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Genetic condition · Clinically reviewed

DiGeorge syndrome, the most common microdeletion, and why lifelong specialist care matters.

22q11.2 deletion syndrome touches the heart, immune system, calcium metabolism, palate, learning and mental health. A specialist 22q clinic pulls it all together.

A radiographer guides a patient onto the bed of an advanced 3 Tesla MRI scanner in a London imaging suite

Why trust this guide

  • 01

    Clinically reviewed

    Written by our editorial team and reviewed by a registered UK clinician before publication.

  • 02

    Sourced from guidance

    Checked against BSGM, ESID, international 22q11.2 consortium guidance and peer-reviewed sources.

  • 03

    Current for 2026

    Reflects modern UK practice including microarray as first-line diagnosis and specialist 22q clinic care.

Key facts

22q11.2 deletion at a glance.

The essentials, in plain English - what it is, why it varies so much, and how UK genetics services confirm it.

  • What it is

    22q11.2 deletion syndrome, the most common microdeletion in humans, caused by loss of ~3 Mb of chromosome 22 including the TBX1 gene.

  • How common

    Around 1 in 3,000 to 6,000 live births. Often under-recognised because the phenotype is so variable.

  • Inheritance

    Autosomal dominant. Over 90% of cases are de novo. Around 10% inherited from a mildly affected parent.

  • Other names

    DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome. The older CATCH22 mnemonic is now discouraged as stigmatising.

  • Core features

    Cardiac defects, palatal anomalies, thymic hypoplasia with immunodeficiency, hypocalcaemia, characteristic facies and learning difficulties.

  • Diagnostic gold standard

    Chromosomal microarray (aCGH). FISH for 22q11.2 remains a rapid confirmatory test in neonates.

Why this guide matters

A shared plan, across many specialties.

22q11.2 deletion is a multi-system, lifelong condition. These three principles run through every section that follows.

  • One team, one 22q clinic

    Specialist 22q services at tertiary centres coordinate cardiology, immunology, endocrinology, speech, psychiatry and genetics.

  • Age-shifted surveillance

    Priorities move from cardiac and hypocalcaemia in infancy to speech and learning in childhood, then psychiatric health in adolescence and adulthood.

  • Family testing changes futures

    Cascade testing of parents and siblings finds mildly affected relatives and reframes reproductive choices for the whole family.

How the diagnosis is made

From first suspicion to a clear genetic answer.

The steps a UK paediatric or genetics team will typically follow, from prenatal or neonatal clues through to microarray and family testing.

  1. 01

    Suspecting

    Prenatal suspicion

    A conotruncal cardiac anomaly, cleft palate or thymic aplasia on antenatal ultrasound triggers CVS or amniocentesis with microarray.

  2. 02

    Suspecting

    Neonatal presentation

    Cardiac lesion, hypocalcaemic seizures, feeding difficulty or absent thymus on chest imaging prompt urgent genetic testing.

  3. 03

    Suspecting

    Later childhood clues

    Speech delay, nasal speech, recurrent infections, learning difficulties or a subtle facial gestalt often bring the diagnosis later.

  4. 04

    Confirming

    Microarray (aCGH) or MLPA

    Chromosomal microarray is the gold standard for microdeletions and detects atypical or nested deletions FISH may miss.

  5. 05

    Confirming

    FISH 22q11.2

    A fast confirmatory test when the deletion is clinically obvious, particularly in the neonatal cardiac unit.

  6. 06

    Planning

    Baseline system screen

    Echocardiogram, ionised calcium, PTH, lymphocyte subsets with naive T-cells, immunoglobulins, renal ultrasound and audiology.

  7. 07

    Planning

    Family testing and counselling

    Both parents are offered testing. Genetic counselling covers the 50% recurrence risk and reproductive options including PGD.

Typical timeline: a genetic answer within days of a suggestive scan or examination.

Features

What 22q11.2 deletion looks like across systems.

The phenotype is genuinely variable. Below are the core systems affected and the features that push teams towards earlier specialist input.

  • Congenital heart disease

    Around 75% of children have a conotruncal defect - tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, VSD or right aortic arch.

  • Palatal anomalies

    Around 70% have velopharyngeal insufficiency, cleft palate (often submucous), bifid uvula, hypernasal speech or nasal regurgitation.

  • Immunodeficiency

    Thymic hypoplasia reduces T-cell numbers in around 75%. Complete DiGeorge with a SCID-like picture is rare but life-threatening.

  • Hypocalcaemia

    Parathyroid hypoplasia gives neonatal hypocalcaemic seizures, tetany, long QT and adult osteoporosis in around 60%.

  • Characteristic facies

    Hooded eyelids, tubular nose, narrow mouth, micrognathia, small ears, midface hypoplasia and a long face - often subtle.

  • Learning and developmental

    Around 90% have some degree of learning difficulty, typically mild to moderate, with a non-verbal profile and executive dysfunction.

  • Adult psychiatric risk

    Around 25 to 30% of adults develop schizophrenia - a 25-fold increase over the general population. ADHD, autism, anxiety and OCD are also common.

  • Red flag - complete DiGeorge

    Absent thymus with a SCID-like T-cell picture is a paediatric emergency needing tertiary immunology and thymic transplant assessment.

Also seen

Beyond the core systems.

  • Renal anomalies in around 30% - agenesis, dysplasia, reflux and hydronephrosis.
  • Skeletal features including scoliosis, polydactyly and club foot.
  • Feeding and gastrointestinal problems - reflux, dysmotility and constipation.
  • Hearing loss and recurrent otitis media.
  • Ophthalmic findings - strabismus, posterior embryotoxon and cataract.
  • Endocrine issues - thyroid dysfunction and growth hormone deficiency.
  • Dental enamel hypoplasia.
  • Autoimmune disease - ITP, autoimmune thyroid and juvenile idiopathic arthritis.

Management

How 22q11.2 deletion is managed in the UK.

Care is organised around a specialist 22q clinic with clear pathways for cardiac, immune, endocrine, palatal, developmental and mental-health needs.

  • Specialist 22q clinic

    A multidisciplinary team at a tertiary centre (Great Ormond Street, Birmingham Children's and specialist commissioned services) coordinates care across the lifespan.

  • Cardiac surgery

    Specialist paediatric cardiac repair at centres including Great Ormond Street, Birmingham, Southampton, Newcastle, Leeds and Glasgow, with lifelong adult congenital heart follow-up.

  • Immunology and vaccines

    Lymphocyte subset monitoring, delayed live vaccines when T-cells are low, selective IVIG, PJP prophylaxis and thymic transplant for complete DiGeorge.

  • Calcium and vitamin D

    Alfacalcidol or calcitriol plus calcium and magnesium supplementation, with regular biochemistry to keep calcium safe long-term.

  • Palate and speech

    Speech and language therapy, pharyngoplasty and specialist maxillofacial surgery for velopharyngeal insufficiency and cleft palate repair.

  • Learning and education

    Formal developmental assessment, EHCP, specialist teaching, occupational and physiotherapy input tailored to a non-verbal learning profile.

  • Mental health

    Structured psychiatric screening from adolescence, early treatment of depression, anxiety and psychosis, with cardiac and metabolic monitoring of antipsychotics.

  • Genetic counselling

    Cascade family testing, reproductive counselling covering the 50% offspring risk, PGD and prenatal diagnosis options.

What this guide is based on

The sources behind every claim on this page.

International consortium guidance, UK specialist society standards and tertiary-centre care pathways, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your specialist 22q team knows your history and can tell you which parts apply to you. If in doubt, get in touch with them.

  • International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome (2023).

  • European Society for Immunodeficiencies (ESID). Diagnostic criteria and management of DiGeorge syndrome.

  • British Society for Genetic Medicine (BSGM) and NHS Genomic Medicine Service. Chromosomal microarray as first-line test.

  • Great Ormond Street Hospital. 22q11.2 deletion syndrome multidisciplinary care pathway.

  • Royal College of Psychiatrists. Guidance on psychiatric surveillance in 22q11.2 deletion syndrome.

Red flags

When 22q11.2 needs urgent attention.

Most day-to-day care is planned. These situations aren\'t and need a fast route into specialist services.

  • Neonatal hypocalcaemic seizures

    Any newborn with a conotruncal cardiac lesion and seizures should have ionised calcium and PTH checked and urgent genetic testing.

  • Complete DiGeorge (athymic)

    Absent thymus with a SCID-like T-cell profile is a paediatric emergency - refer to tertiary immunology for thymic transplant assessment.

  • Long QT with hypocalcaemia

    Severe hypocalcaemia prolongs QT and can trigger arrhythmia. Treat calcium urgently and monitor ECG.

  • Adolescent psychiatric change

    New psychosis, marked mood change or self-harm in a young person with 22q11.2 needs urgent specialist psychiatric review.

  • Aspiration and severe feeding failure

    Nasal regurgitation, aspiration or failure to thrive needs speech and language, ENT and dietetic input, sometimes with PEG feeding.

  • Antipsychotic cardiac interaction

    Choice of antipsychotic must account for QT, existing cardiac repair and metabolic risk. Clozapine is used cautiously in some patients.

  • Missed diagnosis in a mildly affected parent

    A newly diagnosed child means both parents should be tested - a mildly affected parent has a 50% risk of a more severely affected child.

  • Transition to adult services

    Loss to follow-up at 16 to 18 is a well-known risk. Insist on a warm handover to adult 22q, ACHD, immunology and psychiatry teams.

  • Autoimmune flare

    ITP, autoimmune thyroid disease and juvenile idiopathic arthritis are all more common - low threshold for specialist review.

Living with it

A lifelong condition, with a coordinated plan.

Four practical anchors that families and adults with 22q11.2 tell us make the biggest difference year to year.

A quiet reminder

Every 22q story is different.

The phenotype is genuinely variable. Two people with the same deletion may live very different lives.

  1. 01 Coordinated

    One team, one plan

    A specialist 22q clinic pulls cardiology, immunology, endocrinology, speech, psychiatry and genetics into a single coordinated plan.

  2. 02 Lifelong

    Surveillance across the lifespan

    Screening changes with age - hypocalcaemia and cardiac in infancy, learning and speech in childhood, psychiatric review in adolescence and adulthood.

  3. 03 Family

    Test parents and siblings

    Cascade testing changes future pregnancies and can pick up mildly affected relatives who benefit from surveillance.

  4. 04 Support

    Charities that get it

    Max Appeal!, Unique, Contact and 22q11 Europe offer families and adults practical, condition-specific support.

Frequently asked

Everything families ask about DiGeorge syndrome.

Quick answers on inheritance, testing, complete DiGeorge and psychiatric risk.

  • What is DiGeorge syndrome?

    DiGeorge syndrome, more accurately called 22q11.2 deletion syndrome, is the most common microdeletion syndrome in humans. It is caused by loss of a small piece of the long arm of chromosome 22 that includes the TBX1 gene, and it produces a highly variable pattern of cardiac defects, palatal anomalies, thymic hypoplasia, low calcium, characteristic facial features and learning and psychiatric difficulties.

  • How is it inherited?

    It is autosomal dominant. In over 90% of children the deletion is de novo, meaning it happens for the first time in that pregnancy. In about 10% one parent carries the deletion, sometimes with very few features. Anyone with the deletion has a 50% chance of passing it to each child, so both parents are offered testing when a child is diagnosed.

  • How is it diagnosed?

    Chromosomal microarray (aCGH) is the gold standard because it detects the classic 3 Mb deletion as well as smaller nested or atypical deletions. FISH for 22q11.2 is a fast confirmatory test, useful in the neonatal cardiac unit. Prenatal diagnosis is possible by CVS or amniocentesis when a suggestive cardiac lesion is seen on scan.

  • What is complete DiGeorge?

    Complete or athymic DiGeorge is a rare severe form with no functioning thymus and a SCID-like picture of severe T-cell deficiency. It is a paediatric emergency needing tertiary immunology and, in selected patients, thymic tissue transplantation at specialist centres in the UK and Duke in the USA.

  • Why is psychiatric follow-up so important?

    Adults with 22q11.2 deletion have around a 25 to 30% lifetime risk of schizophrenia, roughly 25 times the general population risk, alongside higher rates of ADHD, autism, anxiety and OCD. Structured psychiatric screening from adolescence lets teams treat symptoms early and choose medication carefully around the cardiac and metabolic picture.

  • Where is this managed in the UK?

    Specialist 22q clinics at tertiary centres such as Great Ormond Street and Birmingham Children's Hospital coordinate cardiology, immunology, endocrinology, speech and language therapy, psychiatry and genetics, with clear pathways for transition to adult congenital heart disease, adult 22q and adult psychiatry services.

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