22q11.2 deletion syndrome

People with 22q11.2 deletion don’t typically have any difficulty conceiving a child. Whether or not they are able to effectively parent a child may be influenced by how severely affected an individual is. Any person with 22q11.2 deletion has a 50% chance to pass it on to any child that they have. Genetic testing is available preconception (before pregnancy), during pregnancy, as well as after delivery. For individuals with 22q11.2 deletion syndrome, meeting with a genetic counselor when at reproductive age may be beneficial to review the chance of passing it on and discuss available testing options if interested. A genetic counselor in your area can be found on the National Society of Genetic Counselor’s "Find a Genetic Counselor" page of the website: https://www.nsgc.org/page/find-a-genetic-counselor.

If a new diagnosis of 22q11.2 deletion syndrome is made in a family, both parents should be offered testing for the condition, especially if one has any symptoms of 22q11.2 deletion syndrome. There is about a 7% chance that a person inherited the syndrome from a parent. Some labs routinely offer parental testing depending on the test ordered to see if genetic changes are inherited or occurred new in a child as well as to help with the interpretation of other genetic variants.

If a parent is identified with 22q11.2 deletion syndrome, all of their children should be offered testing for 22q11.2 deletion syndrome. Additionally your genetic counselor will help assess your family history to see if other individuals, such as parents or siblings, are at risk.

If neither parent has 22q11.2 deletion syndrome, we would believe that the condition occurred new in the one child and that the risk of other siblings to have the condition is less than 1%. That being said, the risk for siblings to have 22q11.2 deletion syndrome in this type of scenario is not 0%. This is because one parent may have a very low level of cells with 22q11.2 deletion syndrome that cannot be detected or that only their eggs or sperm have the deletion while the rest of the cells in their blood do not. In these instances, your genetic counselor or healthcare provider will ask in depth questions about the health and development of your other children to determine if they may have symptoms and if testing should be offered. Genetic counselors can be found on the National Society of Genetic Counselors website.

Other people and families living with 22q11.2 deletion syndrome can be found through support group websites. For example, the Chromosome 22 Central support group has a listing of ways to connect with other families living with the condition on their site: http://www.c22c.org/vcfs.htm. Other wonderful support groups who provide family contact options are listed below. You can also ask your genetic counselor if other families with 22q11.2 deletion syndrome in your area are willing to be contacted.

Around 70% of people with 22q11.2 deletion syndrome have palate defects. The most common, velopharyngeal incompetence (VPI) is a disorder that can affect swallowing and speech. VPI results in the improper closing of the velopharyngeal sphincter (soft palate muscle in the mouth) during speech, allowing air to escape through the nose instead of the mouth. This can occur due to a structural problem like a cleft palate or functional problem. Submucosal cleft palate (cleft that is covered over by the lining of the roof of the mouth) and/or a bifid uvula (cleft in the uvula) are also fairly common in individuals with 22q11.2 deletion syndrome, whereas overt cleft palate and cleft lip/palate are less commonly seen. Surgery may be recommended after one of these defects is seen and talking to your doctor will give you more information on the timing of any surgery.

Calcium concentration in the blood should be monitored carefully to avoid hypocalcemia (too little calcium), which can lead to seizures. To prevent this, extra calcium may be given. Additionally, providing a child with 22q11.2 deletion syndrome with speech therapy and educational help may help to lessen the level of delay and reach their highest potential. As it can be hard to tell if your child may be falling behind in terms of development, the International 22q11.2 Foundation Inc. has created guidelines of when children with 22q11.2 deletion syndrome generally acquire skills so that parents can let their child’s primary care provider know early and obtain the proper resources. This guideline can be found on their website at http://www.22q.org/resources-for-22q/for-families/parent-support/developmental-skills/.

Following a diagnosis of 22q11.2 deletion syndrome, an individual will likely need to see several doctors who focus in different fields of medicine. After initial diagnosis, appointments with cardiology, endocrinology, and immunology should be made. An ultrasound of the kidneys should be done to look for any structural defects of the kidneys. Your doctor may also consider ophthalmology (eye) and audiology (hearing) evaluations. If the child is a little older (~3-4 years old) at the time of diagnosis, an x-ray of the neck should be ordered as well. Depending on the age of the individual, speech and language ability should be assessed as well as overall development.

The Journal of Pediatrics published guidelines for healthcare providers in 2011 on how individuals with 22q11.2 deletion syndrome should be followed and the necessary evaluations after an individual is first diagnosed. These guidelines can be found at http://www.22q.org/wp-content/uploads/2016/02/22q11DS_Guidelines_Epublished_JPeds_May12th2011.pdfThe International 22q11.2 Foundation Inc also offers a medical checklist for parents to help keep tracks of what specialists their child with 22q11.2 deletion syndrome may see. The checklist can found on their website at http://www.22q.org/wp-content/uploads/2016/02/Medical-Needs-22q.pdf.

What specialists a person sees will depend by how they are affected by 22q11.2 deletion syndrome and their specific symptoms. Such specialists may include audiologists, cardiologists, endocrinologists, immunologists, ENT specialists, neurologists, psychiatrists, gastroenterologists and others. Early intervention may also be recommended and can be requested by a pediatrician or other health care provider or directly by parents.

If one parent is identified to have 22q11.2 deletion syndrome, there is a 50% chance for the each pregnancy to also be affected. If neither parent is identified to have 22q11.2 deletion syndrome, the chance is less than 1%, though not 0%. This is because of the possibility of mosaicism, or when all the cells in the body do not have the same genetic information. If cells in a parent’s egg or sperm have the deletion or only a small number of cells in the whole body of the deletion, it may not be picked up by genetic testing. To discuss the chance of having another child with 22q11.2 deletion syndrome, you can talk to a genetic counselor. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s "Find a Genetic Counselor" page of the website: https://www.nsgc.org/page/find-a-genetic-counselor.

22q11.2 deletion syndrome is a genetic condition that can cause heart defects, learning disabilities, recurrent infections, openings in the roof of the mouth (cleft palate), hearing loss, low calcium levels, and other health concerns.The condition is caused by a deletion of a small piece of genetic information, specifically a piece of the long arm (called the "q") on the 22nd chromosome at a location designated as 22q11.2. Individuals can be affected differently and individuals within the same family can have a difference in the severity of symptoms and health concerns.

School aged children with 22q11.2 deletion syndrome may have learning difficulties. It is important to communicate with your child’s school regarding how to set up an individualized education plan. A school guidance counselor or special education teacher may be a helpful contact at the school. Understood.org has information regarding how to navigate individual education plans for your child.

Chromosomes are made up of genes, and genes act as instructions for the body. Missing genetic information can lead to health concerns, because the body then has incomplete or changed instructions. Missing the 22q11.2 piece can cause heart defects, learning disabilities, recurrent infections, and other health problems. For more information on the range of symptoms and severity, please talk to a genetic counselor. A genetic counselor in your area can be found on the National Society of Genetic Counselor’s "Find a Genetic Counselor" page of the website: https://www.nsgc.org/page/find-a-genetic-counselor

All of us have 46 chromosomes in total, which are carry our genes and tell us how to grow and develop. Chromosomes are typically arranged into 23 pairs and labeled 1-22 based on size with the last pair (XX or XY) determining if we are male or female. In 22q11.2 deletion syndrome, there is a small piece missing on one of the number 22 chromosomes. That deletion is located on the long arm of the chromosome at a location designated as 22q11.2.

We are still learning about the purpose of each of the genes from that deleted region on chromosome 22. One gene deleted is TBX1 and researchers believe that when missing, it can lead to heart defects, openings in the roof of the mouth (cleft palate), hearing loss, low calcium levels in the blood, and the similar facial features often found in people with 22q11.2 deletion syndrome. The increased risk for behavior problems and mental illness may be due to the loss of another gene on the 22nd chromosome, called COMT. The loss of other genes in this region is what likely causes the other varied features of 22q11.2 deletion syndrome.

There is a wide range of symptoms found in people with 22q11.2 deletion syndrome, and each person can be affected differently even if they are in the same family. The health problems most often seen at birth are heart defects and openings in the roof of the mouth (cleft palate). People with the 22q deletion syndrome can also have similar physical features consisting of small ears with squared upper ear, hooded eyelids, and an uneven facial appearance when crying though these features may not be fully apparent until childhood. Individuals with 22q11.2 deletion syndrome commonly have concerns with their immune system and this can lead to frequent infections and autoimmune disorders, like Graves disease and rheumatoid arthritis, later in life. Other symptoms can include problems with breathing, feeding or gastrointestinal issues, kidney defects, and hypocalcemia (too little calcium in the blood). In some cases, untreated low calcium in the blood can lead to seizures. Slightly shorter height and spinal abnormalities have been reported as well.

In addition to physical and medical concerns, 22q11.2 deletion syndrome can also affect how a child learns. Children with 22q11.2 deletion syndrome often develop a little slower than their peers. They are expected to reach all their developmental milestones, but may do so later than their peers. As children with 22q11.2 deletion syndrome age, they may have learning problems in school as well. Some people with 22q11.2 deletion syndrome may have attention deficit hyperactivity disorder (ADHD) or symptoms of autism that affect their ability to interact socially with others. Also, it is more common for people with 22q11.2 deletion syndrome to have mental illness compared to the general population. This can include schizophrenia, depression, anxiety, and bipolar disorder.

To learn more about what specific symptoms are being seen in your child and to determine what services and resources are available, please talk to your doctor or genetic counselor.

Since children with 22q11.2 deletion syndrome can have problems fighting infections, it is very important that they receive the usual childhood immunizations. Some vaccines contain "live" virus, which is deactivated so that it won’t make people sick, but will help the immune system recognize the virus and build up antibodies to that virus. Infants with 22q11.2 deletion syndrome should have their doctor assess their immune system before giving "live" vaccines. There is a small chance that they could get sick from the small amount of live virus in the vaccine. Some studies have shown that giving individuals with 22q11.2 deletion syndrome live vaccines does not carry a significantly higher risk of adverse reactions compared with the general population, provided that they are not severely immunocompromised.

A consultation with an immunologist may be recommended beforehand to determine what is medically recommended for each individual and a child’s immune status will often be reevaluated before giving live vaccines. To find an immunologist in your area, please talk to your healthcare provider.

There is variable expression among people with 22q11.2 deletion syndrome, which means that each individual may have different signs and symptoms. Some people with very mild symptoms may never know that they have 22q11.2 deletion syndrome, while others may be much more severely affected. Even family members with 22q11.2 deletion syndrome can have different health problems.

Prenatal diagnosis is available for 22q11.2 deletion syndrome should parents wish to test the fetus during the pregnancy. Testing is generally offered to couples known to have a higher chance to have a child with 22q11.2 deletion syndrome, for example if a parent has 22q11.2 deletion, or if a heart defect is identified on ultrasound. The two types of procedures that might be offered to get a DNA sample from the fetus include chorionic villus sampling (CVS) or amniocentesis. A prenatal genetic counselor can walk you through how each test is done, the benefits, risks, and limitations. As with any prenatal testing, such tests are optional. Genetic counselors can be found on the National Society of Genetic Counselors website.

Additionally, there is also preconception testing available for 22q11.2 deletion syndrome. Preimplantation genetic diagnosis (PGD) is a way to test embryos for a certain disorder before implantation. PGD is not a standalone test and has to be done as part of in-vitro fertilization (IVF). For more information on the option of PGD, please talk to a genetic counselor familiar with assisted reproductive technologies. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s "Find a Genetic Counselor" page of the website: http://nsgc.org/p/cm/ld/fid=164.

As of January 2014, 22q11.2 deletion syndrome is not on the Recommended Uniform Screen Panel (RUSP). The RUSP is created by the Health Resources and Services Administration, and states use this list to guide what conditions they screen for on newborn screening. There has been discussion about adding screening for 22q11.2 deletion syndrome to the RUSP, but was rejected in 2012. This may change in the future and we recommending consulting with your doctor for any updates.

Having said this, some states do test for Severe Combined Immunodeficiency (SCID) on their newborn screening panels. Due to the nature of the test, it may pick up children with 22q11.2 deletion syndrome who have immune issues at birth (not enough T lymphocyte cells). It is important to know that this test is not specifically looking for 22q11.2 deletion syndrome and thus not does detect all cases. To determine what conditions are on your state’s newborn screen, please visit the Conditions Screened by State as part of the Baby’s First Test website at https://www.babysfirsttest.org/newborn-screening/states.

There are a few genetic tests that can diagnose 22q11.2 deletion including fluorescence in situ hybridization (FISH) testing, multiplex ligation-dependent probe amplification (MLPA), or chromosomal microarray (CMA). FISH and MLPA testing are more targeted tests and test for 22q11.2 deletion only. A CMA looks for small deletions or duplication through all of a person’s genetic information. Your healthcare provider, genetic counselor, and/or medical geneticist may choose one type of test or another based off of your insurance, the symptoms present, and how strongly they suspect 22q11.2 deletion syndrome. To further discuss these tests with a genetic counselors search the National Society of Genetic Counselors website.

There is clinical research being conducted on 22q11.2 deletion syndrome. Clinicaltrialw.gov can provide up-to-date information on research being conducted on 22q11.2 deletion syndrome. You can also ask your doctor or genetic counselor about current and future clinical research focusing on 22q11.2 deletion syndrome.

Though heart defects occur in many babies without 22q11.2 deletion syndrome, conotruncal malformations or outflow tract defects within the heart are more commonly seen in babies with 22q11.2 deletion syndrome. Common types of conotruncal heart defects are truncus arteriosus, transposition of the great arteries, double outlet of the right ventricle, and tetralogy of Fallot. If one of these heart defects is noticed on an ultrasound in pregnancy or after delivery, your doctor will likely refer you to a genetic counselor or medical geneticist to determine if testing for 22q11.2 deletion syndrome is recommended. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s "Find a Genetic Counselor" page of the website:https://www.nsgc.org/page/find-a-genetic-counselor

There is no cure or treatment that can eliminate all the symptoms of 22q11.2 deletion syndrome. Healthcare providers treat symptoms as they arise and will tailor a patient’s medical management to their specific health concerns. Most individuals with 22q11.2 deletion syndrome are followed by a team of doctors that specialize in various fields of medicine. These doctors and professionals may include audiologists, cardiologists, endocrinologists, immunologists, ENT (eyes, nose, and throat) specialists, neurologists, psychiatrists, gastroenterologists, and others. The International 22q11.2 Foundation Inc. offers a medical checklist for parents to help keep tracks of what specialists their child with 22q11.2 deletion syndrome may see. The checklist can found on their website at http://www.22q.org/wp-content/uploads/2016/02/Medical-Needs-22q.pdf.

Though the exact number is still under study, it may be up to 60% of people with the 22q deletion have some form of mental illness. Schizophrenia is a common diagnosis in this population and seems to affect 1 in 4 individuals, but other types of mental illness like depression, anxiety, and bipolar disorder can also be seen. Early diagnosis and treatment can help with management of symptoms. The International 22q11.2 Foundation Inc offers a mental checklist for teenagers and adults to help them assess their own mental health that can found at http://www.22q.org/wp-content/uploads/2016/01/Transition-factsheet-Mental-Health-20160113.pdf.

Approximately 70-90% of people with 22q11.2 deletion syndrome have learning difficulties of some kind. The severity of the learning disability can vary. Delays in reaching developmental milestones may include sitting, walking, babbling, saying their first words, and speaking in sentences. As children with 22q11.2 deletion syndrome grow older and attend school, they may experience difficulty with nonverbal processing, visual-spatial skills, complex verbal memory, attention, working memory, visual-spatial memory, and mathematics. As with any learning difficulties, awareness, early treatment, and a detailed learning plan like an Individualized Education Program (IEP) can help individuals do reach their full potential. For information and tips on how to help coordinate your child’s care, please visit the Educational Resources Page as part of the International 22q11.2 Foundation Inc.

Around 20% of people with 22q.11.2 deletion syndrome have autism spectrum disorder. This can affect their ability to interact socially with others. Awareness of the autism risk, early intervention, and a detailed learning plan like an Individualized Education Program (IEP) can help individuals do better in school. If you believe your child has symptoms has symptoms of autism, please talk to your doctor as they may want an autism-specific behavioral evaluation. Additional resources for those newly diagnosed or seeking more information are available from Autism Speaks, an organization that focuses on the science behind autism and supporting advocacy, at https://www.autismspeaks.org/.

22q11.2 deletion syndrome is considered an autosomal dominant disorder as one change or mutation is enough to cause the disorder. For a parent with this disorder, there is a 50% chance that any of their children will inherit the same deletion and have 22q11.2 deletion syndrome. It is believed that approximately 7% of individuals with 22q11.2 deletion syndrome have inherited the condition from a parent.

The other 93% of the time, 22q11.2 deletion syndrome is a new diagnosis in the family and not inherited from a parent. This is typically called a new or "de novo" mutation and can occur randomly during fetal development leading to a baby with 22q11.2 deletion syndrome. Although these people did not inherit 22q11.2 deletion syndrome from a parent, they have a 50% chance to pass it on to any child they have.

Genetic testing is able to determine if the condition was inherited or occurred new in an individual and it may beneficial to review such results with a genetic counselor. A genetic counselor in your area can be found on the National Society of Genetic Counselor’s "Find a Genetic Counselor" page of the website: https://www.nsgc.org/page/find-a-genetic-counselor.

Around 75% of people with 22q11.2 deletion syndrome have some type of congenital heart disease and researchers believe the increased risk for heart defects comes from the loss of the [I]TBX1[/I] gene that is in the missing part of the 22nd chromosome. Most commonly, these heart defects are conotruncal malformations where there is a problem with the way the blood leaves the heart to go to the body. Specific examples of conotruncal heart defects include tetralogy of Fallot, interrupted artic arch, ventricular septal defects, and truncus arteriosus. Surgery may be necessary depending on the severity of the defect. A meeting or exam by a heart doctor (cardiologist) may be recommended.

There are many foundations and support groups focused on 22q11.2 deletion syndrome. For example, Chromosome 22 Central, Inc. accepts donations in order to continue their mission of support and awareness of conditions related to chromosome 22 (http://www.c22c.org/donate.htm). They also have a c22c store from which purchases also support the group’s mission. (https://www.cafepress.com/c22c)

The International 22q11.2 Foundation, Inc also uses donations to spread awareness about 22q11.2 deletion syndrome and stimulate research. Donations can be made through their website at http://www.22q.org/support-the-foundation/donate-now.

Another organization accepting donations is the VCFS 22q11 Foundation (http://www.vcfsfa.org.au/pages/make-a-donation.php). Donations help to run the foundation and provide education and awareness about 22q11.2 deletion syndrome. This foundation is locally active in Australia and New Zealand.

There are a few genetic tests that can diagnose 22q11.2 deletion including fluorescence in situ hybridization (FISH) testing, multiplex ligation-dependent probe amplification (MLPA), or chromosomal microarray (CMA). All three are typically done from a blood sample and your genetic counselor or medical geneticist may choose one type of test or another based on your insurance and how strong the suspicion is of 22q11.2 deletion syndrome. Over 95% of people with a clinical presentation suggesting 22q11.2 deletion syndrome are able to receive a confirmation through genetic testing. A genetic counselor may be able to help facilitate genetic testing for you. Genetic counselors can be found on the National Society of Genetic Counselors website.

Clinicaltrials.gov can provide up-to-date information on research being conducted on 22q11.2 deletion syndrome. Chromosome 22 Central, Inc. also provides information about clinical research http://www.c22c.org/research.htm. Nationwide Children’s provides information about their personal clinical research related to 22q11.2 deletion syndrome https://www.nationwidechildrens.org/research/clinical-research/22q-clinical-research. For additional information on available clinical trials, please ask your doctor or genetic counselor.

The International 22q11.2 Foundation, Inc. (http://www.22q.org/resources-for-22q/clinics/) can help you find a center in the United States or elsewhere. A genetic counselor may also be able to recommend a clinic in your area. Genetic counselors can be found on the National Society of Genetic Counselors website.

Around half, or 50%, of individuals with 22q11.2 deletion syndrome will have hypocalcemia, or too little calcium in the blood. Giving extra calcium can help treat this symptom. If left untreated, low calcium in the blood can lead to seizures. The best person to help figure out if someone has hypocalcemia and order treatment is an endocrinologist, a doctor specially trained to diagnose and treat hormone imbalances. Endocrinologists in your area can be found by talking to your primary doctor or using the "Find an Endocrinologist" function at the American Association of Clinical Endocrinologists (https://www.aace.com/resources/find-an-endocrinologist).

It is estimated that around 1 in every 2000 to 1 in every 4000 babies are born with 22q11.2 deletion syndrome. However, it is believed that this may be an underestimate as individuals with mild symptoms may remain undiagnosed.

Noninvasive prenatal testing (NIPT) is a screening option for pregnant women, which gives a pregnant woman the option of having a blood test to determine the chances that the fetus has a chromosomal disorder. It was created to screen for Down syndrome, but many additional conditions have been added to the test including 22q11.2 deletion syndrome. Unfortunately, NIPT for 22q11.2 deletion syndrome is not as accurate as it is for Down syndrome. A 2015 study found a high number of false positives (80%) when testing fetuses for 22q11.2 deletion syndrome through NIPT. This implies that only 20% of the pregnancies with a positive result for 22q11.2 deletion syndrome actually had 22q11.2 deletion syndrome. Parents are recommended not to make decisions about the pregnancy solely based off of NIPT results. Diagnostic testing directly on a fetal DNA sample obtained with chorionic villus sampling (CVS) or amniocentesis can confirm or rule out 22q11.2 deletion syndrome accurately. More research needs to be conducted to better understand and improve the accuracy of NIPT for detection of 22q11.2 deletion syndrome.

If you have received a positive NIPT result for 22q11.2 deletion syndrome, talking to a prenatal genetic counselor may be beneficial as he/she can walk you through the risk of the result being a true positive based on the testing, your family history, and ultrasound findings. A genetic counselor can also discuss options for prenatal or post-delivery testing. Genetic counselors can be found on the National Society of Genetic Counselors website.

Though all three types of sample should give the same results, genetic testing for 22q11.2 deletion syndrome is most often done from a blood sample. Some labs may allow for a saliva sample to be submitted, but this is not usually the option they prefer.

People with 22q11.2 deletion syndrome should limit consumption of carbonated drinks, alcohol, and caffeine. Drinking alcohol and carbonated beverages, like soda, can increase risk for hypocalcemia (low levels of calcium in the blood). Additionally, consuming caffeine may worsen symptoms of anxiety. If you or your child feels that symptoms are worsening, please talk to your healthcare provider about the possible cause and treatments.

22q11.2 deletion syndrome has many other names. You may also hear it called

There are many support groups available for people with 22q11 deletion syndrome as well as their loved ones. Each support group is different and vary in how active they are and the aspects of 22q11.2 deletion syndrome they focus on. A few online support groups are listed below and you can also ask your genetic counselor or doctor if there are any in-person support groups in your area.

Though different health concerns can be noticed or start at different times, there is not typically an earlier- or later-onset form of 22q11.2 deletion syndrome, as the genetic change is present at conception. Sometimes it is suspicious that a child has 22q11.2 deletion syndrome from a heart defect or cleft palate (opening in the roof of the mouth) and thus genetic testing may be recommended. Other people though may not have their symptoms picked up until childhood or later depending on how they are affected by 22q11.2 deletion syndrome. Additionally some individuals with 22q11.2 deletion syndrome may go undiagnosed for years, particularly if their symptoms are very mild.

There are numerous other syndromes that have an overlap of symptoms with 22q11.2 deletion syndrome and a few of them, along with the overlapping symptoms, are listed below. If you are concerned about one of these other conditions, please talk to your doctor or genetic counselor.