Living with Chromosome 17q21.31 duplication syndrome
An extra piece of chromosome 17 linked to behavior differences and trouble with social interaction, along with developmental delay.
Understanding Chromosome 17q21.31 duplication syndrome
GARD says behavioral disorders and poor social interaction seem to be the most consistent features. It lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Attention deficit (ADHD)
- Autism or autistic behavior
- Differences in the outer ear
- Fused toes
- Extra body hair
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 piece (duplication) of chromosome 17 at q21.31.
Also known as: 17q21.31 microduplication syndrome; dup(17)(q21.31); trisomy 17q21.31
Patient organizations
- Simons SearchlightChromosome 17q21.31 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 17q21.31 duplication syndrome.
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