Isodisomy
| Isodisomy | |
|---|---|
| Synonyms | Uniparental isodisomy |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, growth abnormalities, congenital anomalies |
| Complications | Genetic disorders |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Uniparental disomy, nondisjunction |
| Risks | Advanced maternal age, assisted reproductive technology |
| Diagnosis | Genetic testing, karyotyping |
| Differential diagnosis | Heterodisomy, trisomy |
| Prevention | N/A |
| Treatment | Symptomatic treatment, genetic counseling |
| Medication | N/A |
| Prognosis | Varies depending on associated conditions |
| Frequency | Rare |
| Deaths | N/A |
Isodisomy is a type of uniparental disomy where two copies of a chromosome or part of a chromosome are inherited from one parent. This can occur as a result of meiotic non-disjunction or post-zygotic chromosomal duplication. Isodisomy can lead to a number of genetic disorders, depending on the specific chromosomes involved.
Causes
Isodisomy can occur as a result of two main processes: meiotic non-disjunction and post-zygotic chromosomal duplication. In meiotic non-disjunction, both copies of a chromosome from one parent are passed on to the offspring. This can occur in either the first or second division of meiosis. Post-zygotic chromosomal duplication occurs after fertilization, when a single copy of a chromosome duplicates itself to produce two identical copies.
Genetic Disorders
Isodisomy can lead to a number of genetic disorders, depending on the specific chromosomes involved. These can include Prader-Willi syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome, among others. In these disorders, the presence of two identical copies of a chromosome from one parent leads to an imbalance in genetic material, which can disrupt normal development and lead to a range of health problems.
See Also
References
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Contributors: Prab R. Tumpati, MD