Chromosome 17p13 3 Telomeric Duplication Syndrome C2675492
A rare genetic disorder from duplication at the end of chromosome 17p, causing developmental and medical challenges that vary by case. Care focuses on individualized symptom management and therapies.
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.
Warning signs - seek immediate care
Congenital heart defect
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Autism spectrum disorder
(neurological)Epilepsy
(neurological)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Surveillance Protocol
Systematic monitoring for growth restriction, facial dysmorphism complications, and associated anomalies including brain malformations and seizures.
Developmental Physical Therapy
Therapeutic interventions targeting motor delays, muscle tone abnormalities, and promoting functional mobility appropriate to the child's capabilities.
Additional treatment options
Cognitive and Learning Support Services
Specialized educational interventions addressing intellectual disability, learning challenges, and providing appropriate academic accommodations.
psychologicalSeizure Management
Antiepileptic medication therapy when seizures are present, selected based on seizure type and individual patient factors with regular neurological follow-up.
medicationFamily Education and Support Program
Comprehensive family education on syndrome characteristics, prognosis, and practical caregiving strategies with connection to parent support networks.
lifestyleWhen 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 17p13 3 Telomeric Duplication Syndrome C2675492?
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.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010.
Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011.
Wertheim B, Roos E, van Bokhoven H. Clinical and molecular characterization of patients with 17p13.3 microduplications. Mol Syndromol. 2015.
Shaw-Smith C, Redon R, Rickman L, et al. Microarray-based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004.
Medication Comparisons
Compare medications used to treat Chromosome 17p13 3 Telomeric Duplication Syndrome C2675492. 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