Turner Syndrome
In 1939, Dr. Turner published the first report on the symptoms of Turner Syndrome. It was published as “A Syndrome of Short Stature, webbed beck and infantilism”. It was a report on seven girls who shared similar features to each other. Dr. Turner helped with the advancement of treatment for the girls with the syndrome. He did this by pioneering the use of exogenous sex steroids for treating ovarian failure (“Years of Medical Advances in Turner Syndrome”) . Today, Turner Syndrome occurs in 1 in 2,500 females worldwide. 15% of spontaneous abortions of female fetuses have it. Turner Syndrome is defined by “a chromosomal condition that affects development in females. ” (“Turner Syndrome”).
Turner Syndrome is caused by a chromosome abnormality. Normally, females will have two X chromosomes (XX) and males will have one X and one Y chromosome (XY) (Matthews). In Turner Syndrome, there is a defect in the X Chromosome. It is either a monosomy X, meaning, there is only one, single X chromosome or an Mosaicism, meaning the second chromosome is either incomplete or rearranged. Basically, there is only one correctly formed X chromosome. This mistake occurs after Fertilization, during cell division. The error in cell division results in the reproductive cells having an abnormal number of chromosomes (“Turner Syndrome”). Neither parent is responsible for the abnormal chromosome. It occurs randomly. There is no way to prevent a child from having Turner Syndrome. It is a genetic disorder. Although, prenatal testing can be done during pregnancy that can determine if the unborn child has Turner Syndrome (Fleming).
There are many symptom of Turner Syndrome, occurring both at birth and later in life. When a girl with Turner Syndrome is born, she most likely has swollen or puffy hands and feet with a webbed neck. Heart, blood vessel, and kidney defects are common (Matthews). Later, in the girl’s childhood, she will have a small stature that will become evident at age 5.
Turner Syndrome is caused by a chromosome abnormality. Normally, females will have two X chromosomes (XX) and males will have one X and one Y chromosome (XY) (Matthews). In Turner Syndrome, there is a defect in the X Chromosome. It is either a monosomy X, meaning, there is only one, single X chromosome or an Mosaicism, meaning the second chromosome is either incomplete or rearranged. Basically, there is only one correctly formed X chromosome. This mistake occurs after Fertilization, during cell division. The error in cell division results in the reproductive cells having an abnormal number of chromosomes (“Turner Syndrome”). Neither parent is responsible for the abnormal chromosome. It occurs randomly. There is no way to prevent a child from having Turner Syndrome. It is a genetic disorder. Although, prenatal testing can be done during pregnancy that can determine if the unborn child has Turner Syndrome (Fleming).
There are many symptom of Turner Syndrome, occurring both at birth and later in life. When a girl with Turner Syndrome is born, she most likely has swollen or puffy hands and feet with a webbed neck. Heart, blood vessel, and kidney defects are common (Matthews). Later, in the girl’s childhood, she will have a small stature that will become evident at age 5.