Living with Chromosome 15q11.2 deletion syndrome
A small missing piece of chromosome 15 that can cause delays, behavior differences, and learning needs, though some people have no signs.
Understanding Chromosome 15q11.2 deletion syndrome
Features vary widely. The most common are developmental, motor, and language delays, behavior and emotional problems, attention deficit disorders, and autism spectrum disorder. Others may include birth defects and seizures. Some people have no apparent physical, learning, or behavior problems. The deletion may happen for the first time in a person or be inherited from a parent.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Global developmental delay
- Motor delays
- Attention deficit (ADHD)
- Reading difficulty (dyslexia)
- Behavior differences
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 a missing piece of chromosome 15 at q11.2. It can happen for the first time in a person or be inherited from a parent.
Also known as: 15q11.2 bp1-bp2 microdeletion syndrome; 15q11.2 microdeletion syndrome; del(15)(q11.2); monosomy 15q11.2
Patient organizations
- Simons SearchlightChromosome 15q11.2 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 15q11.2 deletion syndrome.
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