Assignment On Research On Down Syndrome

1032 words - 5 pages

Down syndrome

An overview of Down syndrome is a chromosomal disorder caused by an error during cell division that results in an extra chromosome 21. This error is known as nondisjunction. This results in the affected person having 47 chromosomes in each cell rather than 46. The extra chromosome 21 can be full or partial. Down syndrome is a lifelong condition that alters the affected's physical features, such as a 'flat' face and a 'short' neck. The affected may also have an intellectual disability. However, the degree to which it affects the individual varies from person to person. Many people born with Down syndrome may also be born with heart, intestine, ear, and breathing problems.

How is Down syndrome diagnosed?
Down syndrome can often be detected during pregnancy by doing tests such as prenatal screening tests and prenatal diagnostics tests.

Prenatal screening tests involve doing blood tests and ultrasounds during the first trimester, which allows the health care provider to check for markers such as proteins that may indicate whether the mother has blood that may increase the likelihood of Down syndrome in the baby. If so, an ultrasound is performed to see if the baby has fluid in the back of its head, which may indicate Down syndrome.

Prenatal diagnostics tests are performed if the screening indicates a likelihood of Down syndrome. Diagnostic testing for Down syndrome involves removing a sample of genetic material. After it is removed, the sample is checked for extra material from chromosome 21, which may indicate that a fetus has Down syndrome. Parents usually get the results of the test a week or two later. Samples can be taken from amniotic fluid, part of the placenta, ad the umbilical cord.

After birth, tests may be used to determine whether a baby has Down syndrome; this can be done by observing whether the baby has features common to those that have the genetic disorder. If the parts are not as clear, as in most cases, a blood test may be taken to confirm whether the individual has Down syndrome.

Inheritance and genetics of Down syndrome is usually not caused by inheritance but is rather random event caused by a chromosomal abnormality. 95% of Down syndrome cases are caused by a 'full trisomy 21' in which a full extra chromosome 21 is present. All full trisomies are associated with the rising ages of the mother-to-be. This older age can be a factor that causes the non-disjunction needed to produce an extra chromosome 21. 75% of these non-disjunctions occur in meiosis 1, while only 25% of them occur during meiosis 2. Non- disjunction sometimes occurs during meiosis when a chromosome doesn't separate. A non-disjunction can occur during meiosis 1 if members of a pair of homologous chromosomes did not move apart properly or during meiosis 2 if sister chromatids fail to separate. As a result, one gamete receives two of the same type of chromosome, and another gamete receives no copy. If either of the gametes uni...

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