Living with Paternal uniparental disomy of chromosome X
A chromosome pattern where the X chromosome comes from the father, which does not seem to harm health in most cases.
Understanding Paternal uniparental disomy of chromosome X
GARD says it does not seem to have a harmful effect on a person's features. A recessive condition is possible if the father carries a gene change and the child inherits two copies of it. In that case, the features depend on the inherited condition.
Signs & symptoms
GARD lists these symptoms, which may depend on which inherited condition is involved:
- Delays in development
- Intellectual disability
- Short height
- Low muscle tone
- Infertility
- Short neck and low hairline at the back
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
The X chromosome copies come from the father. Health problems occur only if the father carries a recessive gene change and the child inherits two copies of it.
Also known as: paternal uniparental disomy of chromosome type x; upd(x)pat; upd(x)pat - paternal 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 Paternal uniparental disomy of chromosome X.
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