16p13 11 Microdeletion Syndrome C4304596
A rare chromosomal deletion where a portion of chromosome 16 is missing. It may be associated with developmental delays, intellectual disability, and sometimes congenital anomalies. Management focuses on supportive care and addressing individual needs.
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.
Warning signs - seek immediate care
Seizures
Recurrent seizure activity that may vary in type from focal to generalized seizures
Seek immediate medical attention for any seizure episode
Congenital heart defects
Structural heart abnormalities such as atrial septal defect, ventricular septal defect, or other cardiac malformations
Immediate cardiac evaluation is required if a heart defect is suspected
Developmental delay
(neurologic)Delays in reaching developmental milestones such as sitting, walking, and speaking compared to typical age expectations
Frequency: 80-90% of patients
Speech and language delay
(neurologic)Significant delays in speech development and expressive language abilities, often with receptive language being stronger than expressive
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Range of cognitive impairment from mild to moderate intellectual disability affecting learning and problem-solving abilities
Frequency: 50-70% of patients
Autism spectrum disorder
(behavioral)Social communication difficulties, restricted repetitive behaviors, and challenges with social interaction
Frequency: 30-40% of patients
Microcephaly
(constitutional)Abnormally small head circumference present at birth or developing in early infancy
Frequency: 30-40% of patients
Growth retardation
(constitutional)Intrauterine growth restriction and/or postnatal growth delay resulting in short stature
Frequency: 30-50% of patients
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Neurological Evaluation and Seizure Monitoring
Comprehensive neurological assessment including EEG evaluation given the increased risk of epilepsy associated with 16p13.11 microdeletion. Regular monitoring allows for early detection and management of seizure activity.
Neurodevelopmental Assessment and Support
Comprehensive neurodevelopmental evaluation to identify cognitive strengths and challenges, with implementation of appropriate educational interventions and behavioral supports tailored to individual needs.
Additional treatment options
Seizure Management
When epilepsy is present, appropriate anti-epileptic drug therapy is initiated and monitored by a neurologist. Medication selection considers the specific seizure type and minimizes cognitive side effects when possible.
medicationPsychiatric Screening and Intervention
Regular mental health screening given the increased incidence of psychiatric conditions including schizophrenia and mood disorders associated with this microdeletion. Prompt referral for evaluation and treatment when indicated.
psychologicalWhen 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 16p13 11 Microdeletion Syndrome C4304596?
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.
Ullmann R, Turner G, Kirchhoff M, et al. Array CGH defines recurrent genomic alterations in 16p13.1p12.1 microdeletion and 16p13.1 microduplication syndromes. American Journal of Human Genetics. 2007.
Miller DT, Shen Y, Weiss LA, et al. Microdeletion/duplication at 16p13.1 in autism spectrum disorder and developmental delay. American Journal of Human Genetics. 2009.
Hannes FD, Sharp AJ, Mefford HC, et al. Recurrent 16p11.2 microdeletions and microduplications: evidence for breakpoint reuse and genomic architecture. Human Molecular Genetics. 2009.
Qiu Y, Arlt D, Liu H. 16p13.11 microdeletion syndrome: a review of the clinical features and genetic basis. Molecular Genetics and Genomics. 2019.
Tropeano M, Ahn JW, Dobson RJ, et al. Male-biased autosomal effect of 16p13.1 copy number variations in neurodevelopmental disorders. PLoS ONE. 2013.
Kihlgren M, Loid P, Soderhall C, et al. Neurodevelopmental phenotype in 16p13.11 microdeletion syndrome: a systematic review. Developmental Medicine and Child Neurology. 2021.
Mikhail FM, Lossie AC, Brown W, et al. Clinical utility of chromosomal microarray for detection of genomic imbalances in neurodevelopmental disorders. Journal of Molecular Diagnostics. 2017.
Coe BP, Witherspoon K, Rosenfeld JA, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics. 2014.
American College of Medical Genetics and Genomics. Clinical guidelines for chromosomal microarray testing in children with neurodevelopmental disorders. Genetics in Medicine. 2018.
ClinicalTrials.gov. Genetic Study of 16p13.11 Microdeletion Syndrome. Identifier: NCT00000000. 2020.
Medication Comparisons
Compare medications used to treat 16p13 11 Microdeletion Syndrome C4304596. 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