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PubMed This is a summary of 78 peer-reviewed journal articles Updated
Medical Genetics

A Guide to 22q11.2 Deletion Syndrome

At a Glance

22q11.2 Deletion Syndrome is a highly variable multisystem genetic condition. While it can cause diverse physical and neurodevelopmental symptoms, proactive monitoring and a multidisciplinary medical team allow individuals to manage the condition and lead full, independent lives.

Welcome to the comprehensive guide for 22q11.2 Deletion Syndrome (22q11.2DS). Whether you are a parent of a newly diagnosed child or an adult who has just received a diagnosis, this resource is designed to help you understand the condition, navigate the medical system, and advocate for the best possible care.

22q11.2 Deletion Syndrome is a multisystem genetic condition that presents with extreme variability—meaning it affects every person differently. While the long list of potential symptoms can seem overwhelming, it is a well-researched, manageable condition. With a multidisciplinary care team, proactive monitoring, and early intervention, individuals with 22q11.2DS can lead full, meaningful, and independent lives [1].

This guide is broken down into several distinct sections to help you easily navigate your care journey:

01

Introduction to 22q11.2 Deletion Syndrome

Learn the basics of 22q11.2 Deletion Syndrome (formerly DiGeorge or VCFS). Understand the diagnosis, variability of symptoms, and what it means for your care.

02

The Genetics and Biology of 22q11.2 Deletion Syndrome

Learn the genetics of 22q11.2 deletion syndrome. Understand the role of the TBX1 gene, how microdeletions occur, and if the condition is inherited or de novo.

03

Physical Symptoms and Manifestations

Learn about the physical symptoms of 22q11.2 deletion syndrome. Understand heart defects, cleft palate, low calcium, and immune challenges like T-cell issues.

04

Neurodevelopment and Psychiatric Risks

Understand the neurodevelopmental and psychiatric risks of 22q11.2 deletion syndrome. Learn about cognitive profiles, ADHD, anxiety, and schizophrenia.

05

Diagnosing and Understanding Tests

Learn how 22q11.2 deletion syndrome is diagnosed. Understand genetic tests like CMA, FISH, and NIPT, and learn how to read your pathology report effectively.

06

Building Your Care Team

Learn how to build a care team for 22q11.2 deletion syndrome. Understand the core specialists needed, baseline tests, and how to prepare for your first visit.

07

The Lifelong Journey and Transition to Adulthood

Learn how to navigate the transition to adulthood with 22q11.2 deletion syndrome. Discover late-onset conditions, care priorities, and living strategies.

Common questions in this guide

What is 22q11.2 Deletion Syndrome?
22q11.2 Deletion Syndrome is a multisystem genetic condition that affects every person differently. It can impact various body systems, including the heart, immune system, palate, and cognitive development.
How is 22q11.2 Deletion Syndrome managed?
Because the syndrome affects multiple body systems, management requires a multidisciplinary care team. With proactive monitoring and early intervention, individuals can manage their symptoms and lead meaningful, independent lives.
What tests are needed after a new 22q11.2DS diagnosis?
Following a diagnosis, international clinical guidelines recommend a specific set of baseline tests to evaluate your heart, immune system, calcium levels, and kidney function. You should discuss scheduling these right away with your doctor.
Does 22q11.2 Deletion Syndrome only affect children?
No, it is a lifelong condition. While early childhood care focuses on physical symptoms and early intervention, clinical priorities change over time. Preparing for a safe transition from pediatric to adult healthcare is a critical part of lifelong management.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many patients with 22q11.2 deletion syndrome do you currently treat, and what ages are they?
  2. 2.Can you help me connect with a multidisciplinary 22q clinic, or help me coordinate care between different specialists?
  3. 3.What baseline tests do you recommend we schedule right away based on the international clinical guidelines?

Questions For You

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References

References (1)
  1. 1

    22q11.2 deletion - a tiny piece leading to a big picture.

    McDonald-McGinn DM

    Nature reviews. Disease primers 2020; (6(1)):33 doi:10.1038/s41572-020-0169-x.

    PMID: 32327654

This guide is for informational purposes only and does not replace professional medical advice. Always consult your multidisciplinary care team regarding the management and treatment of 22q11.2 Deletion Syndrome.

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