Living with 14q32 duplication syndrome
A rare chromosome condition that raises the chance of certain blood and bone marrow disorders in adulthood.
Understanding 14q32 duplication syndrome
It is caused by an extra piece of the long arm of chromosome 14. It increases the chance of adult-onset blood and bone marrow disorders (myeloproliferative neoplasms), including acute myeloid leukemia and essential thrombocythemia. Some people may progress to myelofibrosis or secondary acute myeloid leukemia. GARD lists onset as adult.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 blood and bone marrow specialists, cancer specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Cancer specialists (oncologists); 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 and other patient organizations
- 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 changes in genes (also called variants) cause this condition. It is a partial duplication of chromosome 14 and is listed as autosomal dominant.
Also known as: chromosome 14q32 duplication syndrome, 700-kb; dup(14)q(32); myeloproliferative neoplasms, familial, susceptibility to; predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication; trisomy 14q32
Patient organizations
- Chromosome Disorder Outreach14q32 duplication syndrome · United States
- Blood Cancer UnitedBlood or bone marrow disease · United States
- HealthTree FoundationBlood or bone marrow disease · United States
You are more than your diagnosis
Perspectives from people navigating life with 14q32 duplication syndrome.
Explore research for 14q32 duplication syndrome
Explore actively recruiting 14q32 duplication syndrome studies with HealthSpark.
Find actively recruiting studies for 14q32 duplication 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 14q32 duplication 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 14q32 duplication 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 14q32 duplication 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.