Living with Mosaic trisomy 20
A rare chromosome condition that is often mild or has no signs, but can cause spine differences, low muscle tone, constipation, and skin color changes.
Understanding Mosaic trisomy 20
Most people have no signs. Others have a mild, subtle form with spine differences, low muscle tone, lifelong constipation, sloping shoulders, streaks of skin color change, and learning disabilities despite normal intelligence. More severe cases have developmental and speech delay, mild facial differences, and heart and kidney differences. Signs are seen during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spine differences
- Long-lasting constipation
- Low muscle tone in infancy (floppy infant)
- Skin color changes and light streaks
- Sloping shoulders
- Mild developmental delay
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
This condition is caused by an extra copy of chromosome 20 in some, but not all, of the body's cells. GARD says changes in genes (also called variants) cause it.
Also known as: mosaic trisomy 20 syndrome; mosaic trisomy chromosome 20; mosaic trisomy type 20; trisomy 20 mosaicism
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 Mosaic trisomy 20.
Explore research for Mosaic trisomy 20
Explore actively recruiting Mosaic trisomy 20 studies with HealthSpark.
Find actively recruiting studies for Mosaic trisomy 20 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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