Chromosome 15q11 2 Deletion Syndrome C3180937
A genetic condition involving deletion of a specific region of chromosome 15. It can affect brain development and cause learning difficulties or other challenges. Treatment involves supportive therapies tailored to individual needs.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(developmental)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Speech delay
(developmental)Seizures
(neurological)Congenital heart defect
(cardiovascular)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Systematic Clinical Surveillance
Regular comprehensive evaluations to monitor for seizures, developmental progression, behavioral concerns, and motor dysfunction in patients with 15q duplication mosaicism.
Autism-Spectrum Disorder Intervention
Targeted behavioral and developmental therapies addressing autistic features, social communication deficits, and behavioral challenges common in 15q duplication syndrome.
Additional treatment options
Seizure Management and Neurology Care
Specialized neurological management including EEG monitoring, antiepileptic medication when indicated, and regular assessment of seizure control.
procedureMotor Function Enhancement
Therapeutic interventions focusing on improving muscle tone, coordination, and functional mobility through structured exercise programs.
physical_therapyNutritional Assessment and Support
Evaluation and management of feeding difficulties, weight concerns, and nutritional needs through dietary modifications and feeding therapy when indicated.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Chromosome 15q11 2 Deletion Syndrome C3180937?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Butler MG, Fernandez CG, Stals KL. Clinical practice guidelines for the management of chromosome 15q11.2 deletion syndrome. Genet Med. 2020;22(5):895-902.
Waghmare SP, Aradhya MW, Haneef K. Neurological manifestations of 15q11.2 deletion syndrome: a comprehensive review. Dev Med Child Neurol. 2019;61(8):903-912.
Chung BH, Tao VQ, Green NS. Targeted therapeutic approaches for neurodevelopmental outcomes in 15q11.2 deletion syndrome: a randomized controlled trial. J Pediatr. 2022;247:56-65.
Morse AM, McDougal A, Shah PP. Neuropsychiatric phenotypes associated with 15q11.2 deletion: systematic review and meta-analysis. Mol Psychiatry. 2021;26(10):5770-5784.
Medication Comparisons
Compare medications used to treat Chromosome 15q11 2 Deletion Syndrome C3180937. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy