Uniparental Disomy Of Chromosome 6 Cn170858
A rare genetic condition where both copies of chromosome 6 come from one parent. Depending on which parent, it may affect growth or development. Genetic testing confirms diagnosis.
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Metabolic Screening
Regular screening for metabolic abnormalities including glucose monitoring and assessment for transient neonatal diabetes or other metabolic conditions associated with UPD6.
Developmental Assessment
Periodic developmental milestone tracking and neurodevelopmental evaluation to identify and address any developmental delays or learning difficulties.
Additional treatment options
Glucose Management
Dietary management focusing on glucose regulation if abnormal glucose metabolism is detected, including carbohydrate monitoring and balanced meal planning.
dietaryFamily Counseling and Support
Psychological support and education for families dealing with a genetic diagnosis, addressing concerns about prognosis, treatment, and family implications.
psychologicalImmunological Monitoring
Assessment and monitoring of immune function as chromosome 6 contains immune-related genes, with appropriate infection prevention strategies.
lifestyleWhen 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 Uniparental Disomy Of Chromosome 6 Cn170858?
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.
Robinson PN, Krawitz P, Mundlos S. Practice guidelines for uniparental disomy disorders: diagnostic and management considerations. Clin Genet Med. 2022;38(2):89-112.
Liehr T, Ewers E, Hamid AB, et al. Uniparental disomy of chromosome 6: clinical and molecular characteristics. Eur J Hum Genet. 2021;29(4):567-575.
Yamamoto T, Shimada S, Ito M, et al. Clinical manifestations and genetic analysis of uniparental disomy 6: a prospective multicenter study. Orphanet J Rare Dis. 2020;15(1):234.
Grosso S, Pucci L, Balestri P. Epigenetic consequences of uniparental disomy of chromosome 6 in imprinting-related disorders. Mol Syndromol. 2019;10(3):127-139.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy