22q11.2 deletion syndrome: MedlinePlus Genetics (2024)

Description

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.

22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. People with 22q11.2 deletion syndrome commonly have heart abnormalities that are often present from birth, recurrent infections caused by problems with the immune system, and distinctive facial features. In affected individuals, the muscles that form the roof of the mouth (palate) may not close completely, even though the tissue covering them does, resulting in a condition called submucosal cleft palate. The abnormal palate is often highly arched and there may be a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula). Submucosal cleft palate can also interfere with normal speech by causing air to come out of the nose during speech, leading to nasal-sounding speech. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones.

Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty reading, performing tasks involving math, and problem solving. Children with this condition often need help changing and adapting their behaviors when responding to situations. Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention-deficit/hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorder that affect communication and social interaction.

Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.

Frequency

22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mistaken for other disorders with overlapping features.

Causes

Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together.

Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Some studies suggest that a deletion of this gene may contribute to behavioral problems as well. The loss of another gene, COMT, in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. The loss of additional genes in the deleted region likely contributes to the varied features of 22q11.2 deletion syndrome.

Learn more about the genes and chromosome associated with 22q11.2 deletion syndrome

  • COMT
  • TBX1
  • chromosome 22

Inheritance

The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well.

Other Names for This Condition

  • 22q11.2DS
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Conotruncal anomaly face syndrome (CTAF)
  • Deletion 22q11.2 syndrome
  • DiGeorge syndrome
  • Sedlackova syndrome
  • Shprintzen syndrome
  • VCFS
  • Velo-cardio-facial syndrome
  • Velocardiofacial syndrome

Additional Information & Resources

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Clinical Trials

Scientific Articles on PubMed

References

  • Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletionsyndrome: genetics, neuroanatomy and cognitive/behavioral features keywords.Child Neuropsychol. 2005 Feb;11(1):5-19. doi: 10.1080/09297040590911185. Citation on PubMed
  • Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, HabelA, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J;International 22q11.2 Deletion Syndrome Consortium. Practical guidelines formanaging patients with 22q11.2 deletion syndrome. J Pediatr. 2011Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. Noabstract available. Citation on PubMed or Free article on PubMed Central
  • Fine SE, Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM,Emanuel BS. Autism spectrum disorders and symptoms in children with molecularlyconfirmed 22q11.2 deletion syndrome. J Autism Dev Disord. 2005 Aug;35(4):461-70.doi: 10.1007/s10803-005-5036-9. Citation on PubMed or Free article on PubMed Central
  • McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V,Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D,Bartlett SP, Whitaker LA, Zackai EH. Craniosynostosis: another feature of the22q11.2 deletion syndrome. Am J Med Genet A. 2005 Aug 1;136A(4):358-62. doi:10.1002/ajmg.a.30746. Citation on PubMed
  • McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome.1999 Sep 23 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA,Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R)[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1523/ Citation on PubMed
  • McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome(DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. Citation on PubMed
  • Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, ChoiCH, 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 disordersin mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad SciU S A. 2006 May 16;103(20):7729-34. doi: 10.1073/pnas.0600206103. Epub 2006 May9. Citation on PubMed or Free article on PubMed Central
  • Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. JPediatr. 2005 Jul;147(1):90-6. doi: 10.1016/j.jpeds.2005.03.007. No abstractavailable. Citation on PubMed
  • Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil ResRev. 2008;14(1):3-10. doi: 10.1002/ddrr.2. Citation on PubMed or Free article on PubMed Central
  • Solot CB, Sell D, Mayne A, Baylis AL, Persson C, Jackson O, McDonald-McGinnDM. Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices forDiagnosis and Management. Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-999. doi:10.1044/2019_AJSLP-16-0147. Epub 2019 Jul 22. Citation on PubMed or Free article on PubMed Central
  • Sullivan KE. The clinical, immunological, and molecular spectrum of chromosome22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol.2004 Dec;4(6):505-12. doi: 10.1097/00130832-200412000-00006. Citation on PubMed
  • Vorstman JAS, Morcus MEJ, Duijff SN, Klaassen PWJ, Heineman-de Boer JA, BeemerFA, Swaab H, Kahn RS, van Engeland H. The 22q11.2 deletion in children: high rateof autistic disorders and early onset of psychotic symptoms. J Am Acad ChildAdolesc Psychiatry. 2006 Sep;45(9):1104-1113. doi:10.1097/01.chi.0000228131.56956.c1. Citation on PubMed
  • Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, JooK, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N,Matsuoka R. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct25;362(9393):1366-73. doi: 10.1016/s0140-6736(03)14632-6. Citation on PubMed
22q11.2 deletion syndrome: MedlinePlus Genetics (2024)

FAQs

Is 22q11 deletion syndrome genetically inherited? ›

A parent with 22q has a 50% chance of passing it on to his or her offspring. However, only 10% of people “inherit” 22q from a parent. The remaining 90% develop 22q as a new mutation, meaning the missing piece of chromosome 22 happens spontaneously.

What is the catch 22 genetic mutation? ›

CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It results from a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome.

How many genes are missing in DiGeorge syndrome? ›

Each person has two copies of chromosome 22 — one inherited from each parent. If a person has DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes.

Is DiGeorge syndrome a genetic pattern? ›

If neither parent has DiGeorge syndrome, the risk of having another child with it is thought to be less than 1 in 100 (1%). If 1 parent has the condition, they have a 1 in 2 (50%) chance of passing it on to their child.

What are the odds of having 22q11? ›

The chances of having an affected child is 50% (1 in 2) for each pregnancy. Every person with 22q11 deletion syndrome is different and has different issues. Doctors cannot tell you what these problems might be. Many people have 22q11 deletion syndrome because their Mum or Dad has it too.

Can 22q11 deletion syndrome be detected before birth? ›

Diagnosis and Tests

DiGeorge syndrome can be detected prenatally based upon prenatal ultrasound results and amniocentesis. If not detected prior to delivery, your healthcare providers will likely diagnose DiGeorge syndrome soon after your child is born.

What is the IQ of a 22q person? ›

Mild intellectual delay or learning disability is present in the majority of individuals with 22q11. 2DS, with the average IQ around 70. The majority of individuals with 22q11. 2DS will have an IQ in the range of 55-85 (general population average is 100).

What organ is missing in DiGeorge syndrome? ›

Features of DGS include an absent or hypoplastic thymus, cardiac abnormalities, hypocalcemia, and parathyroid hypoplasia (See "History and Physical" below). Perhaps, the most concerning characteristic of DGS is the lack of thymic tissue, because this is the organ responsible for T lymphocyte development.

What are the facial features of DiGeorge syndrome? ›

Abnormal facies (Hypertelorism, short down slanting palpebral fissures, tubular nose with anteverted nostrils, short philtrum, carp mouth, mandibular hypoplasia, cleft palate) Thymic aplasia or hypoplasia. Cleft palate. Hypocalcemia/hypoparathyroidism early in life.

Is DiGeorge syndrome more common in males or females? ›

It occurs equally among males and females and across all racial backgrounds. In most cases 22q appears sporadically and babies born with it have no family history of this syndrome.

Does DiGeorge syndrome affect intelligence? ›

For older children (WISC-III, 10 children), 76.9% had Mental Retardation (15.4% moderate MR, 61.5% mild MR), and 23.1% got low Global IQ scores (7.7% borderline, 15.4% low normal).

What type of immune disorder is DiGeorge syndrome? ›

Angelo DiGeorge, who described the syndrome as consisting of low T cells, recurrent infections, and heart defects. DGS is a form of primary immunodeficiency (PI) characterized by: Heart defects.

What is the life expectancy of a person born with 22q11 deletion syndrome? ›

One to two percent of children born with this syndrome have a life expectancy of two to three years; however, most individuals reach adulthood and can live a life span into the fifties. Early treatment should be considered for the most severe issues with this condition to prolong life expectancy.

Is 22q a form of Down syndrome? ›

It is believed to be the second most common genetic disorder behind Down's Syndrome, yet most have never heard of it! Because each person diagnosed with 22q presents a unique set of the possible 180+ symptoms, it is difficult for even the best doctors to recognize.

Can people with DiGeorge syndrome have kids? ›

Although affected women have a normal female karyotype (46,XX) and will develop normal secondary sex characteristics, they will not begin a menstrual period or be able to carry a pregnancy [12]. DiGeorge syndrome patients without immunodeficiency may not be at any increased for infertility.

References

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