Information for individuals with 22q11.2DS—quick introduction

The 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition that has many health issues associated. These involve many parts of the body. The health issues may be present at birth or arise later in life. 22q11.2 Deletion Syndrome used to be known as velo-cardio-facial syndrome or DiGeorge syndrome.

Disclaimer: The following information pages are provided for educational purposes only. They are not intended to be taken as medical advice. If you have questions or concerns, please discuss them with your doctor or healthcare provider.

What causes this?

22q11.2DS is caused by a missing piece (deletion) of genetic material (DNA). This missing DNA (deoxyribonucleic acid) is from chromosome 22.

DNA is found in all the cells inside a human body. Chromosomes are made up of DNA. Humans have 23 pairs of chromosomes in each cell. They are numbered from 1 to 22. We also have another pair of chromosomes that determines whether we are male or female.

Most often, a deletion in the 22q11.2 region of the chromosome is a new genetic change. This means that usually neither parent has the condition. However, anyone who has 22q11.2 Deletion Syndrome has a 50-50 chance of passing the 22q11.2 deletion to an offspring.

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What does "22q11.2 Deletion Syndrome" mean?

22q11.2DS name

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What are the signs and symptoms?

People with 22q11.2DS often have many kinds of signs and symptoms. Some features may be mild and others may be more serious.

Sometimes, the features of 22q11.2 Deletion Syndrome can be noticed at birth or in young children.

Some examples are:

  • Intellectual and developmental disabilities (ranging from very mild to severe)
  • Learning difficulties
  • Problems with how the palate works, that can cause nasal sounding speech
  • Congenital heart defects (birth defects of the heart)
  • Multiple infections as a child
  • Treatable psychiatric illnesses
  • Low calcium levels
  • Curvations of the spine many others

Also, other health issues can occur as someone with 22q11.2 Deletion Syndrome gets older. These features can include many treatable conditions:

  • Not enough calcium (can cause seizures)
  • Not enough, or too much, thyroid hormone
  • Nervous system problems like seizures or epilepsy
  • Other treatable illnesses like anxiety disorders or schizophrenia

22q11.2 Deletion Syndrome can cause many different combinations of health problems. This can make the illness hard for doctors to recognize. It is especially important to create a healthcare team with experts in many different areas. Together, they can help care for the health problems caused by 22q11.2 Deletion Syndrome.

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