22q11.2 Deletion Syndrome
What is 22q11.2 Deletion Syndrome?
Loss of genetic information at key genomic locations can lead to disease. 22q11.2 deletion syndrome is caused by the deletion of a region of chromosome 22 at a designated position called q11.2. The symptoms of 22q11.2 deletion syndrome vary widely. Major clinical presentations include congenital heart defects, palatal abnormalities, learning difficulties, recurrent infections caused by immune system malfunction and characteristic facial features (small and low-set ears, short width of eye openings, hooded eyes, and relative long face). Individuals with 22q11.2 deletion syndrome often have psychiatric illnesses and autoimmune disorders as well.
Synonyms
- DiGeorge syndrome
- 22q11.2DS
Loss of genetic information at key genomic locations can lead to disease. 22q11.2 deletion syndrome is caused by the deletion of a region of chromosome 22 at a designated position called q11.2. The symptoms of 22q11.2 deletion syndrome vary widely. Major clinical presentations include congenital heart defects, palatal abnormalities, learning difficulties, recurrent infections caused by immune system malfunction and characteristic facial features (small and low-set ears, short width of eye openings, hooded eyes, and relative long face). Individuals with 22q11.2 deletion syndrome often have psychiatric illnesses and autoimmune disorders as well.
22q11.2 deletion syndrome is the most frequent chromosome microdeletion syndrome. The prevalence of this condition is estimated to be 1 in 4,000 people. It is plausible that the disease is under-diagnosed due to its diverse clinical presentations.
| Name | Abbreviation |
|---|---|
| DiGeorge syndrome | DiGeorge syndrome |
| 22q11.2DS | 22q11.2DS |
The cause of 22q11.2 deletion syndrome is the deletion of a 2.5-3 megabase (Mb) DNA sequence on the long arm (or q arm) of chromosome 22. In the majority of the cases, the deletion occurs de novo (not inherited from a parent). Only in 10% of the cases, the deletion is inherited. 22q11.2 deletion syndrome has an autosomal dominant inheritance pattern, where the deletion only appears in one allele (the deletion is inherited from one parent). In most affected patients, the deleted region contains 30-40 genes, whose cellular functions are yet to be determined. It has been speculated that two of the deleted genes, TBX1 and COMT, are critical for normal heart and cognitive development. Partial deletion of TBX1 and COMT has been associated with heart and cognitive defects.
Figure 1. The structure of Chromosome 22. Red box labels chr22p11.2, the site of deletion.
More than 69% of patients with 22q11.2 deletion syndrome have congenital heart defects, abnormal palate development, developmental delay, characteristic facial features, immune system malfunction, and learning difficulties. Less than 50% of affected individuals display hypocalcemia (too little calcium in the blood), feeding difficulties, hearing loss, abnormalities in kidneys, larynx, and trachea, growth hormone deficiency, seizures, and central nervous system abnormalities. Notably, affected individuals may also present autism spectrum disorder, and other psychiatric illnesses such as anxiety, attention deficit disorder, repetitive behaviors, and difficulty with social interactions.
| Name | Description |
|---|---|
| Seizures | Seizures |
| Hypocalcemia | Hypocalcemia |
| Hearing loss | Hearing loss |
| Autism | Autism |
| Autoimmune disorders | Autoimmune disorders |
| Learning difficulties | Learning difficulties |
| Congenital heart disease | Congenital heart disease |
| Skeletal abnormalities | Skeletal abnormalities |
| Growth hormone deficiency | Growth hormone deficiency |
| Palatal abnormalities | Palatal abnormalities |
The diagnosis of 22q11.2 deletion syndrome is established by identifying the single allele deletion at the 22q11.2 position. Approximately 85% of the affected individuals present a 2.54-Mb deletion (Figure 1). A small fraction of affected individuals have atypical or smaller deletions.
Genomic testing methods such as Chromosomal microarray (CMA) or targeted deletion analyses (FISH or quantitative PCR) to detect recurrent deletions in the affected individual can discover the 22q11.2 deletion.
Treatments and proper management are offered based on patients’ symptoms and circumstances. Notably, infants with immune system malfunction should not be immunized with live vaccines such as oral polio or MMR. Genetic counseling is highly recommended for individuals with a family history of 22q11.2 deletion syndrome and for asymptomatic siblings to the affected individuals. Early diagnosis can help to better manage the disease.
Depending on the clinical manifestation of the disease, the long-term outlook for each person can vary significantly. For example, patients with severe congenital heart defects or compromised immune systems may pass away prematurely. Early diagnosis and proper management of the symptoms can provide a better prognosis for the affected individuals.
Infants with immune system malfunction should not be immunized with live vaccines such as oral polio or MMR.
Genetic counseling is highly recommended for individuals with a family history of 22q11.2 deletion syndrome and for asymptomatic siblings to the affected individuals.
Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D. COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biol Psychiatry. 2005 Jul 1;58(1):23-31
Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ, Scambler PJ, Lindsay E. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006 May 16;103(20):7729-34.
McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. GeneReviews. February 28, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1523.
22q11.2 distal deletion syndrome, Unique, Rare Chromosome Disorder Support Group www.rarechromo.org https://www.rarechromo.org/media/information/Chromosome%2022/22q11.2%20distal%20deletion%20syndrome%20FTNP.pdf
22q11.2 deletion syndrome. (NIH Genetic and Rare Disease Information Center). Retrieved June 16, 2020, from https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome
Last updated 14 Jul 2020, 11:15 PM
14 Jul 2020, 11:15 PM
Hi everyone,
The 22q11.2 Deletion Syndrome community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful.
Best regards.
RareShare Team
Last updated 8 Apr 2011, 02:00 AM
8 Apr 2011, 02:00 AM
Dr. Sprintzen in NY? I believe that's how his name is spelled. He's been conducting studies on VCFS for almost 15 years at Upstate U in NY. (My sister, who has VCFS, has been a part of the study since she was 3... she is 17 now.)
Last updated 19 Sep 2010, 11:14 PM
19 Sep 2010, 11:14 PM
This syndrome needs awareness in the medical and professional community. 1 in 2000 people are affected, 99% will have learning difficulties and 30% will develop a mental illness. Spread the word
Last updated 19 Sep 2010, 11:14 PM
19 Sep 2010, 11:14 PM
This syndrome needs awareness in the medical and professional community. 1 in 2000 people are affected, 99% will have learning difficulties and 30% will develop a mental illness. Spread the word
Last updated 21 Sep 2008, 11:00 PM
21 Sep 2008, 11:00 PM
Hi my name is Lindsey..My son Lukas has 22q11.2 micro-duplication. I know that this is for the deletion but my son's syndrome isn't on here as of yet so I thought maybe people that are familiar with deletion have also heard of duplication. If anyone knows about it or has even heard about it please let me know. Thanks, Lindsey You can e-mail me at lindseysuks@yahoo.com
2 Sep 2008, 09:28 PM
I just have to say that I am delighted to have the opportunity to share with others on a global scale on issues related to rare chromosome disorders and 22q11.2 deletion in particular. It really is extraordinary to think of the connections that can be made worldwide and to know that this knowledge is for everyone. I sincerely hope that in particular those that are affected by rare chromosome disorders benefit the most and are encouraged to join in the discussions thereby helping them to realise their full potential and helping the rest of us to learn from them. I for one have a lot to learn and they have a lot to teach me.
| Title | Description | Date | Link |
|---|---|---|---|
| 22q11 Ireland |
22q11 Ireland provides help and support for individuals and families affected by 22q11.2 deletion, DiGeorge Syndrome, and V.C.F.S. Through education, research, outreach and advocacy 22q11 Ireland seeks to raise awareness of this little known condition. |
03/20/2017 | |
| 22q11.2 Deletion Syndrome Foundation |
22q is a non-profit organization that was founded by parents in an effort to bring awareness and support for this virtually unknown condition. The organization is built on the belief that, although there may be no cure for the deletion, through identification, appropriate treatment, research and education there can be, in fact, a better quality of life for those living with this condition and their families. |
03/20/2017 | |
| Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation |
The Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of -- and not affiliated with -- any particular institution. |
03/20/2017 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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I have a daughter born 1971 with trisomi 22 (11q22q translocation) and Pierre Robin Syndrome.
I would love to exchange photographs and expiriences with parent with similar child
I am associated with 22q11 ireland and want to be able to help Liam in any which way I can.
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