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22q11.2 Deletion Syndrome:

  • Is caused by a missing section (microdeletion) of chromosome 22.
  • Is the most common microdeletion syndrome; affecting as many as one out of every 1000 pregnancies;
  • Is found in 1 in 68 children born with heart defects;
  • Is the most common cause of syndromic cleft palate;
  • Can cause many other problems such as immunodeficiency leading to difficulty fighting infection and autoimmune disease; issues with feeding and growth; hearing loss; breathing difficulties; kidney and spine differences; autism, learning and behavioral differences;
  • Has wide variability amongst individuals with the deletion or the duplication.
  • Some individuals have almost all of the above issues and others have almost none;
  • This confounding fact alone, which is quite unique as chromosomal syndromes go, continues to present challenges.

Information on 22q Deletion signs and symptoms, medical treatment, growth charts and more can be found in the Symptoms & Care section of the website.

Download the 22q11.2 Deletion Fact Sheet

22q11.2 Duplication Syndrome:

  • Is about half as common as the 22q11.2 deletion (found in about 1/4000 newborns).
  • Is caused by an extra piece of genetic material on the 22nd chromosome.
  • Is caused by an extra piece of genetic material on the 22nd chromosome. In most cases, the extra genetic material contains about 40 genes;
  • Happens in individuals born with an extra set of genes on chromosome 22. Many people come to attention because someone thought they might have the 22q11.2 deletion syndrome, because they are big or small, because they have a heart defect or palatal abnormality, because they have developmental or behavioral differences or because a relative has it.
  • Is associated with autism or autism spectrum disorder in 14% to 25% of children with the duplication. However, the true rate of autism may not be known because some individuals with the duplication may not be diagnosed.
  • About 70 percent of individuals with the duplication inherit it from one of their parents. In other cases, the duplication is not inherited and occurs as a random event during the formation of the child. Any person with the duplication has a 50% chance of having a child with the same duplication.

Download the 22q11.2 Duplication Fact Sheet

The unique characteristics of 22q Duplication Syndrome can be found below:

The 22q11.2 Duplication is caused by an extra piece of genetic material on the 22nd chromosome. In most cases, the extra genetic material contains about 40 genes.

22q11.2 Duplication Syndrome is not detectable by routine genetic testing (called karyotyping.) Most individuals with 22q11.2 duplication are identified either by something called array genomic hybridization (array GH) testing or by multiplex ligation-dependent probe amplification (MLPA) testing for 22q11.2 deletion syndrome. Both of these tests are performed with blood work but can be diagnosed in pregnancy using cells from the placenta or the amniotic fluid.

About 70 percent of individuals with the duplication inherit it from one of their parents. In other cases, the duplication is not inherited and occurs as a random event during the formation of the child. Any person with the duplication has a 50% chance of having a child with the same duplication.

Although there is no cure for the 22q11.2 duplication, many therapies and medical interventions are available to help address its associated symptoms. The earlier these symptoms are detected, the more doctors can do to help. That’s why, when diagnosed with this condition, evaluation is recommended in the following areas:

  • Audiology
  • Cardiology
  • Child development and psychology
  • Cleft palate
  • Ear, nose and throat
  • Feeding/nutrition
  • Genetics
  • Immunology
  • Neurology, Urology and Endocrinology, if recommended
  • Orthopedics

Even if a child doesn’t have a known heart defect, a cardiologist’s evaluation is important, although the likelihood of finding a previously unrecognized problem is low. An evaluation usually includes a chest X-ray, an electrocardiogram, and an echocardiogram.

Children with a 22q11.2 duplication may have learning style differences requiring some extra help in school. In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational, and speech therapy. That’s why it’s important to have developmental testing on a regular basis. If your child is noted to be behind in any areas, appropriate interventions will be recommended.

Children with the duplication should see a plastic surgeon who specializes in cleft palate and velopharyngeal incompetence. In addition, they should see a speech and language pathologist who can also evaluate speech, language and — if they’re young — feeding. Some centers have specialized computer methods of objectively measuring speech to decide if intervention is necessary. Some teams also have growth specialists and dentists who monitor face, jaw, and tooth growth.

This evaluation may be done as part of the cleft palate team work-up. Children with a cleft palate often have trouble with ear infections and can benefit from seeing an ear, nose and throat (ENT) doctor — also called an otolaryngologist. In addition, an ENT can help children who have problems with “noisy” breathing as a result of their disorder. Since some children with a 22q11.2 duplication may also have hearing loss, your child would benefit from a hearing test (audiogram), as well.

Occasionally, children with a chromosome 22q11.2 duplication have problems with low calcium when they’re newborns and may need a calcium supplement. During this time, the cardiologist or pediatrician will handle low calcium problems. If the problem continues, your child may need to see an endocrinologist (hormone doctor). In addition, some older children have problems with growth (called short stature) and may require growth hormone therapy. An endocrinologist can help.

Children with a 22q11.2 duplication often have feeding difficulties, especially when they’re newborns. A pediatrician who specializes in feeding can help. Your child’s healthcare provider will only recommend an evaluation if a problem already exists.

Some newborns with a 22q11.2 duplication have problems with their immune systems, so they may have trouble with infections or certain vaccines. Most children outgrow this problem by their first birthdays, but some of them continue to have trouble into later childhood and adulthood. A child with the duplication should be evaluated by an immunologist at least once.

Some children with a 22q11.2 duplication have a seizure disorder (unrelated to low calcium) or balance problems which require a neurologist’s services. A child’s healthcare team should determine if an initial evaluation with a neurologist may be helpful.

Most children and adults with the 22q11.2 duplication do quite well both medically and as members of their families and communities at large. As with anything that is unexpected, coming to terms with the diagnosis is often difficult at first but becomes easier as more information becomes available. Families can benefit from the opportunity to meet other children and adults with the 22q11.2 duplication and/or to converse with them through diagnosis-specific internet sites. In addition, attendance at family meetings and picnics; contacting support networks; and sending children to camps specifically designed for those individuals with a 22q11.2 syndromes is often helpful, as families realize they are not alone. Learn more about coping with the diagnosis.

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