Living with Maternal uniparental disomy of chromosome 1
A change in which a child gets both copies of chromosome 1 from the mother, usually with no effect on health.
Understanding Maternal uniparental disomy of chromosome 1
GARD says it most likely has no visible effect, except when the mother carries a recessive disease gene change and the child receives two copies of it. Signs may start in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain (failure to thrive)
- Feeding difficulties
- Low muscle tone in newborns
- Growth delay
- Hearing impairment
- Cataracts
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 1 come from the mother. Health effects arise only if the mother carries a recessive disease gene change and the child gets two copies of it.
Also known as: maternal uniparental disomy of chromosome type 1; upd(1)mat
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 1.
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