Living with Mosaic genome-wide paternal uniparental disomy
A rare chromosome condition that can cause features of Beckwith-Wiedemann syndrome and a higher chance of tumors.
Understanding Mosaic genome-wide paternal uniparental disomy
Some cells have genetic material from only the father, while others have material from both parents. This leads to a varied presentation that mostly includes features of Beckwith-Wiedemann syndrome and a higher chance of several types of tumors. Features of Angelman syndrome and temporary newborn diabetes might also be expected. Signs are seen during pregnancy or in the newborn period.
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
This condition results from a mix of cells that carry only the father's genetic material and cells that carry material from both parents. GARD says changes in genes (also called variants) cause it.
Also known as: androgenetic/biparental mosaicism; genome-wide paternal uniparental disomy mosaicism; mosaic genome-wide paternal upd
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 Mosaic genome-wide paternal uniparental disomy.
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