Living with Maternal uniparental disomy of chromosome X
A change in which both X chromosomes come from the mother. It does not seem to harm health by itself.
Understanding Maternal uniparental disomy of chromosome X
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 is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Developmental delay
- Small head (microcephaly)
- Unclear external genitalia
- Joint stiffness (contractures)
- Swelling of the legs (lymphedema)
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 X chromosomes 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 x; upd(x)mat; upd(x)mat - maternal uniparental disomy of chromosome x
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 X.
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