Living with Complete trisomy 20 syndrome
A chromosome condition with an extra copy of chromosome 20, often found as a mosaic, with spine, muscle tone and learning differences.
Understanding Complete trisomy 20 syndrome
The mosaic type, with the extra copy in only some cells, is the most common and is one of the more common chromosome findings in prenatal testing. Reported features include spine differences, low muscle tone, lifelong constipation, sloped shoulders and significant learning disabilities despite normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD's summary says reported features include:
- Spine differences (stenosis, fused vertebrae, kyphosis)
- Low muscle tone (hypotonia)
- Lifelong constipation
- Sloped shoulders
- Significant learning disabilities, with normal intelligence
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
Trisomy 20 usually results from an error when an egg or sperm cell develops. The mosaic type usually results from errors in cell division soon after fertilization.
Also known as: chromosome 20 trisomy
Patient organizations
- Chromosome Disorder OutreachComplete trisomy 20 syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Complete trisomy 20 syndrome.
Explore research for Complete trisomy 20 syndrome
Explore actively recruiting Complete trisomy 20 syndrome studies with HealthSpark.
Find actively recruiting studies for Complete trisomy 20 syndrome 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Complete trisomy 20 syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Complete trisomy 20 syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Complete trisomy 20 syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.