Living with Maternal uniparental disomy of chromosome 20
A very rare change in which both copies of chromosome 20 come from the mother, mainly linked to slow growth.
Understanding Maternal uniparental disomy of chromosome 20
The main feature is slow growth before and after birth. A small head, minor differences in appearance, and delays in development have sometimes been reported. It is most often found through a pregnancy with mosaic trisomy 20. It starts in pregnancy and the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before and after birth
- Short stature
- Feeding difficulties in infancy
- Developmental delay
- Low muscle tone
- Low growth hormone level
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 come from the mother. GARD says it is most often found through a pregnancy with mosaic trisomy 20.
Also known as: maternal uniparental disomy of chromosome type 20; maternal upd(20); maternal upd20 (uniparental disomy of chromosome 20); mulchandani-bhoj-conlin syndrome; uniparental disomy, maternal, chromosome 20; upd(20)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 20.
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