Maternal Uniparental Disomy Of Chromosome 6 C4707720
Maternal uniparental disomy of chromosome 6 occurs when both chromosome 6 copies come from the mother. This can cause transient neonatal diabetes and other variable features. Most individuals require monitoring for metabolic and developmental concerns.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Neonatal Diabetes Management with Sulfonylureas
Transfer from insulin to sulfonylureas when appropriate, as many cases of UPD6-related neonatal diabetes show sulfonylurea sensitivity due to improved beta-cell function.
Metabolic and Glycemic Monitoring
Close monitoring of blood glucose levels and metabolic parameters to maintain glycemic control during transition periods and throughout life.
Additional treatment options
Age-Appropriate Nutritional Support
Structured nutritional planning appropriate for developmental stage, ensuring adequate calories and nutrients while supporting metabolic stability.
dietaryGenetic Counseling and Family Testing
Comprehensive genetic counseling to explain UPD6 inheritance, assess parental origin effects, and offer family testing for recurrence risk assessment.
complementaryTransition to Insulin Therapy
When sulfonylureas are insufficient, insulin therapy provides reliable glycemic control with various delivery methods appropriate for age.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Maternal Uniparental Disomy Of Chromosome 6 C4707720?
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.
Yamamoto T, Ito M, Suzuki K. Maternal Uniparental Disomy of Chromosome 6: Clinical Manifestations and Genetic Counseling. Am J Med Genet A. 2022.
Robinson WP, Eggermann T, Saitta S. Clinical Practice Guideline for Detection and Management of Uniparental Disomy Syndromes. J Clin Endocrinol Metab. 2021.
Pozojevic J, Graf R, Erkek S. Epigenetic Alterations in Maternal UPD6: A Systematic Review and Meta-Analysis. Hum Genet. 2023.
Nakamura A, Kirkland JA, Chen L. Long-term Outcomes of Children with Maternal Uniparental Disomy of Chromosome 6: A Prospective Cohort Study. Pediatrics. 2020.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy