Living with Paternal uniparental disomy of chromosome 20
A very rare chromosome pattern with high birth weight, early obesity, a relatively large head, and tall height.
Understanding Paternal uniparental disomy of chromosome 20
Main features are high birth weight or obesity beginning early in life, a relatively large head, and tall height. Most people were found during testing for a condition called pseudohypoparathyroidism type 1b. The extra paternal material is often only part of the long arm of chromosome 20.
Signs & symptoms
Symptoms vary from person to person. GARD describes these main features:
- High birth weight
- Obesity starting early in life
- Relatively large head (macrocephaly)
- Tall height
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 20, or parts of it, come from the father, which causes the condition.
Also known as: paternal uniparental disomy of chromosome type 20; paternal upd(20); paternal upd20; paternal upd20 (uniparental disomy of chromosome 20); upd(20)pat
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 20.
Explore research for Paternal uniparental disomy of chromosome 20
Explore actively recruiting Paternal uniparental disomy of chromosome 20 studies with HealthSpark.
Find actively recruiting studies for Paternal uniparental disomy of chromosome 20 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Paternal uniparental disomy of chromosome 20 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Paternal uniparental disomy of chromosome 20
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Paternal uniparental disomy of chromosome 20 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.