Living with Paternal uniparental disomy of chromosome 6
A chromosome pattern with slow growth before birth, temporary diabetes in newborns, and a large tongue.
Understanding Paternal uniparental disomy of chromosome 6
It is described by slow growth before birth, temporary neonatal diabetes (high blood sugar in newborns), and a large tongue (macroglossia). Signs are noticed during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before birth
- Temporary diabetes in newborns
- Large tongue (macroglossia)
- Breathing trouble in newborns
- Enlarged liver or heart
- Small lower jaw (micrognathia)
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 6 come from the father, which causes the condition.
Also known as: paternal uniparental disomy of chromosome type 6; upd(6)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 6.
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