Living with Diploid-triploid mosaicism
A genetic condition in which some cells have an extra full set of chromosomes, affecting growth, muscle tone, and development.
Understanding Diploid-triploid mosaicism
A person has some cells with three copies of each chromosome (69 total, triploid) and some with the usual two copies (46 total, diploid). Having two or more cell types is called mosaicism. Symptoms may include low muscle tone, slow growth, distinct facial features, joined or webbed fingers or toes, and unusual skin pigmentation. Intellectual disability may be present.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these:
- Low muscle tone (hypotonia)
- Slow growth
- Distinct facial features
- Joined or webbed fingers or toes (syndactyly)
- Unusual skin pigmentation
- Intellectual disability
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
It is caused by an abnormal number of chromosomes. Some cells have 69 chromosomes (triploid) and some have the usual 46 (diploid).
Patient organizations
- Chromosome Disorder OutreachDiploid-triploid mosaicism · United States
You are more than your diagnosis
Perspectives from people navigating life with Diploid-triploid mosaicism.
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