of chromosomes, and microarray analysis, which is a test that can detect small deletions that may not be visible on a karyotype.

Treatment

There is no cure for deletion syndromes, but treatment can help manage symptoms. This can include physical therapy, occupational therapy, speech therapy, and educational support. In some cases, medication or surgery may be needed to treat physical health problems associated with the syndrome.

See also

• Genetic disorder
• Chromosome abnormality
• Genetic testing

Deletion syndrome Resources
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