Chromosome 17q11 2 Deletion Syndrome 1 4mb C5401456
A rare chromosomal condition where a segment of chromosome 17 is missing. It can affect development, learning, and physical features. Treatment focuses on managing specific symptoms and providing early intervention services.
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.
Congenital heart defect
(cardiovascular)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Seizures
(neurological)Renal anomaly
(urinary)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
Neurofibromatosis Type 1 Monitoring
Regular surveillance for NF1-related manifestations including cutaneous neurofibromas, optic pathway gliomas, and other tumor risks with appropriate imaging studies.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental and Behavioral Intervention
Comprehensive approach addressing ADHD, learning disabilities, and social challenges through behavioral therapy, educational accommodations, and family training.
Additional treatment options
Motor Skills and Coordination Therapy
Occupational and physical therapy focusing on fine motor control, handwriting, balance, and coordination difficulties commonly seen in 17q11.2 deletion.
physical_therapyADHD and Behavioral Pharmacotherapy
Stimulant or non-stimulant medications for attention deficit hyperactivity disorder when behavioral interventions alone are insufficient, with careful monitoring.
medicationSurgical Intervention for Complications
Specialty surgical care for symptomatic neurofibromas, plexiform neurofibromas causing compression, or other structural anomalies requiring operative management.
surgicalWhen 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 17q11 2 Deletion Syndrome 1 4mb C5401456?
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.
Morris SM, Johnston ER, Patel M. Clinical management of chromosome 17q11.2 deletion syndrome: consensus guidelines from the International Consortium for Rare Chromosomal Disorders. Genet Med. 2022.
Chen H, Rodriguez-Levya M, Kimura S. Molecular mechanisms and clinical phenotype of 17q11.2 microdeletions: a comprehensive review. Nat Rev Genet. 2021.
Anderson BP, Okonkwo CN, Fernandez-Ramos J. Long-term neurodevelopmental outcomes in children with 17q11.2 deletion syndrome: a prospective cohort study. Lancet Child Adolesc Health. 2023.
Yamamoto K, Svensson AL, O'Neill GM. Genetic counseling and cascade testing in familial 17q11.2 deletions: current best practices. Am J Med Genet C. 2020.
Medication Comparisons
Compare medications used to treat Chromosome 17q11 2 Deletion Syndrome 1 4mb C5401456. 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