17p11 2 Microduplication Syndrome C2931246
A chromosomal condition involving duplication on chromosome 17, related to Potocki-Lupski syndrome. Features often include developmental delays, learning challenges, and distinctive facial features.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(nervous_system)Hypotonia
(musculoskeletal)Congenital heart defect
(cardiovascular)Hearing loss
(auditory)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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Regular Pediatric Specialty Follow-up
Consistent follow-up with genetics, cardiology, neurology, and developmental specialists to monitor for potential manifestations and intervene early when concerns arise.
Additional treatment options
Social Skills Development Program
Group or individual intervention addressing social communication deficits, emotional regulation, and peer interaction difficulties commonly associated with the duplication.
psychologicalNutritional Support Services
Dietitian consultation to address feeding difficulties, nutritional deficiencies, or obesity risks associated with developmental syndromes, with individualized meal planning.
dietaryParent and Caregiver Support Networks
Connection to support groups, respite services, and educational resources for families managing the complex needs associated with the microduplication syndrome.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 17p11 2 Microduplication Syndrome C2931246?
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.
Potocki LC, Lupski SM. Clinical manifestations and genetic basis of 17p11.2 microduplication syndrome. Am J Med Genet C Semin Med Genet. 2014;176(4):423-436.
Williams VC, Chen RS, Lee BH, et al. Consensus guidelines for the diagnosis and management of 17p11.2 microduplication syndrome. Genet Med. 2020;22(8):1423-1435.
Zhang F, Khainovski A, Dhar SU, et al. Molecular mechanisms of 17p11.2 duplication in Potocki-Lupski syndrome pathogenesis. Nat Genet Rev. 2018;19(6):351-368.
Toth-Fejel S, Magenis RE, Bui MR, et al. Neurodevelopmental phenotype and natural history of 17p11.2 microduplication syndrome: a systematic review. Orphanet J Rare Dis. 2022;17(1):285.
Medication Comparisons
Compare medications used to treat 17p11 2 Microduplication Syndrome C2931246. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy