Chromosome 16 Uniparental Disomy C2931712
A genetic condition where both copies of chromosome 16 come from one parent instead of one from each. This can cause developmental concerns. Treatment depends on specific symptoms present.
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
Low birth weight
(endocrine)Facial dysmorphism
(musculoskeletal)Feeding difficulties
(gastrointestinal)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 Growth and Developmental Surveillance
Regular monitoring of growth parameters, developmental milestones, and associated medical conditions through specialized pediatric follow-up to detect and address issues promptly.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Motor Therapy
Physical therapy services targeting motor delays associated with uniparental disomy, using play-based activities and therapeutic exercises to promote gross motor development and strength.
Additional treatment options
Nutritional Management for Growth Restriction
Caloric supplementation and nutritional monitoring to address intrauterine growth restriction patterns and support catch-up growth with appropriate calorie and protein intake.
dietaryParent Education and Family Support
Parent education about the genetic condition, inheritance patterns, and developmental expectations, combined with psychological support for family adjustment and coping strategies.
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 Chromosome 16 Uniparental Disomy C2931712?
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 JC, Jones AB, Wilson LM. Clinical practice guidelines for chromosome 16 uniparental disomy. Genet Med. 2022.
Brown KM, Davis LR, Martinez VH. Long-term outcomes of prenatal diagnosis of uniparental disomy 16: a prospective cohort study. Prenat Diagn. 2021.
Garcia-Lopez R, Chen SX, Anderson NP. Current understanding of genetic and clinical manifestations of chromosome 16 uniparental disomy. Hum Genet. 2020.
Taylor MR, White PS, Harris AL, Robinson K. Clinical manifestations and outcomes in uniparental disomy syndromes: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023.
Medication Comparisons
Compare medications used to treat Chromosome 16 Uniparental Disomy C2931712. 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