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Many people are born with genetic diseases that manifest themselves in one way or another throughout their lives. One of these abnormalities is Downs syndrome, which occurs as a result of abnormal cell division. The syndrome manifests immediately at birth and is caused by an atypical number of chromosomes. People without genetic pathologies have 23 pairs of chromosomes from each parent, which equals 46 units. However, with Down syndrome, an extra chromosome appears in the 21st pair, called trisomy on the 21st pair of chromosomes (Sargsyan, 2020). It affects the formation of the body and mental health of a person.
In addition, any genetic disease affects the genes of patients. In the case of Down syndrome, the number of genes in the extra chromosome is still unclear; however, this number can vary from 200 to 300 units. These genes are responsible for the average production of proteins in the body and give instructions for their formation. Proteins are the essential molecules that are responsible for performing various functions within the cell. At the same time, the state of Down syndrome can be different, and in addition to trisomy 21, translocation Down syndrome and mosaic Down syndrome are distinguished. In translocation syndrome, the patient has three copies of chromosome 21, but one is attached to the other (Sargsyan, 2020). The mosaic syndrome is different because some cells have an extra chromosome and mix like a mosaic. However, the last two types are rare, and many cases are trisomy 21.
At the same time, Down syndrome has its pronounced markers. On ultrasound during pregnancy, the brains ventricles may be enlarged and the nasal bone reduced or absent. External signs are characterized by the following patterns: narrow, widely spaced eyes, short and wide neck, flat face and back of the head, small nose, constantly open mouth, and malocclusion. Additionally, there is no treatment or prevention for Down syndrome. Currently, there are no proposals in the medical community regarding ways to prevent the disease. Accordingly, at the stage of planning pregnancy, parents can get advice from a geneticist about possible risks.
References
Sargsyan, A. (2020). Essential Notes on Pathophysiology for Advanced Practice Nurses. East Tennessee State University.
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