Living with Chromosome 1q21.1 duplication syndrome
An extra piece of chromosome 1 that can cause developmental delay, learning differences, and behavior or mental health differences.
Understanding Chromosome 1q21.1 duplication syndrome
Some people have developmental delay and intellectual disability that is typically mild to moderate. Features of autism spectrum disorder can occur. Expressive language tends to be more affected than understanding. In childhood there may be a higher risk of ADHD and behavior problems. Psychiatric or mood conditions occur in some people, usually in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Larger head size (macrocephaly)
- Wide-set eyes (hypertelorism)
- Frontal bossing
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 1 at q21.1. It is listed as autosomal dominant.
Also known as: 1q21.1 microduplication syndrome; 1q21.1 recurrent microduplication; 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders); chromosome 1q21.1 duplication syndrome, isolated cases; dup(1)(q21.1); trisomy 1q21.1
Patient organizations
- Simons SearchlightChromosome 1q21.1 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 1q21.1 duplication syndrome.
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