Thursday, May 3, 2007

Trisomy-Nora Lynn Shimko


Trisomy is the presence of an extra chromosome in the cells of a human. Usually people have 46 chromosomes in each cell of their body. Trisomy is when there are 47 chromosomes present. The extra chromosome usually leads to retardation, abnormalities, and heart defects. There are lots of different types of Trisomy but the most common types are Trisomy 21, 18 and 13. The difference between these types of Trisomy is that they all have an extra chromosome, but in different number chromosomes. This syndrome is not found more frequently among particular ethnic groups but Trisomy 18 affects 3x as many girls as it does boys. Trisomy 13 affects about 1 in 5000 babies while Trisomy 18 occurs in 1 in every 3000 babies. Trisomy 21 is more common, it occurs in 1 in every 660 babies. These 3 types of Trisomy are severe and cause death within the majority of infants. Some symptoms that occur when you have Trisomy 13 are mental retardation, seizures, small head, hernias and abnormalities. Seeing as this is disorder is very severe, they don’t attempt to do life-sustaining procedures. It depends on what type of symptoms the patient has in order to attempt to treat them. Surgery is sometimes necessary in order to repair heart defects. Some ways to prevent this disorder are for the parents to have genetic testing and counseling in order to try to prevent them from passing this genetic disorder down to their kids. Most cases of Trisomy 13 cannot be inherited and is more so occurs as random events during the formation of reproductive cells that produce an extra chromosome in error. But translocation Trisomy 13 can be inherited. If a parent has an extra chromosome they can pass it on to their child, which can obtain that extra chromosome. Any type of Trisomy can be severe and can result in death, especially to babies that are born with this disorder.

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