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: Introduction

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 are the symptoms of 22q11.2 deletion syndrome?

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

How is it treated?

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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