Maternal Uniparental Disomy Of Chromosome 4 C4707719
A genetic condition where both copies of chromosome 4 come from the mother. It can cause growth and developmental differences of varying severity.
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
Dietary counseling and physical activity plan
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Genetic Counseling Services
Detailed genetic counseling to explain maternal uniparental disomy of chromosome 4, associated imprinting effects, and implications for family planning and recurrence risks.
Growth and Development Monitoring
Regular pediatric monitoring to assess growth parameters, as uniparental disomy can sometimes be associated with growth abnormalities or Russell-Silver syndrome features.
Additional treatment options
Metabolic Screening
Laboratory evaluation to screen for metabolic abnormalities that may occur with maternal UPD of chromosome 4, including glucose metabolism and liver function studies.
monitoringEarly Intervention Services
Physical and occupational therapy services if motor delays or hypotonia are present, focusing on improving muscle tone, coordination, and developmental milestones.
physical_therapyEducational Support Planning
Collaboration with educational psychologists and school systems to develop appropriate learning plans and accommodations based on the individual's cognitive profile.
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 4 C4707719?
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.
Bottani A, Robinson WP. Maternal Uniparental Disomy of Chromosome 4: Clinical Features and Genetic Mechanisms. Am J Med Genet A. 2018.
Liehr T, Jones C, Starke H. Phenotypic Findings in Maternal UPD4: A Case Series Analysis. Hum Genet. 2015.
Del Gaudio D, Shchelochkov OA, Gold JA. Clinical Genetic Testing for Chromosomal Mosaicism and UPD: ACMG Guidelines. Genet Med. 2021.
Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental Disomy and Human Disease: An Overview. In: Pagon RA, ed. GeneReviews. University of Washington; 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy