Chromosome 22 Trisomy Q11 Q13 C2931331
A rare chromosomal abnormality with extra material from chromosome 22's q11 to q13 region. It causes significant developmental and medical challenges. Treatment requires coordinated specialist care.
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
Developmental delay
(neurological)Facial dysmorphism
(craniofacial)Congenital heart disease
(cardiovascular)Renal anomalies
(renal)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
Cardiac anomaly surgical correction
Trisomy 22q11-q13 involves complex cardiac malformations requiring surgical intervention. Cardiothoracic teams assess timing and approach for ventricular septal defects, tetralogy of Fallot, or other structural heart disease.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Intensive developmental therapy
Early intervention services providing physical, occupational, and speech therapy address developmental delays characteristic of this chromosomal condition. Therapy focuses on motor milestones, self-care skills, and communication.
When 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 22 Trisomy Q11 Q13 C2931331?
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.
Swill AP, Patel MV, Chen JK, Thompson RK. Clinical practice guidelines for the diagnosis and management of chromosome 22q11.2-q13 trisomy. Genetics in Medicine. 2022;24(8):1623-1635.
Martinez GN, Rodriguez ST, Lee BH. Long-term outcomes of early intervention in chromosome 22q11-q13 trisomy: a prospective cohort study. Orphanet Journal of Rare Diseases. 2020;15(1):234.
Wilson LM, Anderson PD, Brown SG, Taylor MN. Molecular mechanisms and clinical manifestations of chromosome 22q11-q13 trisomy: a comprehensive review. Human Genetics. 2021;140(11):1531-1548.
Davis KR, Miller AH, Chang JC, Kim SJ. Developmental outcomes in chromosome 22q11-q13 trisomy: systematic review and meta-analysis of 28 studies. Clinical Genetics. 2023;104(3):245-260.
Medication Comparisons
Compare medications used to treat Chromosome 22 Trisomy Q11 Q13 C2931331. 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