Living with Trisomy 20p
A rare chromosome condition with an extra piece of chromosome 20 that can affect learning, speech, and the heart.
Understanding Trisomy 20p
Smaller duplications tend to be milder than larger ones. Reported features include intellectual disability, developmental and speech delay, poor coordination, dental problems, spine bone differences, distinctive facial features, and heart problems. Because many cases involve a change on another chromosome too, it's hard to know which signs come only from the duplication.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Developmental and speech delay
- Poor coordination or walking differences
- Dental problems
- Spine bone differences
- Distinctive facial features
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
It is caused by an extra piece of chromosome 20. Most cases come from a healthy parent who has a balanced translocation or inversion. Some occur by chance in families with normal chromosomes.
Also known as: 20p partial trisomy syndrome; dup(20p); duplication of 20p; partial duplication of chromosome 20p; partial duplication of the short arm of chromosome 20; partial trisomy of chromosome 20p
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 Trisomy 20p.
Explore research for Trisomy 20p
Explore actively recruiting Trisomy 20p studies with HealthSpark.
Find actively recruiting studies for Trisomy 20p with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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