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Noonan Syndrome: A Genetic Analysis

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What is a Genetic Disorder? A genetic disorder is the absence of a gene which causes you to have a disease or a condition. Genetic disorders are an abnormality of DNA inherited medical conditions. Noonan syndrome is a genetic disorder that can affect your body in many ways. Noonan syndrome is genetic. It lacks normal development in your body such as facial characteristics, heart problems, short stature, and many other physical issues and developmental delays (Learning about Noonan Syndrome, 2013). First, how it is inherited. Noonan syndrome has a dominant pattern. Having a dominant pattern means that there is a copy of an alternate gene. The likeliness of passing this onto your child would be about 50%. You have a fifty-fifty chance of …show more content…
Well, it all depends on the person. The doctor has to look at the symptoms and the signs the person is having. Noonan Syndrome is affected by the chromosomes so there are many chromosomes that can be affected by this (Learning about Noonan Syndrome, 2013). Some of the chromosomes being PTPN11, a protein coding also known as Protein Tyrosine Phosphatase, Non-Receptor Type 11 (PTPN11, 2017). SOS1, also a protein coding, known as Son of Sevenless Homolog 1 (SOS1, 2017). KRAS, protein coding, also known as KRAS Proto-Oncogene, GTPase (KRAS, 2017). These are the only genes known to be associated with it. Ten to fifteen percent of people diagnosed with it aren’t associated with these and don’t know what ones are damaged causing it to be very difficult to find a cure (Learning about Noonan Syndrome, 2013). Since the symptoms of Noonan syndrome is different for everyone the treatment is also different for everyone. If your heart is affected from this then you are most likely going to be treated as someone else that has a heart issue. They could be given growing hormones if you are having some growing issues. The developmental disabilities are worked out through physical therapy if the equipment is used in the right facility. If the bleeding and bruising symptoms are being shown then the treatments all depend (Mayo Clinic Staff,

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