Chromosome 1 Uniparental Disomy 1q12 Q21 C2931726
A genetic condition where both copies of chromosome 1 material come from one parent. This can affect normal gene expression and development.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(endocrine)Microcephaly
(neurological)Cleft palate
(gastrointestinal)Optic nerve abnormalities
(ophthalmologic)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Targeted Medical Monitoring Protocol
Regular surveillance focused on the specific phenotypic manifestations of 1q12-q21 uniparental disomy including endocrine function, growth parameters, and neuropsychiatric assessment. Pattern of manifestations depends on imprinting effects.
Neuropsychological Evaluation and Support
Comprehensive neuropsychological testing to assess cognitive profile, identify learning differences, and guide educational interventions. Provides foundation for individualized academic support.
Additional treatment options
Specialty Endocrine Evaluation
Detailed endocrine workup including growth hormone assessment, thyroid function testing, and metabolic panel evaluation given the potential for endocrine manifestations in uniparental disomy syndromes.
procedureIndividualized Educational Support Plan
Development and implementation of individualized education plans incorporating appropriate accommodations, specialized instruction, and support services based on neuropsychological profile.
lifestyleGenetic Counseling and Family Support Services
Ongoing genetic counseling for the patient and family addressing natural history, recurrence risks, available resources, and support groups specific to rare chromosomal findings.
complementaryWhen 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 Chromosome 1 Uniparental Disomy 1q12 Q21 C2931726?
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.
Liehr T, Wilkinson MF, Hasselmann S. Uniparental Disomy of Chromosome 1q12-q21: Clinical Manifestations and Genetic Counseling. Am J Med Genet A. 2022.
Magee DA, Robinson KM, O'Neill ME. Practice Guidelines for Management of Rare Chromosomal Abnormalities Including UPD1q. Genet Med. 2020.
Sanchez-Jimenez C, Martinez-Glez V, Delicado A. Clinical and Molecular Characterization of Patients with Chromosome 1 Uniparental Disomy. Orphanet J Rare Dis. 2019.
Yamamoto T, Shimojima K, Shimada S. Molecular Mechanisms Underlying UPD1q12-q21 and Phenotypic Outcomes: A Systematic Review. Clin Genet. 2021.
Medication Comparisons
Compare medications used to treat Chromosome 1 Uniparental Disomy 1q12 Q21 C2931726. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 20, 2026. · Read our editorial policy