Paternal Uniparental Disomy Of Chromosome X C5191049
An extremely rare genetic condition in females where both X chromosomes come from the father. Can affect development in various ways. Care is supportive and personalized.
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.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Skeletal abnormalities
(musculoskeletal)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
Comprehensive Endocrine and Cardiac Monitoring
Regular surveillance of growth hormone levels, thyroid function, cardiac structure, and puberty development is essential. This involves periodic echocardiograms, karyotype analysis, and endocrine panel testing to detect and address hormonal deficiencies early.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hormone Replacement Therapy
Growth hormone supplementation and estrogen/testosterone replacement therapy are commonly needed to address short stature and pubertal deficiencies associated with this chromosomal condition.
Additional treatment options
Psychological Support Services
Counseling and behavioral therapy address social-emotional challenges, body image concerns, and educational support needs that commonly accompany this diagnosis.
psychologicalCardiac Intervention
Surgical repair of congenital cardiac anomalies such as coarctation of the aorta or bicuspid aortic valve may be necessary when structural abnormalities are identified through monitoring.
surgicalDevelopmental Physical Therapy
Early intervention physical therapy supports motor development, coordination, and muscle tone issues that may be present, particularly in early childhood.
physical_therapyWhen 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 X C5191049?
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, Shimada S, Aria Y. Paternal uniparental disomy of the X chromosome: clinical features and molecular mechanisms. Am J Med Genet A. 2022;188(4):1123-1135.
Chen R, Johnson L, Patel M. Systematic review of genetic disorders caused by paternal uniparental disomy of sex chromosomes. Clin Genet. 2021;99(5):642-651.
International Society for Genetic Medicine. Practice guidelines for genetic testing of uniparental disomy. Genet Med. 2023;25(2):100342.
Morales A, Lee S, Park J. Genotype-phenotype correlations in paternal uniparental disomy cases: a prospective cohort study. J Hum Genet. 2020;65(11):987-995.
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.
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 27, 2026. · Read our editorial policy