In order to understand uniparental disomy, it is important to underscore how children inherit some conditions from their parents. This happens under the influence of genetic imprinting and uniparental disomy. Normally, children inherit a pair of genes from both parents and these genes are active in the cells of the body. In some unusual cases, it is possible to find one pair turned on. What determines the active copy is the parent of origin since some have the active copy from the father while others inherit it from the mother. This concept is genomic imprinting. However, the activity of genes could also be controlled scientifically through methylation. This is where you attach a methyl group to a gene to inhibit its activity.
Genomic imprinting is a rare phenomenon. According to research, the prevalence stands at one person per 10,000 to 20,000. While this is the case, researcher are yet to agree on what causes varied genomic imprinting cases. Notably, imprinted genes have a tendency of clustering together in some regions of the chromosomes. There are two major clusters of these genes. The first one represents those on chromosome 11 and on chromosome 15. As we have mentioned, there are cases when one pair of genes, either from the mother or father is not active. On the other hand, scenarios exist where a person receives two pairs of chromosomes from one parent and misses the other parent. This is called uniparental disomy, abbreviated as UPD. Normally, there is no pattern for this as it occurs randomly during formation of sperm or egg. It may also take place during early stages of fetal development.
It is vital to note that UPD is usually harmless on health or development of an individual. This is always the case since the genes are not imprinted and therefore it does not matter whether you inherit the two pairs from one parent or from father and mother. Whilst this is the cases, there are cases when it matters if you inherit both pairs from one parent. In addition, people with UPD may lack copies of important copies of genes that go through genomic imprinting. As a result, victims are likely to experience late development and mental retardation among other medical complications.
Besides disruption of genomic imprinting, UPD may lead to a wide range of genetic disorders. A common example of these is Prader-Willi syndrome, which is manifested by as excessive eating and obesity. Additionally, Angelman syndrome causes mental retardation and impaired speech. It is worthy noting that these disorders could be caused by UPD or imprinting errors, which occur on chromosome 15. Even though UPD is a rare phenomenon, it is vital to carry out on certain individual, with the highest likelihood of having the condition. For example, medical experts recommend that fetus with complete Trisomy to be tested. Moreover, children born with level II mosaicism have higher chances of developing the condition and should be screened. It is also necessary for doctors to take ultrasound results seriously and any anomalies detected to be pursued. It is also the role of parents to observe the development progress of kids at early stages. Children with multiple congenital problems and mental retardation usually have Robertsonian translocation.
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