Living with 14q11.2 microduplication syndrome
A rare chromosome condition that can bring developmental delay, speech difficulty, seizures, and behavior differences.
Understanding 14q11.2 microduplication syndrome
People with this condition can have developmental delay and mild to severe intellectual disability with speech problems. Epilepsy can occur. Other features may include distinct facial features, a smaller or larger head, behavior differences, repeated hand movements, poor balance (ataxia), low muscle tone, and cleft palate. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Low muscle tone (hypotonia)
- Small head size (microcephaly)
- Attention deficit (ADHD)
- Increased appetite and obesity
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
GARD says changes in genes (also called variants) cause this condition. The summary describes it as a chromosome change.
Also known as: dup(14)(q11.2); trisomy 14q11.2
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 14q11.2 microduplication syndrome.
Explore research for 14q11.2 microduplication syndrome
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- Eligibility is confirmed by the study team
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