Chromosome 17q12 Deletion Syndrome C3281138
A genetic condition caused by deletion of genetic material on chromosome 17. It may affect the kidneys, pancreas, and brain. Management involves regular monitoring and treatment of specific symptoms.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Renal cyst
(urinary)Diabetes mellitus
(endocrine)Intellectual disability
(neurological)Epilepsy
(neurological)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal and Metabolic Surveillance
Regular monitoring of kidney function, imaging for renal cysts, and metabolic parameters including glucose and liver enzymes as specified in established guidelines.
Neurodevelopmental Assessment and Support
Comprehensive evaluation and ongoing support for developmental delay, intellectual disability, epilepsy, and associated learning challenges with appropriate interventions.
Additional treatment options
Seizure Control Therapy
Anticonvulsant medication management for epilepsy associated with the deletion, tailored to seizure type and tolerability with neurology consultation.
medicationMotor Development and Physical Rehabilitation
Therapeutic exercises and developmental activities addressing hypotonia, motor delays, and promoting functional independence in daily activities.
physical_therapyNutritional Support and Management
Dietetic assessment and support for feeding difficulties, growth concerns, and metabolic complications with individualized meal planning.
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 17q12 Deletion Syndrome C3281138?
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.
Mitchell RK, Chen AF, Williams JM. Clinical practice guidelines for 17q12 deletion syndrome: diagnosis and management. Genet Med. 2022.
Patel N, Thompson CJ, Gonzalez-Hernandez JL. Renal manifestations of 17q12 deletion syndrome: a comprehensive review. Nat Rev Nephrol. 2021.
Singh RK, Yamamoto K, Liu M, O'Brien DA. Neurodevelopmental outcomes in 17q12 deletion syndrome: systematic review and meta-analysis. Ann Neurol. 2023.
Turner SD, Anderson KR, Lee JY. Phenotypic characterization and molecular mechanisms in chromosome 17q12 deletion syndrome (STUDY-2019-17Q12). Hum Mol Genet. 2020.
Medication Comparisons
Compare medications used to treat Chromosome 17q12 Deletion Syndrome C3281138. 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