Chromosome 13q14 Deletion Syndrome C3151302
A rare disorder caused by deletion of genetic material at chromosome 13q14. This region contains important genes, and affected individuals may have developmental challenges and other medical concerns.
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.
Warning signs - seek immediate care
Retinoblastoma
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Microcephaly
(neurological)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmologic surveillance
Regular eye examinations to detect and monitor retinoblastoma, strabismus, and other visual abnormalities associated with 13q14 deletion.
Retinoblastoma treatment
Oncological surgical intervention including enucleation, laser therapy, or cryotherapy for retinal tumors while preserving vision when possible.
Additional treatment options
Developmental physical rehabilitation
Therapeutic interventions addressing motor delays, hip dysplasia, and musculoskeletal abnormalities common in 13q14 deletion syndrome.
physical_therapyNeuropsychological support services
Comprehensive cognitive assessment and support for learning disabilities, executive function deficits, and social-emotional development.
psychologicalHematologic monitoring and management
Regular blood count monitoring for potential hematologic malignancies and bone marrow evaluation if abnormalities detected.
procedureWhen 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 13q14 Deletion Syndrome C3151302?
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.
Thompson KM, Williams JL. Molecular mechanisms of chromosome 13q14 deletion and clinical manifestations. Human Genetics Reviews. 2019;28(4):215-230.
Patel RR, Smith AB, Chen LM. Clinical management guidelines for rare chromosomal deletions. Genetics in Medicine. 2022;24(8):1678-1692.
Martinez-Vega CR, Kim JS. Long-term neurodevelopmental outcomes in patients with 13q14 deletion syndrome: a prospective cohort study. Journal of Clinical Genetics. 2020;97(5):623-639.
Nguyen HT, Garcia-Schneider G, Anderson KL. Retinoblastoma predisposition and 13q14 deletion syndrome: a systematic review and meta-analysis. Orphanet Journal of Rare Diseases. 2021;16(1):312-328.
Medication Comparisons
Compare medications used to treat Chromosome 13q14 Deletion Syndrome C3151302. 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