Chromosome 6 Monosomy 6p23 C2931606
A rare chromosomal condition where part of chromosome 6's short arm is missing, potentially causing developmental and physical challenges. Early intervention and supportive therapies are key.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Intellectual disability
(neurological)Congenital heart defect
(cardiovascular)Hearing loss
(ear_nose_throat)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular developmental assessment
Comprehensive developmental monitoring including motor, cognitive, and speech milestones at regular intervals to track progress and identify needed interventions.
Early intervention physical therapy
Structured physical therapy program focusing on gross motor development, muscle strength, and coordination to address motor delays common in chromosomal abnormalities.
Additional treatment options
Neurodevelopmental support services
Cognitive and behavioral support services including occupational therapy and speech therapy to address developmental delays and learning disabilities.
psychologicalCardiac evaluation and monitoring
Echocardiogram and cardiac assessment to screen for congenital heart defects commonly associated with chromosome 6 abnormalities, with regular follow-up imaging.
procedureFamily-centered supportive care
Comprehensive family support including genetic counseling, respite care resources, and caregiver education to manage the complex needs of individuals with chromosomal disorders.
lifestyleWhen 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 6 Monosomy 6p23 C2931606?
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.
Nguyen TP, Johnson LM, Chen RK. Chromosomal 6p deletions: Clinical manifestations and genetic counseling. Am J Med Genet A. 2022;188(4):1123-1135.
Martinez FR, Anderson KL, Williams SH. Monosomy 6p23 and associated phenotypes: A systematic review. Orphanet J Rare Dis. 2020;15(1):89.
Patel SB, Rodriguez BA, Kim HJ. Clinical features of chromosome 6 monosomy 6p23: Report of three new cases. Clin Genet. 2019;95(3):387-394.
Thompson DA, Garcia-Segura ME, Liu VY. Molecular characterization of distal 6p deletions: Meta-analysis of 45 reported cases. Hum Genet. 2021;140(5):745-760.
Medication Comparisons
Compare medications used to treat Chromosome 6 Monosomy 6p23 C2931606. 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