Partial Deletion Of Chromosome 6 C5679654
A genetic condition involving deletion of a section of chromosome 6, present from birth. It may affect multiple body systems and development with varying severity. Care involves multiple specialists addressing specific complications.
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
Congenital heart defect
(cardiovascular)Hearing loss
(auditory)Skeletal abnormalities
(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
Multidisciplinary Specialist Surveillance
Coordinated care involving genetics, endocrinology, neurology, and developmental pediatrics for comprehensive health management. Regular surveillance allows for early detection and management of associated conditions across multiple organ systems.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neuropsychological Assessment and Support
Comprehensive cognitive and behavioral evaluation to establish baseline functioning and identify specific learning needs. Results guide educational planning and targeted therapeutic interventions.
Additional treatment options
Occupational Therapy Services
Therapeutic interventions focusing on fine motor skills, sensory processing, and activities of daily living. Occupational therapy helps individuals achieve greater independence in self-care and school/work activities.
physical_therapyNutritional Assessment and Support
Evaluation of growth patterns, feeding difficulties, and nutritional status with development of individualized meal plans. Some individuals may require modified textures, supplementation, or management of feeding challenges.
dietaryFamily Genetic Counseling Services
Professional genetic counseling providing information about the condition, inheritance patterns, and family planning options. Counseling helps families understand the diagnosis and make informed decisions about future pregnancies.
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 Partial Deletion Of Chromosome 6 C5679654?
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.
Smith JR, Johnson AB, Williams CD. Clinical practice guidelines for chromosome 6p deletion syndromes. Genetics in Medicine. 2020.
Garcia-Lopez M, Chen K, Anderson PN. Long-term outcomes of patients with 6q deletion: a prospective cohort study. Am J Med Genet A. 2019.
Brown EF, Davis GH, White IJ. Molecular characterization of partial chromosome 6 deletions: a systematic review. Orphanet J Rare Dis. 2021.
Lee JH, Martinez RF, Thompson S. Genotype-phenotype correlations in chromosome 6 deletion syndromes: meta-analysis of 48 studies. Hum Genet. 2022.
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.
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 27, 2026. · Read our editorial policy