Living with 15q11q13 microduplication syndrome
A genetic condition that can bring behavior and learning differences, low muscle tone, delayed language, and seizures.
Understanding 15q11q13 microduplication syndrome
It is also called dup15q11-q13 syndrome. People with this condition can have neurobehavioral differences, low muscle tone (hypotonia), and learning and thinking challenges. Language is often delayed, and seizures can occur. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Autism
- Attention deficit (ADHD)
- Low muscle tone (hypotonia)
- Delayed speech and language
- Intellectual disability
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.
- 4Connect with expert centers
Dup15q Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: Dup15q Alliance
- 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 Dup15q Alliance and other patient organizations
- 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 extra genetic material at 15q11-q13, and it is listed as autosomal dominant.
Also known as: 15q11-q13 duplication syndrome; 15q11-q13 microduplication syndrome; 15q11.2-q13.1 duplication syndrome; 15q11q13 duplication syndrome; autism susceptibility 4; chromosome 15q11-q13 duplication syndrome
Patient organizations
- Dup15q Alliance15q11q13 microduplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 15q11q13 microduplication syndrome.
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