Living with Duplication/inversion 15q11
A chromosome condition caused by an extra, rearranged chromosome 15 that can affect muscle tone, development, speech, behavior, and seizures.
Understanding Duplication/inversion 15q11
Signs and severity vary, but common features include low muscle tone in newborns, developmental delay, mild to severe intellectual disability, delayed or absent speech, behavior differences, and seizures. Most cases happen by chance in people with no family history. Signs show up in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Delays in development
- Seizures
- Severe delays in speech and language
- Autistic behavior
- Feeding difficulties
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, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Dup15q Alliance and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Dup15q Alliance, Epilepsy Foundation
- 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 Dup15q Alliance 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
People with this condition have an extra chromosome made of two pieces of chromosome 15 stuck together end to end. Most cases happen by chance and are not inherited.
Also known as: duplication/inversion type 15q11; idic (15) syndrome; idic(15); inv dup (15) syndrome; inv dup(15); invdup(15)
Patient organizations
- Dup15q AllianceDuplication/inversion 15q11 · United States
- Organization for Autism ResearchDuplication/inversion 15q11 · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Duplication/inversion 15q11.
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