Distal Trisomy 14q C2931702
A rare chromosomal abnormality where extra genetic material is present on chromosome 14's long arm, causing developmental delays and multiple medical issues. Care is supportive and addresses individual symptoms.
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.
Warning signs - seek immediate care
Congenital heart defect
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Microcephaly
(neurological)Skeletal anomalies
(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
Cardiac Evaluation and Surveillance
Regular echocardiograms and cardiology consultations to detect and manage congenital heart defects commonly associated with distal trisomy 14q, including ventricular septal defects and atrial septal defects.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Specialized therapeutic exercises and developmental activities targeting motor delays, hypotonia, and coordination difficulties commonly observed in chromosomal disorders.
Additional treatment options
Surgical Correction of Structural Anomalies
Surgical intervention for correcting congenital malformations including cardiac defects, cleft palate, or skeletal abnormalities as medically indicated.
surgicalDevelopmental and Behavioral Support
Comprehensive psychological assessment and behavioral interventions to address developmental delays, learning disabilities, and behavioral challenges associated with the condition.
psychologicalGenetic Counseling and Family Planning
Detailed genetic counseling to help families understand the chromosomal abnormality, inheritance patterns, recurrence risks, and prenatal testing options for future pregnancies.
procedureWhen 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 Distal Trisomy 14q C2931702?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Distal Trisomy 14q C2931702. 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 25, 2026. · Read our editorial policy