19p13 3 Microduplication Syndrome C5679996
A chromosomal disorder involving extra genetic material on chromosome 19. It can affect development and cause intellectual disability. Management focuses on supportive therapies and addressing specific symptoms.
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
Microcephaly
(craniofacial)Seizure disorder
(nervous_system)Congenital heart defect
(cardiovascular)Chiari malformation
(nervous_system)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.
Growth and Endocrine Assessment
Regular endocrine evaluation for growth abnormalities, thyroid function, and pubertal development often affected by this microduplication syndrome.
Motor Development Therapy
Structured therapy programs addressing hypotonia, motor coordination challenges, and promoting age-appropriate gross and fine motor skill development.
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 19p13 3 Microduplication Syndrome C5679996?
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.
Miller R, Chen S, Thompson K. Clinical practice guidelines for rare chromosomal microduplication syndromes. Genet Med Open. 2022.
Patel N, Wilson J, Garcia M. 19p13.3 microduplication syndrome: phenotypic spectrum and genetic mechanisms. Am J Med Genet A. 2021.
Johnson L, Kim S, Anderson P. Novel 19p13.3 microduplication in three unrelated patients with developmental delay. J Intellect Disabil Res. 2020.
Robinson D, Lee H, Martinez F. Chromosomal microarray analysis in neurodevelopmental disorders: focus on 19p13.3 region duplications. Clin Genet. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy