Health condition
22q11 deletion syndrome in adults
22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) continues into adulthood with its own agenda: calcium and thyroid monitoring, cardiac follow-up, a significantly raised risk of psychosis, and reproductive counselling - many adults remain undiagnosed.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
Which gene and test confirm it, who should be tested in the family, and which specialist to see.
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Caused by a deletion at chromosome 22q11.2; about 1 in 2,000-4,000 births - most cases are new, but an affected adult has a 50% chance of passing it on
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Adult health checklist: calcium and parathyroid function, thyroid, congenital heart follow-up, hearing, and mental health - around 1 in 4 develop a psychotic illness
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Diagnosis in adults is often missed: mild learning difficulties, nasal speech, hypocalcaemic episodes or treatment-resistant psychiatric illness can be lifelong unexplained threads
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Testing is by microarray or specific deletion analysis - simple and definitive
Understanding the condition
What it is and what happens next.
What causes it, how it is confirmed, and the testing and specialist routes available in the UK.
What it is and how it presents
The 22q11 deletion is the most common microdeletion in humans, and its milder end ages quietly into adult clinics under other names: 'borderline' learning difficulty, anxiety, recurring low calcium blamed on diet, a repaired heart murmur, velopharyngeal speech no one connected. Adulthood adds the syndrome's most serious dimension - schizophrenia-spectrum illness at roughly 25 times population rates - which argues for proactive mental health awareness rather than crisis-driven care, and calcium crashes during illness, surgery or pregnancy remain a lifelong trap.
Testing, surveillance and specialist care
A definitive test costs one blood sample, and the diagnosis reorganises care usefully: scheduled endocrine checks, cardiology review appropriate to any congenital lesion, psychiatric access with the deletion on the record, and genetic counselling that covers the 50% transmission risk and prenatal options for adults planning families. NHS clinical genetics services carry some of the longest waits in the health service, often many months for a first appointment, whereas private genetic testing and a specialist review can typically be arranged within around two weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a clinical geneticist coordinating multidisciplinary care. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any emergency symptoms.
Frequently asked
Common questions about 22q11 deletion syndrome in adults.
Quick, plain-English answers to what people ask us most.
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What is 22q11 deletion syndrome?
22q11 deletion syndrome (also called DiGeorge syndrome or velocardiofacial syndrome) is a genetic condition caused by a missing piece of chromosome 22. It can affect the heart, immune system, palate, and mental health, and features often persist or evolve into adulthood.
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What causes 22q11 deletion syndrome?
It is caused by a small deletion of genetic material on chromosome 22, usually occurring spontaneously during conception rather than being inherited from a parent. In a minority of cases, a parent also carries the deletion and can pass it on.
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What are the symptoms in adults?
Adults may have subtle facial features, learning or attention difficulties, anxiety or mood disorders, an increased risk of psychosis, immune problems, and congenital heart or palate issues diagnosed earlier in life. Presentation varies widely between individuals.
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Is 22q11 deletion syndrome serious?
It can be, particularly because of the associated heart defects, immune deficiency, and significantly increased risk of psychiatric conditions such as schizophrenia. Many adults, however, live full lives with the right monitoring and support.
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Is 22q11 deletion syndrome genetic?
Yes, it is caused by a deletion on chromosome 22. Most cases arise as a new (de novo) genetic change, but there is a 50% chance of passing it on if a parent carries the deletion, so genetic counselling is recommended for family planning.
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Can 22q11 deletion syndrome be treated?
There is no cure, but individual features can be managed effectively: cardiac defects may need surgery, immune problems may need specialist input, and mental health conditions respond to standard psychiatric treatment. Lifelong multidisciplinary follow-up is usually recommended.
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How is 22q11 deletion syndrome managed in adulthood?
Management is tailored to the individual's problems and may involve cardiology, endocrinology, immunology, and psychiatry input, alongside psychological support and educational or occupational adjustments where needed.
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Does 22q11 deletion syndrome affect life expectancy?
Life expectancy depends largely on the severity of any heart defect and immune dysfunction; many adults with milder presentations have a normal life expectancy with appropriate care.
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22q11 deletion syndrome vs autism spectrum disorder — what's the difference?
Some features overlap, such as social and communication difficulties, but 22q11 deletion syndrome is a specific genetic diagnosis confirmed by chromosomal testing, whereas autism is a behavioural diagnosis; the two can also co-occur in the same person.
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When should I see a doctor about 22q11 deletion syndrome, and how quickly can I be seen privately?
See a doctor if you have a family history, unexplained heart, immune, or psychiatric problems, or want genetic confirmation. NHS genetic assessment can take many months, while private genetic and specialist review is often available within around two weeks.