Uniparental disomy of 10
=Uniparental Disomy of Chromosome 10 =
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. This can lead to various genetic disorders depending on the chromosome involved. Uniparental disomy of chromosome 10 is a rare genetic condition that can have significant implications for the affected individual.
Overview[edit | edit source]
Uniparental disomy of chromosome 10 can result in a variety of clinical manifestations, depending on whether the disomy is isodisomy (two identical copies from one parent) or heterodisomy (two different copies from one parent). The effects can also vary based on whether the disomy involves the entire chromosome or just a segment.
Causes[edit | edit source]
UPD can occur due to errors in meiosis, the process of cell division that produces gametes. It can also result from trisomy rescue, where an embryo initially has three copies of a chromosome but loses one to restore the normal number of chromosomes. In the case of chromosome 10, this can lead to uniparental disomy if the remaining two copies are from the same parent.
Clinical Features[edit | edit source]
The clinical features of uniparental disomy of chromosome 10 are not well-defined due to its rarity. However, potential features may include growth abnormalities, developmental delays, and other congenital anomalies. The specific symptoms can vary widely among individuals.
Diagnosis[edit | edit source]
Diagnosis of UPD typically involves genetic testing, such as karyotyping or more advanced techniques like SNP arrays or whole-genome sequencing. These tests can identify the presence of two copies of chromosome 10 from one parent.
Genetic Counseling[edit | edit source]
Genetic counseling is recommended for families affected by UPD of chromosome 10. Counselors can provide information about the condition, its inheritance patterns, and the risks for future pregnancies.
Research and Future Directions[edit | edit source]
Research into UPD of chromosome 10 is ongoing, with studies focusing on understanding the mechanisms behind UPD and its clinical implications. Advances in genetic testing and analysis continue to improve our ability to diagnose and understand this rare condition.
See Also[edit | edit source]
External Links[edit | edit source]
- [Genetics Home Reference - Uniparental Disomy](https://ghr.nlm.nih.gov/)
- [OMIM - Uniparental Disomy of Chromosome 10](https://www.omim.org/)
NIH genetic and rare disease info[edit source]
Uniparental disomy of 10 is a rare disease.
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