Living with Chromosome 16 trisomy
A rare chromosome condition in which a person has three copies of chromosome 16 instead of two.
Understanding Chromosome 16 trisomy
This means there is extra genetic material from chromosome 16 in the body. GARD says symptoms vary and are very difficult to predict. Some babies are born smaller than normal and can have a heart defect.
Signs & symptoms
Symptoms vary and are hard to predict. GARD says some babies have:
- Smaller size at birth
- Heart defect
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
GARD says it occurs when a person has three copies of chromosome 16 instead of two.
Patient organizations
- Chromosome Disorder OutreachChromosome 16 trisomy · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 16 trisomy.
Explore research for Chromosome 16 trisomy
Explore actively recruiting Chromosome 16 trisomy studies with HealthSpark.
Find actively recruiting studies for Chromosome 16 trisomy 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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