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Genetic Disorders: Trisomy Down Syndrome

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Down Syndrome is a genetic disorder that causes a range of physical disorders and developmental delays. It can be identified by some of the physical attributes the disorder comes with. These include a single deep crease across the palm of the hand, slightly flattened facial profile, and an upward slant to the eyes. To confirm the diagnoses doctors run a karyotype, which is a chromosomal analysis. They do this by extracting a blood sample and grouping chromosomes by size, number and shape. Down Syndrome is not commonly genetically passed down as opposed to what some may think, it happens by random. About 1% of the cases are heredity and 5% come from the father. Although, the risk of having a child diagnosed with down syndrome increase dramatically past the age of 35. “A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40.” (ndss) …show more content…

Trisomy Down Syndrome happens when there are three 21 chromosomes as opposed to the normal two. This is a result of either the sperm or egg failing to separate causing a replication in every cell of the body. Another type called Robertsonian Translocation happens when part of chromosome 21 is translocated to another chromosome to the reproductive cells to the parent or early development of the child. This type accounts for about 4% of all cases of down syndrome. Mosaic is a form of down syndrome when the extra chromosome 21 is found only in some of the body's cells. “Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome.”

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