Distal Monosomy 20q C5190838
A rare genetic condition from missing genetic material at the end of chromosome 20. It typically causes birth defects and developmental delays. Care involves addressing individual symptoms with specialist support.
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
Respiratory distress
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Skeletal anomalies
(musculoskeletal)Visual impairment
(visual)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
Hematologic and Oncologic Surveillance
Regular blood count monitoring and surveillance for hematologic malignancies since distal 20q deletions have been associated with myeloid neoplasms and hematologic abnormalities.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Rehabilitative Physical Medicine
Comprehensive physical and occupational therapy addressing motor delays, coordination difficulties, and maximizing functional independence and mobility.
Additional treatment options
Management of Associated Medical Conditions
Pharmacological treatment for seizures, infections, or other medical complications that may arise from the chromosomal deletion syndrome.
medicationOrthopedic Intervention When Indicated
Surgical evaluation and intervention for skeletal abnormalities such as scoliosis, limb malformations, or joint deformities associated with the deletion.
surgicalNeuropsychological Support Services
Ongoing psychological assessment, counseling, and behavioral interventions to support emotional well-being and address cognitive challenges.
psychologicalWhen 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 Distal Monosomy 20q C5190838?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Distal Monosomy 20q C5190838. 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