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Living with Mosaic trisomy 13

A form of trisomy 13 in which only some of the body's cells have an extra copy of chromosome 13.

Understanding Mosaic trisomy 13

Mosaic trisomy 13 is a form of trisomy 13 in which an extra copy of chromosome 13 is present in only some of the body's cells.

GARD describes this as trisomy 13 where the extra chromosome appears only in some cells of the body. GARD does not list other details for this condition.

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

Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
Ask 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 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

Bring these questions to your next doctor visit

Which tests confirm the mosaic pattern?

How might having only some cells affected change the features?

Which specialists should be on my child's care team?

Quick facts

This condition is caused by an extra copy of chromosome 13 in some, but not all, of the body's cells.

Also known as: trisomy 13 mosaicism

Patient organizations

Chromosome Disorder OutreachMosaic trisomy 13 · United States
Hope For TrisomyMosaic trisomy 13 · United States
Support Organization for Trisomy 18, 13, and Related DisordersMosaic trisomy 13 · United States

Source: NIH GARD · Mosaic trisomy 13GARD ID 10869 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Mosaic trisomy 13.

Explore the Mosaic trisomy 13 blog

Broader resource

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Explore research for Mosaic trisomy 13

Explore actively recruiting Mosaic trisomy 13 studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Mosaic trisomy 13 with HealthSpark. Share your city to explore research near you.

Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

HealthStoryfor Mosaic trisomy 13

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