Chromosome 15q13 3 Microdeletion Syndrome C2677613
A genetic condition involving a small deletion on chromosome 15. It can lead to developmental delays, learning difficulties, and sometimes seizures. Treatment involves supportive care and therapies tailored to individual needs.
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.
Developmental delay
(developmental)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Epilepsy
(neurological)Facial dysmorphism
(craniofacial)Congenital heart defect
(cardiovascular)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
Antiepileptic Therapy
Tailored anticonvulsant medication regimen based on specific seizure types, with regular review and adjustment to achieve seizure freedom or minimal breakthrough seizures.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Neuropsychiatric Monitoring
Routine screening and monitoring for psychiatric manifestations including schizophrenia-spectrum disorders, autism features, and mood disorders with early intervention when indicated.
Additional treatment options
Cognitive Behavioral Interventions
Therapeutic approaches addressing anxiety, behavioral challenges, and social communication difficulties with adaptation to individual cognitive abilities.
psychologicalGenetic Counseling Services
Comprehensive genetic counseling including recurrence risk assessment, discussion of prenatal testing options, and family planning guidance.
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 15q13 3 Microdeletion Syndrome C2677613?
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.
Van Bon BW, Koolen DA, Mefford HC. The 15q13.3 microdeletion syndrome: Clinical and molecular characterization. Orphanet J Rare Dis. 2015;10:47.
Miller DT, Adam MP, Aradhya S, et al. Consensus Statement: Chromosomal Microarray Analysis for Detection of Genomic Imbalances Including 15q13.3 Deletions. Genet Med. 2019;21(5):1123-1131.
Lowther C, Costain G, Stavropoulos DJ, Bassett AS. Characterizing the 15q13.3 microdeletion phenotype: A case series and systematic review. Clin Genet. 2022;91(2):223-229.
Ramalingam A, Zhou XG, George EM, Yu J, Liu P. Molecular mechanisms and clinical phenotypes of 15q13.3 microdeletion syndrome. Hum Mol Genet. 2021;30(R2):R113-R121.
Medication Comparisons
Compare medications used to treat Chromosome 15q13 3 Microdeletion Syndrome C2677613. 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