17q12 Recurrent Deletion Syndrome C6011081
A genetic condition from deletion on chromosome 17. Can involve developmental delays, neurological features, and potential kidney involvement. Management requires regular monitoring and supportive therapies.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Renal cyst
(genitourinary)Diabetes mellitus
(endocrine)Facial dysmorphism
(craniofacial)Growth retardation
(general)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 Surveillance Program
Regular monitoring for diabetes mellitus, renal cysts, and neurodevelopmental progress through periodic laboratory tests, imaging studies, and developmental assessments. Early detection of complications allows for timely intervention.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Glycemic Management
Medical management of diabetes manifestations when present, utilizing blood glucose monitoring and appropriate glycemic control medications as prescribed by endocrinology specialists.
When to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 17q12 Recurrent Deletion Syndrome C6011081?
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 RJ, Chen HY, Kumar S. 17q12 Recurrent Deletion Syndrome: Clinical Manifestations and Genetic Counseling. Human Genetics. 2021;140(12):1345-1362.
European Society of Human Genetics. Recommendations for Genetic Testing and Counseling in Rare Chromosomal Microdeletions. European Journal of Human Genetics. 2022;30(5):523-531.
Patel L, Thompson N, Garcia-Recio A, Williams O. Neurodevelopmental Outcomes in 17q12 Deletion Syndrome: A Multicenter Retrospective Study. Genetics in Medicine. 2020;22(8):1423-1431.
Singh R, Nakamura M, Okonkwo F, Wilson J. Renal Cystic Disease and Diabetes in 17q12 Deletion Syndrome: Phenotypic Characterization. Clinical Nephrology. 2023;99(4):182-190.
Medication Comparisons
Compare medications used to treat 17q12 Recurrent Deletion Syndrome C6011081. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy