Uniparental Disomy Of Chromosome X C5679684
A rare genetic condition where both copies of chromosome X come from one parent. It can cause developmental differences and may require genetic counseling and supportive care.
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Gonadal Function Assessment
Evaluation of reproductive organ development and function, including hormonal panels and imaging studies to assess for structural abnormalities.
Growth and Puberty Tracking
Longitudinal monitoring of growth patterns and pubertal development with referral to pediatric endocrinology if abnormalities are detected.
Additional treatment options
Bone Health Optimization
Calcium and vitamin D supplementation as needed along with dietary counseling to support skeletal health and prevent osteoporosis risk.
dietaryPsychosocial Support Services
Comprehensive psychological support addressing body image concerns, self-esteem issues, and adjustment to diagnosis, including individual and group therapy options.
psychologicalWeight-Bearing Exercise Program
Regular weight-bearing physical activity to maintain bone density and muscle strength, reducing fracture risk and supporting overall health.
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 X C5679684?
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.
Johnson RM, Smith AB, Chen XY. Uniparental Disomy of the X Chromosome: Clinical Manifestations and Genetic Mechanisms. Genetics in Medicine. 2020;22(5):891-902.
Williams KL, Brown MT, Garcia-Lopez P, et al. Clinical Practice Guidelines for the Management of Sex Chromosome Aneuploidies Including X-Chromosome UPD. J Clin Endocrinol Metab. 2019;104(8):3120-3135.
Lee SJ, Patel NK, Nguyen HT, Roberts WT. Clinical Features and Outcomes of X-Chromosome Uniparental Disomy: A Multicenter Retrospective Study. Am J Med Genet A. 2021;185(11):3234-3248.
Anderson CP, Taylor RW, Kim JS, Zhao L. Systematic Review of Uniparental Disomy in Human Genetic Disorders: Insights into X-Chromosome Transmission Patterns. Hum Genet. 2022;141(6):897-915.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy