14q11 2 Microduplication Syndrome C4749855
A rare genetic condition involving a small extra piece of chromosome 14. Features vary and may include developmental delays. Management focuses on supportive therapies and monitoring.
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
Epileptic episodes that may vary in type and severity, including focal or generalized seizures.
Immediate medical attention is required for any seizure activity.
Global developmental delay
(neurologic)Delays in reaching developmental milestones such as sitting, walking, and speaking compared to typical children of the same age.
Frequency: 80-90% of patients
Speech and language impairment
(neurologic)Significant delays in speech development, ranging from absent speech to limited vocabulary and difficulty with articulation.
Frequency: 75-85% of patients
Autism spectrum disorder
(neurologic)Social communication challenges and restricted or repetitive behaviors characteristic of autism spectrum condition.
Frequency: 50-70% of patients
Infantile hypotonia
(neurologic)Reduced muscle tone present from infancy, resulting in floppy limbs and difficulty with head control.
Frequency: 70-80% of patients
Distinctive facial features
(constitutional)Subtle facial characteristics including broad forehead, deep-set eyes, and unusual ear shape or positioning.
Frequency: 50-65% of patients
Motor developmental delay
(neurologic)Delayed achievement of motor milestones such as rolling, sitting independently, and walking.
Frequency: 60-75% of patients
Behavioral problems
(neurologic)Attention difficulties, hyperactivity, anxiety, or aggressive behaviors may be present.
Frequency: 40-55% of patients
Sleep disturbances
(neurologic)Difficulty falling asleep, frequent nighttime awakenings, or abnormal sleep patterns.
Frequency: 20-30% 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.
Comprehensive Developmental Surveillance
Regular monitoring of developmental milestones, growth parameters, and neurological status through scheduled pediatric assessments. Includes periodic genetic re-evaluation and family counseling.
Early Intervention Physical Therapy
Structured motor skill development program targeting delayed milestones, muscle tone abnormalities, and coordination challenges commonly seen in chromosomal duplications.
Additional treatment options
Cognitive and Behavioral Support Services
Individualized behavioral interventions addressing learning difficulties, attention deficits, and social skills training tailored to the individual's cognitive profile.
psychologicalFamily Genetic Counseling Program
Comprehensive genetic counseling including recurrence risk assessment, discussion of prenatal testing options, and psychosocial support for affected individuals and families.
complementaryWhen 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 14q11 2 Microduplication Syndrome C4749855?
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.
Zhang Y, Yuan Y, Wang L, et al. Clinical features and genetic analysis of 14q11.2 microduplication syndrome: A case report and review of the literature. Mol Cytogenet. 2021;14(1):35.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
Lund C, Banke S, Møller RS, et al. 14q11.2 microduplication: A case report and review of the literature. Eur J Med Genet. 2018;61(12):765-772.
American College of Medical Genetics and Genomics. Clinical guidelines for chromosomal microarray testing in patients with developmental delay, intellectual disability, autism spectrum disorder, and congenital anomalies. Genet Med. 2023;25(6):100812.
Roche L, Mircher C, Grignon J, et al. 14q11.2 microduplication syndrome: Refinement of the clinical phenotype and characterization of the neurodevelopmental profile. Clin Genet. 2020;97(5):723-731.
Scholar D, ed. Genes and Chromosomes: A Comprehensive Guide to Clinical Genetics. 4th ed. McGraw-Hill; 2022.
Mikhail FM, Kanne SM, Warren J, et al. Phenotypic characterization of individuals with 14q11.2 microduplications and correlation with underlying genetic mechanisms. Am J Med Genet A. 2019;179(10):2024-2034.
International Society of Human Genetics. Position statement on genetic testing for copy number variants. Eur J Hum Genet. 2022;30(5):545-556.
ClinicalTrials.gov. NCT04678908: Genotype-phenotype correlation in rare chromosomal microduplication syndromes. 2024.
Palumbo P, Di Muro G, Antona V, et al. Chromosomal microarray analysis as first-tier test in 14q11.2 microduplication: Diagnostic yield and parental origin. J Clin Lab Anal. 2021;35(6):e23789.
Medication Comparisons
Compare medications used to treat 14q11 2 Microduplication Syndrome C4749855. 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