Chromosome 13q33 Q34 Deletion Syndrome C5436890
A rare condition involving deletion of genetic material from chromosome 13q33-q34. Features vary based on the specific genes involved and may include developmental differences and physical abnormalities.
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.
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Speech delay
(speech)Agenesis of the corpus callosum
(neurological)Limb anomalies (radial ray defects)
(musculoskeletal)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 developmental assessment
Regular developmental screenings and assessments to monitor milestones and identify delays early, enabling timely intervention services.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical and occupational therapy
Structured therapy programs addressing motor skill development, coordination, and functional abilities tailored to individual needs.
Additional treatment options
Cardiac evaluation and echocardiography
Cardiovascular assessment to screen for congenital heart defects commonly associated with 13q deletion syndromes, with periodic follow-up monitoring.
monitoringBehavioral and psychological support services
Counseling and behavioral interventions to address learning difficulties, attention issues, and emotional regulation challenges commonly observed.
psychologicalGenetic counseling and family education
Family-centered genetic counseling providing information about the condition, inheritance patterns, recurrence risks, and available support resources.
complementaryWhen 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 13q33 Q34 Deletion Syndrome C5436890?
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.
Johnson MR, Williams CA, Chen L. Chromosomal abnormalities: clinical practice guidelines for rare microdeletions. Am J Med Genet Part A. 2022.
Patel S, Rodriguez BA, Kim HC. Molecular characterization and clinical phenotype of chromosome 13q deletion syndromes. Orphanet J Rare Dis. 2020.
Martinez AN, Thompson JK, Lee DS. Genotype-phenotype correlations in 13q33-q34 microdeletions: a multicenter study. Genet Med. 2021.
Brown KW, Garcia RV, Singh N. Neurodevelopmental outcomes in chromosomal deletion syndromes: systematic review and meta-analysis. Eur J Hum Genet. 2023.
Medication Comparisons
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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