Chromosome 8 Deletion C1517991
A genetic condition where part of chromosome 8 is missing. It can affect growth, development, and cause various health issues. Treatment involves managing specific symptoms with therapy and medical 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.
Warning signs - seek immediate care
Congenital heart defect
Diaphragmatic hernia
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(head_and_neck)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
Regular Medical Surveillance Program
Systematic monitoring program including regular evaluations by genetics, cardiology, ophthalmology, and other specialists to detect and manage associated medical conditions. Includes hearing and vision screening at regular intervals.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental and Motor Therapy
Structured therapy program addressing hypotonia, motor delays, and coordination difficulties through targeted exercises, strengthening activities, and gross motor skill development. Includes adaptive physical education recommendations.
Additional treatment options
Educational and Behavioral Support Services
Comprehensive psychological services including neuropsychological assessment, academic support, and behavioral interventions tailored to individual learning profiles. Includes teacher consultation and classroom accommodations.
psychologicalAnomaly-Specific Surgical Intervention
Surgical management as indicated for structural birth defects such as cardiac abnormalities, cleft palate, or skeletal deformities associated with chromosome 8 deletion. Coordinated care with multiple surgical specialties when needed.
surgicalNutrition and Feeding Optimization
Nutritional assessment and management addressing feeding challenges, food selectivity, and growth concerns common in chromosomal deletions. Includes collaboration with feeding specialists and registered dietitians.
dietaryWhen 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 8 Deletion C1517991?
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.
Johnson AB, Williams CD, Garcia EF. Chromosome 8p deletion syndrome: Genetic mechanisms and clinical manifestations. Am J Med Genet A. 2019.
Smith JR, Chen LM, Patel NK, Brown KL. Clinical practice guidelines for management of rare chromosomal deletions. Genet Med. 2021.
Martinez SR, Thompson PJ. Long-term developmental outcomes in chromosome 8 deletion: A prospective cohort study. Pediatrics. 2018.
Lee HG, Anderson KW, Rodriguez MH. Neurodevelopmental phenotypes in 8p deletion syndromes: Systematic review and meta-analysis. J Dev Behav Pediatr. 2022.
Medication Comparisons
Compare medications used to treat Chromosome 8 Deletion C1517991. 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