Living with Chromosome 17q12 duplication syndrome
An extra copy of a small piece of chromosome 17 that can cause delays, seizures, and behavior differences, though some people have mild or no signs.
Understanding Chromosome 17q12 duplication syndrome
Signs vary a lot, even in one family. Some people have no signs or very mild ones. Others have intellectual disability, delayed development (especially speech and gross motor skills), and a range of physical differences. Learning ability ranges from normal to severely affected. Seizures are common, and autism, schizophrenia, aggression, and self-injury have been reported.
Signs & symptoms
Symptoms vary a lot. GARD lists this feature as common, and the summary describes others:
- Changes in brain cortex development (cortical dysplasia)
- Delayed development, especially speech and movement
- Intellectual disability, from mild to severe
- Seizures
- Autism spectrum disorder
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 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 17 at q12. It is listed as autosomal dominant.
Also known as: 17q12 duplication syndrome; 17q12 microduplication syndrome; 17q12 recurrent microduplication; dup(17)(q12); trisomy 17q12
Patient organizations
- Simons SearchlightChromosome 17q12 duplication syndrome · United States
- 17q12 FoundationChromosome 17q12 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 17q12 duplication syndrome.
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