Approximately three to four percent of babies born every year are born with some kind of genetic

700 WordsApr 23, 20193 Pages
Approximately three to four percent of babies born every year are born with some kind of genetic disorder. A genetic disorder is described as an illness caused by an error in one’s genome, and is usually hereditary. To understand how these errors occur, one must first understand the basic concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to 30,000 genes in their genome. Chromosomes contain these genes and DNA. Humans have 23 pairs of chromosomes or a total of 46 chromosomes. One pair of these chromosomes determines the sex of a person while the other 22 are autosomal, meaning that they determine the rest of…show more content…
This event is called nondisjunction. Down Syndrome is the most common example of a trisomy chromosomal abnormality among humans. An individual who suffers from Down Syndrome, also known as Trisomy 21 would have three copies of chromosome 21 instead of the usual two, resulting in a total of 47 chromosomes. Those who suffer from Down Syndrome have intellectual disability and are usually marked by short stature, short, stocky arms and legs, flattened facial features, slanted eyes, and other symptoms that range in severity depending on the person. An example of a monosomy chromosomal abnormality would be Turner Syndrome. Turner Syndrome only occurs in women and is caused by monosomy X, which is an absence of that entire sex chromosome, leaving only 45 chromosomes. Women affected by Turner Syndrome usually have normal intelligence but are characterized by their short stature, loss of ovarian function, and sometimes a webbed neck or swelling of hands and feet. The second type of chromosomal abnormalities is structural abnormalities. These include abnormalities due to deletions, duplications, translocations, inversions, or rings. Deletions are when a part of a chromosome is either missing or deleted. An example of disorder caused by deletion is Wolf-Hirschhorn Syndrome which occurs due to partial deletion of the short arm of chromosome 4. Duplications occur when a portion of a

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