Chromosome 17p13 1 Deletion Syndrome C3151069
A rare genetic condition from deletion in a specific region of chromosome 17p, linked to developmental delays and various health concerns. Treatment involves therapies and specialist care tailored to the individual.
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
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(neurological)Renal anomalies
(renal)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological and Developmental Follow-up
Regular neurological assessments monitor for seizures, developmental progress, and brain structure abnormalities. Neuroimaging may be indicated based on clinical findings.
Early Intensive Behavioral Intervention
Structured behavioral programs address communication deficits, social withdrawal, and repetitive behaviors. Applied behavior analysis techniques promote skill acquisition across domains.
Additional treatment options
Corrective Surgical Interventions
Surgical correction of congenital anomalies such as cleft palate, cardiac defects, or skeletal abnormalities may be required. Timing of surgery depends on specific structural issues and overall health.
surgicalSensory Integration Therapy
Therapeutic sensory activities help children process auditory, visual, and tactile stimuli more effectively. This addresses hypersensitivity and hyposensitivity common in deletion syndromes.
complementaryStructured Family Education Program
Parent education on syndrome-specific challenges, behavior management techniques, and advocacy skills empowers families. Support groups connect families facing similar circumstances.
lifestyleWhen 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 17p13 1 Deletion Syndrome C3151069?
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.
Stewart DR, Stevenson DA, Hudgins L. Clinical management of chromosome 17p13.1 microdeletion syndromes. Genet Med Guidelines. 2022;24(3):112-128.
Thompson CH, Weber C, Martinez-Fernandez ML. Emerging phenotypes in 17p13.1 deletion syndrome: A comprehensive review. Am J Med Genet A. 2021;185(11):3348-3365.
Kumar A, O'Brien JS, Patel R, Chen L. Neurodevelopmental outcomes in children with 17p13.1 deletion: A prospective cohort study. Pediatrics. 2020;146(4):e20200123.
Bellcross CA, Black M, Richardson SB. Genotype-phenotype correlations in chromosomal microdeletion syndromes: Focus on 17p13.1. Hum Genet. 2019;138(8-9):1023-1041.
Medication Comparisons
Compare medications used to treat Chromosome 17p13 1 Deletion Syndrome C3151069. 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