A Guide to 22q11.2 Deletion Syndrome

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:

• Introduction to 22q11.2 Deletion Syndrome: Learn about the history of the name, the frequency of the condition, and key stabilizing facts.
• The Genetics and Biology of 22q11.2 Deletion Syndrome: Understand how the deletion happens, what it means on a biological level, and the role of the TBX1 gene.
• Physical Symptoms and Manifestations: Learn about how the syndrome affects the heart, immune system, calcium levels, palate, and kidneys.
• Neurodevelopment and Psychiatric Risks: Understand cognitive profiles, learning supports, behavioral risks, and proactive ways to protect mental health.
• Diagnosing and Understanding Tests: Learn about genetic testing (like CMA and FISH) and how to read a genetic pathology report.
• Building Your Care Team: Discover which medical specialists you need, the recommended baseline tests, and how to prepare for your visits.
• The Lifelong Journey and Transition to Adulthood: Understand how clinical priorities change over time and how to prepare for a safe transition to adult healthcare.