Living with Chromosome 16p11.2 duplication syndrome
An extra copy of a small part of chromosome 16 that can affect learning, speech, behavior, and growth, though some people have no signs.
Understanding Chromosome 16p11.2 duplication syndrome
Common features include low weight, small head size, and developmental delay, especially in speech and language. About 80 percent have speech or language problems. ADHD is common, and about one in five has autism spectrum disorder. Seizures are possible but not seen in most people. Some people have no identified physical or behavioral differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Global developmental delay
- Small head size (microcephaly)
- Attention deficit (ADHD)
- Autistic behavior
- Anxiety
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 brain and nervous 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
- Brain and nervous system specialists (neurologists); 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 Simons Searchlight 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 it is caused by an extra copy (duplication) of a small piece of chromosome 16 at p11.2. It is listed as autosomal dominant.
Also known as: proximal 16p11.2 microduplication syndrome; proximal dup(16)(p11.2); proximal trisomy 16p11.2
Patient organizations
- Simons SearchlightChromosome 16p11.2 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 16p11.2 duplication syndrome.
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