16p11.2 deletion

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{{jpg-image} 16p11.2 deletion syndrome is a chromosomal anomaly characterized by the deletion of a small piece of chromosome 16 in each cell. The condition is specifically located at the 16p11.2 region of chromosome 16, hence its name. This deletion can lead to a wide range of developmental, neurological, and physical issues. The syndrome is a part of a broader category of conditions known as copy number variations (CNVs), which involve changes in the number of copies of a particular region of DNA.

Symptoms and Diagnosis[edit | edit source]

The symptoms of 16p11.2 deletion syndrome can vary significantly among affected individuals. Common symptoms include intellectual disability, autism spectrum disorders, speech delays, and low muscle tone (hypotonia). Some individuals may also exhibit physical anomalies such as heart defects, seizures, and abnormalities in the structure of the brain. Diagnosis of 16p11.2 deletion syndrome typically involves genetic testing to identify the deletion of DNA in the 16p11.2 region. This can be done through methods such as chromosomal microarray analysis (CMA) or karyotyping. Early diagnosis is crucial for the management of symptoms and early intervention.

Causes[edit | edit source]

The exact cause of the 16p11.2 deletion is not fully understood, but it is known to occur as a random event during the formation of reproductive cells or in early fetal development. There is no evidence to suggest that the condition is inherited from an affected parent, making it a de novo (new) mutation in most cases.

Management and Treatment[edit | edit source]

There is no cure for 16p11.2 deletion syndrome, but treatment is focused on managing symptoms and supporting the individual's development. This may include therapies such as speech therapy, occupational therapy, and physical therapy, as well as educational support. Medications may also be prescribed to manage specific symptoms such as seizures.

Epidemiology[edit | edit source]

The prevalence of 16p11.2 deletion syndrome is estimated to be approximately 1 in 20,000 to 1 in 30,000 individuals worldwide. However, this may be an underestimation due to undiagnosed or mildly affected cases.

Research[edit | edit source]

Ongoing research is focused on understanding the genetic and biological mechanisms underlying 16p11.2 deletion syndrome. Studies are also aimed at identifying effective treatments and interventions to improve the quality of life for affected individuals.

See Also[edit | edit source]


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Contributors: Prab R. Tumpati, MD