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. More detailed information about the symptoms, causes, and treatments of 22q11.2 deletion syndrome is available below.
See full list of 34 symptoms of 22q11.2 deletion syndrome
See full list of 6 treatments for 22q11.2 deletion syndrome
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Read more about causes of 22q11.2 deletion syndrome.
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Prognosis for 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.
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Types of 22q11.2 deletion syndrome
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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)
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