Submitted By sophiaeantognini
Sophia Antognini SMA
Pima Medical Institute
Some diseases and disorders are things that can happen to you later in life, for example skin cancer or hair loss, diabetics or an STD; but there is a good amount of diseases that are related to genetics or hereditary and some of which are even chromosome linked. One disease that is chromosome linked is Turner Syndrome named after Dr. Henry Turner who discovered the disorder in 1938. It occurs in female births only in about 1 in 20,000 births worldwide (National Human Genome Research Institute, 2011) and in the United States 60,000 female births are affected with 800 new cases diagnosed each year ( University of Utah, 2012). Turner Syndrome is caused by a missing X chromosome error during the formation of the egg to embryo. It is not yet known from which one of the parent’s chromosome causes this to happen. Turner Syndrome may be found during a mother’s pregnancy when performing an ultrasound test by observing for signs of poor development such as swollen hands and feet or for an irregular heart beat. (Collin, 2006) Other prenatal testing of cells from the fetus, blood hormone levels of luteinizing all of which can also help determine the suspicion (Zieve, 2008). It can also be detected at birth because of the heart problems and physical features observed. Turner Syndrome mostly affects the visual physical features of the female with few internal health problems.
The most common physical malformation is height; females born with this Syndrome are shorter with an average height of 4ft 8in (University of Utah, 2012).This syndromes internal health problems are high blood pressure, heart and kidney problems; which can be treated with surgery or medication depending on the severity. Other physical features are extra skin on the neck as well as a webbed neck, Lymphedema of the hands and feet, as...