Down Syndrome in Karyotype Studies Essay

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A karyotype is defined as a set of chromosomes inherent in each person. Karyotype studies are carried out to determine the number of chromosomes in individuals and to identify abnormalities that can cause genetic diseases. Thus, any abnormalities in the chromosome set can also cause infertility, hereditary disease, the birth of a sick child. Down syndrome is a disease characterized by the presence of an additional chromosome in humans. The chromosome set determines how the body develops and forms during pregnancy and after birth. Usually, a person is born with forty-six chromosomes; with Down syndrome, children have an extra copy of one of these chromosomes, chromosome twenty-one. Frequent external manifestations of the disease are the flattened face, almond-shaped, the tongue that tends to stick out of the mouth.

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The difficulties mentioned in the “Perfect Video” are very similar to those faced by the Herzenberg family. This is due to the fact that both families have children with down syndrome. One of the main problems in the video was the initial desire of the main character to get rid of the child, which the man still regrets (Hershkowitz). The challenge is how difficult it is sometimes psychologically to accept that a child can have such a complex syndrome.

Both families took steps to spread awareness about down syndrome and acted to show that people with this disease are no different from others. The Herzenberg family developed a particular test that allowed to identify the problem at an early stage (Harris para. 14). The audio provided in the article talks about how necessary the prenatal test is for the transformation of modern medicine. This was done to get rid of situations when women gave birth to children and learned about deviations only after the baby was born.

Works Cited

Harris, Mary. “Only Human: A Birth That Launched The Search For A Down Syndrome Test.” Shots, Web.

Hershkowitz, Toby. “E:60 – “Perfect” – Heath White.” Vimeo, 2015.

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"Down Syndrome in Karyotype Studies." IvyPanda, 22 Feb. 2023, ivypanda.com/essays/down-syndrome-in-karyotype-studies/.

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IvyPanda. (2023) 'Down Syndrome in Karyotype Studies'. 22 February.

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IvyPanda. 2023. "Down Syndrome in Karyotype Studies." February 22, 2023. https://ivypanda.com/essays/down-syndrome-in-karyotype-studies/.

1. IvyPanda. "Down Syndrome in Karyotype Studies." February 22, 2023. https://ivypanda.com/essays/down-syndrome-in-karyotype-studies/.


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IvyPanda. "Down Syndrome in Karyotype Studies." February 22, 2023. https://ivypanda.com/essays/down-syndrome-in-karyotype-studies/.

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