Living with Mosaic trisomy 2
A rare chromosome condition with signs that vary widely, from slow growth before birth and birth defects to developmental delay.
Understanding Mosaic trisomy 2
Signs vary widely and depend on how many cells are affected and where they are in the body. Features may include slow growth before birth, birth defects, distinctive facial features, developmental delays, and intellectual disability. When it is found in early pregnancy through chorionic villus sampling (CVS), the affected cells may be only in the placenta, so amniocentesis may be advised to confirm. It is not inherited.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Slow growth before and after birth
- Delayed motor skills
- Eyes set widely apart
- Flat middle of the face
- Low amniotic fluid during pregnancy
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
GARD says it is not inherited. It is caused by a random error in cell division during early development of the embryo.
Also known as: mosaic trisomy 2 syndrome; mosaic trisomy chromosome 2; mosaic trisomy type 2; trisomy 2 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 2.
Explore research for Mosaic trisomy 2
Explore actively recruiting Mosaic trisomy 2 studies with HealthSpark.
Find actively recruiting studies for Mosaic trisomy 2 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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