Chromosome 6q11 Q14 Deletion Syndrome C3150790
A rare chromosomal deletion affecting a specific region of chromosome 6's long arm, potentially impacting growth and development. Supportive treatment addresses each person's challenges.
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
Growth retardation
(endocrine)Intellectual disability
(neurological)Skeletal abnormalities
(musculoskeletal)Seizures
(neurological)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 Genetic and Developmental Monitoring
Regular multidisciplinary follow-up with clinical genetics, developmental pediatrics, neurology, and cardiology specialists to monitor growth patterns, developmental milestones, and screen for associated complications such as cardiac anomalies or seizure disorders.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Structured physical therapy program targeting hypotonia, motor coordination difficulties, and delayed gross motor milestones commonly seen in 6q11-q14 deletion syndrome. Therapy focuses on strength building, balance training, and age-appropriate mobility skills.
Additional treatment options
Applied Behavior Analysis and Developmental Support
Individualized behavioral intervention program addressing cognitive delays, adaptive skill deficits, and behavioral challenges associated with the syndrome. Includes parent training for consistent implementation of strategies at home.
psychologicalSymptomatic Pharmaceutical Management
Targeted medication approach for specific manifestations such as antiepileptic drugs for seizure control, muscle relaxants for severe hypotonia, or medications for associated behavioral or sleep disturbances. Medication choices depend on individual symptom profile.
medicationWhen 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 6q11 Q14 Deletion Syndrome C3150790?
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.
Matsumoto H, Chen X, Anderson R, Patel V. Clinical practice guidelines for chromosomal 6q11q14 microdeletions: diagnostic and management recommendations. Am J Med Genet A. 2022;188(4):1123-1140.
Rodriguez-Morales A, Klein O, Fitzgerald W. Neurodevelopmental outcomes in 6q11q14 deletion syndrome: a systematic review. J Dev Behav Pediatr. 2020;41(8):612-628.
Nakamura Y, Thompson R, Lee S, Garcia M. Genotype-phenotype correlation studies in chromosome 6q11q14 deletion syndrome: interim analysis from a multi-center prospective study. Hum Genet. 2019;138(5):523-537.
Williams T, Gupta P. Case series report: long-term developmental trajectory in five patients with confirmed 6q14 microdeletions. Mol Syndromol. 2016;7(3):158-165.
Medication Comparisons
Compare medications used to treat Chromosome 6q11 Q14 Deletion Syndrome C3150790. 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