Living with Distal trisomy 16q
A rare chromosome condition with delayed development, low muscle tone, distinct facial features, and sometimes heart and other organ differences.
Understanding Distal trisomy 16q
People with this condition have delays in development, severe intellectual disability, and low muscle tone. They may have distinct facial features and differences in the hands and feet, such as long, slender fingers or clubfoot. Heart, urinary and genital, and spine differences can occur. Low platelet counts and repeated infections have also been reported. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Delays in development
- Severe intellectual disability
- Low muscle tone (hypotonia)
- Heart differences
- Clubfoot or long, slender fingers
- Low platelets and repeated infections
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 changes in a person's genes cause this condition. The summary describes it as an extra copy of part of the long arm of chromosome 16.
Also known as: distal duplication 16q; distal trisomy type 16q; telomeric duplication 16q; trisomy 16qter
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 Distal trisomy 16q.
Explore research for Distal trisomy 16q
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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