Living with Distal 22q11.2 microduplication syndrome
A rare chromosome condition with a wide range of effects, including delays in development, learning, and behavior.
Understanding Distal 22q11.2 microduplication syndrome
Effects vary widely. People may have delays in development, intellectual disability, and behavior differences, along with mild differences in facial features. Some also have heart conditions present from birth, vision or hearing loss, kidney or genital differences, or seizures. Not everyone with the duplication has symptoms. In many cases, it is passed down from a parent who has no symptoms.
Signs & symptoms
Symptoms vary a lot from person to person. GARD's summary describes these features:
- Delays in development
- Intellectual disability
- Behavior differences
- Heart conditions present from birth
- Vision or hearing loss
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
The condition comes from a duplicated piece of the long arm of chromosome 22. GARD lists autosomal dominant inheritance, meaning one changed copy can be passed from a parent, who may have no symptoms.
Also known as: distal dup(22)(q11.2); distal trisomy 22q11.2
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Distal 22q11.2 microduplication syndrome.
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