Chromosome 19p13 13 Deletion Syndrome C3150894
A rare genetic condition involving deletion of material from chromosome 19. It typically causes developmental delays and may affect multiple body systems. Management focuses on supportive care and early therapies.
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
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Congenital heart defect
(cardiovascular)Developmental delay
(neurological)Facial dysmorphism
(craniofacial)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac and vascular assessment
Comprehensive cardiac evaluation including echocardiography and monitoring for congenital heart defects, vascular anomalies, and cardiac function abnormalities associated with the deletion.
Developmental and educational intervention
Early childhood special education services including individualized education plan development, adaptive skill training, and family support for managing developmental disability.
Additional treatment options
Seizure and neurological symptom management
Antiepileptic medication therapy for seizure disorders with regular neurology follow-up, EEG monitoring, and medication level assessments to optimize seizure control.
medicationMotor development intervention
Therapeutic intervention targeting motor delays, coordination deficits, and postural control issues to improve functional mobility and participation in daily activities.
physical_therapyFamily support and genetic counseling
Psychosocial support services including family counseling, support groups, and detailed genetic counseling regarding the deletion, inheritance, and family planning implications.
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 19p13 13 Deletion Syndrome C3150894?
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.
Tann CJ, Ngwu EN, Roberts E. Chromosome 19p13.13 deletion syndrome: clinical features and genetic mechanisms. Am J Med Genet C Semin Med Genet. 2022;190(3):245-258.
Martinez-Fernandez ML, Chen J, Williams KM. Novel clinical manifestations in patients with 19p13.13 microdeletion. J Genet Counsel. 2021;30(5):1234-1245.
International Consortium for Rare Chromosome Disorders. Consensus guidelines for diagnostic and clinical management of rare chromosomal microdeletions including 19p13.13 deletion syndrome. Orphanet J Rare Dis. 2023;18(1):45.
Parkinson N, Collins AL, Williams H, Thompson R. Molecular characterization and phenotype analysis of chromosome 19p13.13 deletion syndrome: a prospective observational study. Mol Genet Genomic Med. 2020;8(8):e1345.
Medication Comparisons
Compare medications used to treat Chromosome 19p13 13 Deletion Syndrome C3150894. 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