Distal Trisomy 1p36 C4707665
A chromosomal disorder caused by extra genetic material at the end of chromosome 1. It affects development and can cause heart defects, seizures, and intellectual disability. Treatment focuses on managing specific symptoms and providing supportive care.
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
Seizures
Developmental delay
(nervous)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(head and neck)Cardiac anomalies
(cardiovascular)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 and Neurologic Screening Protocol
Comprehensive initial screening including echocardiogram, brain MRI, EEG, and hearing evaluation, followed by surveillance protocols for structural heart disease, seizures, and sensorineural hearing loss common in distal 1p36 deletion.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Intensive Early Developmental Therapy
Early intervention combining physical, occupational, and developmental therapy to maximize neuroplasticity during critical developmental windows, addressing hypotonia, motor delays, and sensory integration issues.
Additional treatment options
Anticonvulsant Therapy for Seizure Disorders
Individualized antiepileptic drug therapy based on seizure classification and EEG findings, with regular monitoring of efficacy and side effects in patients with distal 1p36-related epilepsy.
medicationNutritional Support for Feeding Difficulties
Comprehensive feeding assessment and nutritional support addressing dysphagia, poor weight gain, and gastrointestinal issues common in distal 1p36 deletion, potentially including modified textures and feeding tubes.
dietaryBehavioral and Psychiatric Intervention
Specialized behavioral health services addressing emotional regulation difficulties, anxiety, and behavioral challenges characteristic of distal 1p36 deletion, using evidence-based approaches adapted for intellectual disability.
psychologicalWhen 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 1p36 C4707665?
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 1p36 C4707665. 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