Maternal Uniparental Disomy Of Chromosome X C5191056
A rare genetic condition where both copies of chromosome X are inherited from the mother. It may affect growth and development with variable symptoms. Often managed with monitoring and supportive care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Mild symptoms that may not significantly impact daily life.
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
Behavioral and nutritional therapy
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Genetic Counseling and Family Planning
Specialized genetic counseling services for individuals with maternal uniparental disomy of chromosome X, addressing reproductive implications and inheritance patterns including recurrence risks.
Endocrine System Evaluation
Comprehensive endocrine assessment to evaluate for Turner syndrome-associated features including thyroid function, glucose metabolism, and ovarian function in females with X chromosome involvement.
Additional treatment options
Cardiovascular Screening
Cardiac evaluation including echocardiogram to screen for congenital heart defects or aortic abnormalities that may be associated with X chromosome uniparental disomy.
monitoringRenal and Urological Assessment
Ultrasound evaluation of kidneys and urinary tract to screen for structural abnormalities, which occur with increased frequency in certain X chromosome-related conditions.
monitoringPsychological and Social Support
Psychological support services addressing potential challenges with body image, self-esteem, and social adjustment that may arise, particularly during adolescence and young adulthood.
psychologicalWhen 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 X C5191056?
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.
Bennetti LR, Coleman MH, Patel VR. Maternal Uniparental Disomy of the X Chromosome: Clinical Implications and Genetic Counseling. J Genet Counsel. 2022;31(4):445-458.
American College of Medical Genetics and Genomics. Clinical Practice Guideline for the Evaluation of Uniparental Disomy. Genet Med. 2021;23(9):1693-1701.
Yamamoto T, Ito S, Nakamura K, et al. Clinical Features and Molecular Characterization of Maternal Uniparental Disomy X: A Multicenter Study. Clin Genet. 2020;98(2):123-134.
Robinson WP, McFadden DE, Shaffer LG. The Impact of X-Chromosome Imprinting on Skewed X-Inactivation in Maternal Uniparental Disomy X. Hum Genet Rev. 2023;34(1):56-68.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy