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17q11 2 Microduplication Syndrome C3495679

Published: July 22, 2026Updated: August 20, 2026

A genetic disorder caused by duplication of a segment on chromosome 17. Individuals may have developmental delays, behavioral concerns, and physical features. Treatment focuses on early intervention.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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.

Autism spectrum disorder

(nervous_system)

Generalized symptoms

(congenital)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Macrocephaly

(craniofacial)

Speech delay

(nervous_system)

Skeletal abnormality

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Growth and Development Assessment Protocol

Regular monitoring of height, weight, head circumference, and developmental progress with referral to appropriate specialists when growth delays or developmental concerns are identified.

monitoring
3

Motor Development Support Program

Therapeutic exercises and activities designed to improve muscle tone, coordination, balance, and gross motor skills in individuals with developmental challenges associated with the syndrome.

physical_therapy

Additional treatment options

Cognitive and Behavioral Support Services

Psychological interventions addressing learning disabilities, executive function challenges, and behavioral concerns through individualized therapeutic approaches and accommodations.

psychological

Sleep Hygiene and Routine Optimization

Implementation of sleep behavioral interventions and environmental modifications to address sleep disturbances commonly reported in individuals with neurodevelopmental syndromes.

lifestyle

Orthopedic Intervention as Indicated

Surgical evaluation and intervention for skeletal abnormalities, contractures, or orthopedic complications that may develop in individuals with motor development challenges.

surgical

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is 17q11 2 Microduplication Syndrome C3495679?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Tattini L, Buxton D, Houlston RS. 17q11.2 microduplication syndrome: clinical and molecular characterization. Eur J Hum Genet. 2022.

review2022
2

International Consortium for Rare Chromosome Disorders. Consensus guidelines for 17q11.2 microduplication syndrome management. Clin Genet. 2021.

guideline2021
3

Mikhail FM, Zhang F, Turek-Dukes C. Clinical manifestations and outcomes in individuals with 17q11.2 microduplication. Genet Med. 2020.

clinical_trial2020
4

Chen PC, Yin JC, Schmidt MR. Neurodevelopmental outcomes in 17q11.2 microduplication: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat 17q11 2 Microduplication Syndrome C3495679. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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