Distal Monosomy 17q C4275171
A chromosomal condition where the end of chromosome 17 is missing, associated with developmental delays, intellectual disability, and facial abnormalities. Supportive interventions are used.
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
Severe scoliosis
Facial dysmorphism
(developmental)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(musculoskeletal)Cleft palate
(orofacial)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
Comprehensive Genetic Counseling and Monitoring
Regular multidisciplinary monitoring including cardiology, neurology, and developmental assessments to detect and manage associated complications such as congenital heart defects and developmental delays typical of distal 17q deletions.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Intensive early childhood physical therapy to address hypotonia, motor delays, and improve muscle tone and coordination affected by the chromosomal deletion.
Additional treatment options
Developmental and Behavioral Support Services
Individualized educational and behavioral interventions to address intellectual disability, learning challenges, and social-emotional development needs.
psychologicalSurgical Correction of Structural Anomalies
Surgical intervention when necessary for congenital heart defects, cleft palate, or other structural abnormalities identified through diagnostic imaging.
surgicalOccupational Therapy Services
Occupational therapy focusing on fine motor skills, activities of daily living, and sensory integration to maximize functional independence.
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 Distal Monosomy 17q C4275171?
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 17q C4275171. 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