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22q11.2 Deletion Syndrome

What is 22q11.2 deletion syndrome?

  • 22q11.2 deletion syndrome, also known as velocardiofacial syndrome (VCF) or DiGeorge syndrome, is caused by a deletion, or missing piece, of one copy of chromosome 22.
  • Chromosomes are the packaging structures inside our cells that hold the information for our body to grow and develop.
  • People usually have 2 copies of every chromosome – 1 inherited from their mother and 1 inherited from their father.

How does the deletion on chromosome 22 occur?

  • Most often the deletion happens randomly while an egg or sperm cell is being made. This means that more than 90% of individuals with 22q11.2 deletion syndrome are the first in their family to have this condition.
  • About 10% of the time the deletion is inherited from a parent.
  • Individuals with the syndrome have a 50% chance of passing on the deletion. It is only necessary to have a deletion in one copy of chromosome 22 for an individual to have features of 22q11.2 deletion syndrome.

What are the signs and symptoms?

The features of 22q11.2 deletion syndrome vary, even among family members. Some common signs and symptoms of individuals with 22q11.2 deletion syndrome may include:

  • Congenital heart disease
  • Palate abnormalities (cleft palate)
  • Velopharyngeal insufficiency (VPI)
  • Low calcium level (hypocalcemia due to hypoparathydrodism)
  • Feeding problems
  • Kidney abnormalities
  • Hearing loss
  • Chronic ear infections
  • Immune deficiency
  • Seizures
  • Skeletal abnormalities (such as flat feet, scoliosis)
  • Leg and foot pain
  • Psychiatric disorders
  • Learning difficulties
  • Autism spectrum disorder

Most individuals will have some but not all of the symptoms.

Medical care

While there is no cure for 22q11.2 deletion syndrome, some features are treatable. The key to caring for an individual with this condition is to identify features and manage them using the best available treatments.

Children with 22q11.2 deletion syndrome often need care from different health care specialists in addition to their primary care provider. Including:

  • Audiology
  • Cardiology
  • Child development and psychology
  • Endocrinology
  • Feeding/nutrition
  • Genetics and genetic counseling
  • Immunology
  • Pediatric otolaryngology/ear, nose & throat (ENT)
  • Neurology
  • Orthopedics
  • Speech-language pathology
  • Urology

Early intervention

Help Me Grow Program – birth to 3 years old

  • This is a free, in-home service that can help with your child’s developmental progress.
  • They often provide physical therapy, occupational therapy, and speech therapy based on your child’s needs.

Private therapies may benefit some children with 22q11.2 deletion syndrome who may need extra help in certain areas.

Resources and Support

Children’s Hospital Specialty Center
Velocardiofacial Syndrome Clinic
|2530 Chicago Avenue South
Minneapolis, MN 55404
612-874-1292

Children’s Hospital Specialty Center
Genetics and Genomics Program
2530 Chicago Avenue South
Minneapolis, MN 55404
612-813-7240

The Velo-Cardio-Facial Syndrome Educational Foundation
http://www.vcfsef.org

The International 22q11.2 Foundation
http://www.22q.org

Questions?

This sheet is not specific to your child but provides general information.  If you have any questions, please ask the doctors, nurses or genetic counselor working with your family.

For more reading material about this and other health topics, please call or visit the Family Resource Center library.

Last reviewed 4/2016

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This page is not specific to your child, but provides general information on the topic above. If you have any questions, please call your clinic. For more reading material about this and other health topics, please call or visit Children's Family Resource Center library, or visit www.childrensmn.org/educationmaterials.

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