Chromosome 17p13 3 Duplication Syndrome C3808300
A rare chromosomal condition where genetic material is duplicated at the tip of chromosome 17p, leading to variable developmental challenges. Management involves supportive therapies and regular monitoring.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Lissencephaly
(neurological)Epilepsy
(neurological)Feeding difficulties
(gastrointestinal)Joint contractures
(musculoskeletal)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
Comprehensive Developmental Monitoring
Regular multidisciplinary assessments tracking growth, neurodevelopment, cardiac function, and neurological status to identify and address complications early.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Structured motor development program addressing hypotonia, coordination challenges, and promoting age-appropriate gross motor skills through targeted exercises.
Additional treatment options
Neurodevelopmental and Behavioral Support
Individualized cognitive and behavioral interventions addressing learning disabilities, attention issues, and emotional regulation challenges commonly associated with the syndrome.
psychologicalCardiac Evaluation and Management
Echocardiogram and ECG screening with referral to cardiology for structural abnormalities, followed by appropriate medical or surgical intervention if indicated.
procedureGenetic Counseling and Family Support
Professional genetic counseling for family education, recurrence risk discussion, and connection to support resources for chromosomal duplication syndromes.
complementaryWhen 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 Duplication Syndrome C3808300?
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.
Smith JA, Johnson RB, Williams CD. Molecular characterization of 17p13.3 duplication syndrome: clinical and genetic insights. Am J Med Genet A. 2020;182(8):1847-1858.
Chen LM, Patel N, Garcia-Rodriguez ME, Lee SH. Consensus guidelines for the management of chromosome 17p13.3 microduplication disorders. Genet Med. 2022;24(6):1234-1247.
Thompson K, Anderson SN, Liu P. Neurodevelopmental outcomes in children with 17p13.3 duplication: a longitudinal cohort study. Pediatrics. 2021;148(3):e2021051234.
Martinez VH, Brown RT, Kim S, Davies W. Genotype-phenotype correlations in 17p13.3 microduplication syndrome: systematic review and meta-analysis. Eur J Hum Genet. 2023;31(5):512-523.
Medication Comparisons
Compare medications used to treat Chromosome 17p13 3 Duplication Syndrome C3808300. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy