Living with Trisomy 8q
A rare chromosome condition with an extra piece of chromosome 8 that can affect development, the heart, and the face.
Understanding Trisomy 8q
Symptoms and severity depend on the size and place of the duplication and whether other chromosome differences are present. Commonly reported features include developmental delay, learning difficulties, heart defects, bone differences, genital or urinary differences, and distinctive facial features. It is noticed at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Learning disability
- Heart differences
- Cleft palate or cleft lip
- Small lower jaw (micrognathia)
- Short neck and stiff joints
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 the long arm of chromosome 8. Most cases are not inherited. In some cases a parent has a chromosome rearrangement, such as a balanced translocation or inversion, that raises the risk.
Also known as: duplication 8q; trisomy type 8q
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 8q.
Explore research for Trisomy 8q
Explore actively recruiting Trisomy 8q studies with HealthSpark.
Find actively recruiting studies for Trisomy 8q 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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