Living with Maternal uniparental disomy of chromosome 22
A change in which a person gets both copies of chromosome 22 from the mother, which does not seem to harm health.
Understanding Maternal uniparental disomy of chromosome 22
GARD says it does not seem to have a harmful effect on health. There is a chance the person receives two copies of a recessive disease gene change that the mother carries. Then the effects depend on that disorder. It can be found in pregnancy, at birth, or in infancy.
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 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
Both copies of chromosome 22 come from the mother. Health effects arise only if the person also gets two copies of a recessive disease gene change that the mother carries.
Also known as: maternal uniparental disomy of chromosome type 22; upd(22)mat; upd(22)mat - maternal uniparental disomy of chromosome 22
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 Maternal uniparental disomy of chromosome 22.
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