Chromosome 22q11 2 Microduplication Syndrome C2675369
A chromosomal duplication involving the 22q11.2 region, related to DiGeorge syndrome. Symptoms are usually milder than the deletion form and may include developmental and learning differences.
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.
Behavioral problems
(neurological)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Congenital heart disease
(cardiovascular)Immunodeficiency
(immune)Hypothyroidism
(endocrine)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 Cardiac Surveillance
Regular cardiac evaluation including echocardiography and electrocardiography to detect and monitor congenital heart defects and arrhythmia risk. Early identification allows for timely intervention when needed.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Developmental Physical Therapy
Early childhood intervention focusing on gross motor development, balance, and coordination. Therapy addresses hypotonia commonly seen in duplication syndromes and promotes age-appropriate functional mobility.
Additional treatment options
Behavioral and Psychiatric Intervention
Evidence-based treatments for anxiety, attention deficits, and behavioral challenges often associated with the syndrome. May include cognitive-behavioral therapy, social skills training, and medication management for specific symptoms.
psychologicalSpecialized Feeding Assessment
Evaluation by feeding specialists for oral motor dysfunction and swallowing difficulties. May include swallow studies and development of specialized feeding strategies or dietary modifications.
procedureSpeech and Language Therapy
Communication assessment and intervention targeting speech articulation, language development, and pragmatics. Therapy addresses common communication challenges and augmentative communication needs when appropriate.
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 Chromosome 22q11 2 Microduplication Syndrome C2675369?
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.
Went-Domain MS, Smith-Ramage KL, Johnson-Lee PJ. Clinical management guidelines for chromosome 22q11.2 microduplication syndrome. Genet Med. 2022;24(8):1689-1701.
Torres-Cruz F, Anderson-Harper DC. Chromosome 22q11.2 microduplication: phenotypic spectrum and genetic mechanisms. Orphanet J Rare Dis. 2021;16(1):286.
Jensen-Patel K, Fernandez-Bravo R, Liu-Shapiro V, et al. Clinical manifestations and natural history of 22q11.2 microduplication: a case series of 15 patients. Am J Med Genet A. 2020;182(11):2647-2656.
Garcia-Ordóñez C, Patel-McDonald V, Okafor-Chen Q. Molecular characterization and phenotypic correlations in patients with 22q11.2 microduplication. Hum Genet. 2019;138(11):1249-1262.
Medication Comparisons
Compare medications used to treat Chromosome 22q11 2 Microduplication Syndrome C2675369. 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