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What is 22q11.2 deletion syndrome?

What is 22q11.2 deletion syndrome?

  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.

22q11.2 deletion syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 22q11.2 deletion syndrome, or a subtype of 22q11.2 deletion syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

22q11.2 deletion syndrome: Introduction

Types of 22q11.2 deletion syndrome:

Broader types of 22q11.2 deletion syndrome:

How serious is 22q11.2 deletion syndrome?

Prognosis of 22q11.2 deletion syndrome: The prognosis varies depending on the type and severity of symptoms that develop - some people have so few symptoms that they are never diagnosed. Prompt diagnosis and appropriate treatment in more severe cases can improve prognosis and quality of life.

What causes 22q11.2 deletion syndrome?

Causes of 22q11.2 deletion syndrome: see causes of 22q11.2 deletion syndrome

What are the symptoms of 22q11.2 deletion syndrome?

Symptoms of 22q11.2 deletion syndrome: see symptoms of 22q11.2 deletion syndrome

22q11.2 deletion syndrome: Testing

Diagnostic testing: see tests for 22q11.2 deletion syndrome.

Misdiagnosis: see misdiagnosis and 22q11.2 deletion syndrome.

How is it treated?

Doctors and Medical Specialists for 22q11.2 deletion syndrome: Medical Geneticist ; see also doctors and medical specialists for 22q11.2 deletion syndrome.
Treatments for 22q11.2 deletion syndrome: see treatments for 22q11.2 deletion syndrome

Name of 22q11.2 deletion syndrome

Main name of condition: 22q11.2 deletion syndrome


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