22q11.2 Deletion Syndrome: Causes and Symptoms

What Is 22Q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome (22q11DS), also called DiGeorge or velocardiofacial syndrome, is a genetic condition that can cause a wide variety of conditions that may be present at birth or develop later in life.

Most people with 22q11DS have some challenges in speech development. Many have learning disabilities, especially with math. They can also have behavioral challenges, such as anxiety, depression or more severe psychiatric concerns.

How Common Is 22Q11DS?

22q11.2 deletion syndrome is common. One out of every 2,000-4,000 people have the condition. Parents with 22q11DS with milder features may not be diagnosed until they are older, or parent a child with this condition.

What Causes 22Q11DS?

Everyone has 2 copies of chromosome 22 (piece of genetic material). We get one copy from our mother and one from our father. 22q11DS is caused by a deletion in the lower half of chromosome 22. People with 22q11DS have one normal copy of chromosome 22 and one copy with a deletion.

The deletion of chromosome 22 often happens at random. In some cases, a parent can have 22q11DS themselves. If a parent has 22q11DS, they can pass it onto their children.

What Are the Symptoms of 22Q11DS?

The symptoms of 22q11DS are different in every person, even within families where more than one person has the condition. Some people with 22q11DS have most of the problems listed, and some have few.

Behavior

• Anxiety, depression or other mood disorders
• Trouble paying attention or handling stress
• Typically work hard to please others

Development

• Developmental delays (such as taking longer than usual to sit, walk or talk than other children of the same age)
• Problems with feeding and swallowing
• Learning problems

Physical

• Heart defects
• Immune deficiency (low immune system)
• Low calcium levels or platelet counts in the blood
• Palate (roof of the mouth) abnormalities
• Nasal-sounding speech
• Low muscle tone (hypotonia)
• Scoliosis (curved spine)
• Thyroid problems

Rev. 8/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treat any medical conditions.