Living with Maternal uniparental disomy of chromosome 16
A change in which a child gets both copies of chromosome 16 from the mother. It may slow growth before birth or raise the chance of birth differences.
Understanding Maternal uniparental disomy of chromosome 16
GARD says it might be linked to slow growth before birth and a higher chance of birth differences (congenital malformations). Some healthy carriers have also been reported. If the mother carries a recessive disease gene change, the child may receive two copies of it, and the effects depend on that disorder. It starts in pregnancy and the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary mentions slow growth before birth.
- Slow growth before birth
- Higher chance of birth differences
- Some people have no signs
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 digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); 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 16 come from the mother. Effects depend on whether the child also receives two copies of a recessive disease gene change that the mother carries.
Also known as: maternal uniparental disomy of chromosome type 16; upd(16)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 16.
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