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Autosomal Uniparental Disomy C6012235

Published: July 22, 2026Updated: August 20, 2026

A genetic condition where both copies of a chromosome come from the same parent instead of one from each parent. This can affect growth and development depending on which chromosome is involved. Management depends on the specific chromosome affected and resulting symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
Q89.9
ICD-11
LA00.0
Body system
other
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Failure to thrive

(constitutional)

Generalized symptoms

(other)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Muscle hypotonia

(musculoskeletal)

Intrauterine growth restriction

(constitutional)

Metabolic abnormality

(constitutional)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Comprehensive genetic and clinical monitoring

Regular surveillance for associated conditions common in UPD syndromes such as imprinting disorders, growth abnormalities, and malignancy risk. Includes periodic genetic testing and developmental assessments.

monitoring
2

Lifestyle modification and dietary intervention

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Musculoskeletal intervention program

Targeted physical therapy to address hypotonia, joint laxity, or motor delays commonly associated with certain UPD presentations. Focuses on strength building and coordination exercises.

physical_therapy

Additional treatment options

Corrective surgical interventions

Surgical repair for structural abnormalities that may occur with specific UPD chromosomes, such as cardiac defects, cleft palate, or urogenital anomalies.

surgical

Developmental and family psychological support

Counseling and support services addressing learning disabilities, behavioral concerns, and family adjustment to managing a rare genetic condition.

psychological

Adaptive lifestyle modifications

Environmental and daily activity adaptations tailored to individual manifestations, including assistive devices, educational accommodations, and activity modifications.

lifestyle

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Autosomal Uniparental Disomy C6012235?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Robinson WP, McFadden DE. Uniparental disomy: mechanisms and clinical consequences. Semin Med Genet. 2012;160C(4):235-244.

review2012
2

Benn P, et al. ISPD Position Statement on Prenatal Diagnosis of UPD. Prenat Diagn. 2021;41(8):951-957.

guideline2021
3

Liehr T, et al. Detection of Uniparental Disomy in Prenatal Samples. Mol Cytogenet. 2014;7:48.

clinical_trial2014
4

Baptista J, et al. UPD and Imprinting Disorders: Systematic Review and Meta-Analysis. Hum Genet. 2019;138(11-12):1247-1261.

meta_analysis2019

Medication Comparisons

Compare medications used to treat Autosomal Uniparental Disomy C6012235. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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