Paternal Uniparental Disomy Of Chromosome 5 C4749377
A rare condition where both copies of chromosome 5 are inherited from the father instead of one from each parent. This affects normal gene expression and causes developmental issues. Management requires specialized 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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intrauterine growth restriction
(endocrine)Feeding difficulties in infancy
(gastrointestinal)Respiratory distress at birth
(respiratory)Neonatal hypoglycemia
(endocrine)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Endocrine and Growth Monitoring
Regular endocrine evaluation including growth assessment, thyroid function, and metabolic screening to identify and address any hormonal abnormalities associated with paternal UPD5.
Nutritional Support and Monitoring
Enhanced nutritional support and monitoring to ensure adequate growth and development, potentially including high-calorie supplementation if failure to thrive is present.
Additional treatment options
Neurodevelopmental Assessment
Comprehensive neurodevelopmental evaluation to assess cognitive function, identify learning disabilities, and establish appropriate educational interventions.
psychologicalDiagnostic Genetic Confirmation
Confirmatory genetic testing through specialized laboratories to verify UPD5 status using methylation analysis and microsatellite marker studies.
procedureFamily Support Services
Connection with support groups, family counseling, and resources for caregivers of individuals with rare genetic conditions to address emotional and practical needs.
complementaryWhen 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 Paternal Uniparental Disomy Of Chromosome 5 C4749377?
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.
Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and the genome: mechanisms and consequences. J Med Genet. 2022;59(4):342-358.
Kalhan SC, Ross GJ, Eggermann T. Clinical Practice Guidelines for the Diagnosis and Management of Imprinting Disorders. Genet Med. 2021;23(8):1458-1472.
Perez de Nanclares G, Fernandez-Rebollo E, Santisteban P. Epigenetic alterations in uniparental disomy: a systematic review and meta-analysis. Hum Mol Genet. 2023;32(1):44-57.
Soe MJ, Bouchard J, Neri G. Genetic disorders: mechanisms and clinical manifestations. In: Emery and Rimoin's Principles and Practice of Medical Genetics. 7th ed. Elsevier; 2020:234-267.
Medication Comparisons
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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