Noonan Syndrome Is Agenetic Birth Defect That Results In

Noonan syndrome is a genetic birth defect that results in many physical deformities and possible developmental handicaps. Noonan Syndrome affects male children while Turner Syndrome affects females. This paper will focus solely on Noonan Syndrome, which affects 1 in approximately 2,000 people. Complications include but are not limited to: short stature, widely spaced eyes, some form of heart disease, and stunted puberty or infertility. Noonan syndrome is a biochemical disorder that occurs before a person is born and is formed through the genetic makeup of the parents that result in that of their offspring. The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this†¦show more content†¦These causes specifically are completely biochemical, occurring within the chemical processes that develop the fetus. A single gene defect goes hand in hand with inheritance. All genes are inherited therefore so are bad genes; a single gene defect is that, a gene for a disease is inherited and manifests as a birth defect. Then, there’s chromosomal abnormalities. Chromosomes are those structures within our cells that contain genes. If an abnormality occurs (such as a replacement, of one piece of the gene for another) this will also results in a birth defect within the fetus. Noonan Syndrome is the result of a chromosomal abnormality. This specific type of abnormality can only be detected by deep molecular testing of the parents and the offspring who has been affected by Noonan syndrome. Detection then becomes a tricky process as the signs and symptoms of the defect can be misdiagnosed as their individual appearances. A short stature can be seen as just a physical abnormality, the same for eye spacing and other physically noticeable attributes. The heart diseases can be seen as completely separate problems as well. For this reason cases of Noonan syndrome can persist into a person s adult life completely undiagnosed. Detection therefore relies on the parents being genetically tested before ever conceiving. Noonan syndrome through inheritance is of an autosomal dominant pattern. That