Living with Distal trisomy 10q
A rare chromosome condition with slow growth, low muscle tone, and delays in development, starting in infancy.
Understanding Distal trisomy 10q
People with this condition grow more slowly before and after birth. They may have low muscle tone (hypotonia), delays in development and movement, and a pattern of specific facial features. Signs show up in the newborn and infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Slow growth before and after birth
- Low muscle tone (hypotonia)
- Delays in development
- Delays in movement skills
- A pattern of specific facial features
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 eye disease 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
- Eye disease specialists (ophthalmologists); 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 (trisomy) of part of the long arm of chromosome 10.
Also known as: chromosome 10, distal trisomy 10q; distal duplication 10q; distal trisomy type 10q; telomeric duplication 10q; trisomy 10qter
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 10q.
Explore research for Distal trisomy 10q
Explore actively recruiting Distal trisomy 10q studies with HealthSpark.
Find actively recruiting studies for Distal trisomy 10q with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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