← All diseases

Genetic syndromes and other conditions

22q11.2 deletion syndrome (DiGeorge syndrome)

A disease present from birth, caused by a small missing piece of chromosome 22. Heart defects, frequent infections and learning difficulties are common. Symptoms vary greatly from person to person.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Genetic syndromes and other conditions” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

A small piece carrying 30 to 40 genes is missing from the middle of chromosome 22. This missing piece can affect almost any part of the body. The heart, the palate, the immune system and learning are most often affected. Symptoms can be very different even within the same family.

Which symptoms can occur?

Most people do not have all of these symptoms.

  • Heart defects present from birth
  • Frequent infections due to a weak immune system
  • Cleft palate, nasal speech and feeding difficulties
  • Low calcium in the blood; shaking or seizures because of it
  • Delay in walking and talking, learning difficulties
  • Developmental differences such as attention deficit and autism
  • Hearing problems and short stature
  • More mental health problems such as anxiety in adulthood

How is it diagnosed?

The diagnosis is usually made shortly after birth with a blood test. This test looks for the missing piece of chromosome 22. The heart, hearing and blood values are also checked.

Treatment and care

There is no treatment specific to the disease. The person is followed up regularly, and problems are treated as they appear. Surgery may be needed for a heart defect or cleft palate. Speech therapy, physiotherapy and feeding support help. Learning support at school is important. Psychological support can be given for mental health. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

In about 9 out of 10 cases it is not inherited; the missing piece occurs by chance. It is not caused by anything the parents did. If neither the mother nor the father has the disease, the risk for a new child is less than 1 in 100. If one of the parents is affected, the chance of passing it on is 1 in 2 in each pregnancy. A mildly affected parent may not know they have the disease. Genetic counselling guides the family.

Source: NHS: DiGeorge syndrome (22q11 deletion) · MedlinePlus Genetics: 22q11.2 deletion syndrome

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Europe)
How is it inherited?
Autosomal dominant
When does it usually start?
Any age
Gene(s) involved
TBX1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about DiGeorge (22q11)

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 7 active interventional studies for this disease. 5 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Genetic syndromes and other conditions: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:567 · ICD-11 LD44.N0

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.