Turner syndrome is a typical example of a chromosome abnormality caused by the mutation of the chromosomal DNA complex. It is caused by the missing of one sex chromosome in the body. It is presented when the sexual gene orientation of a lady’s chromosome are not complete and lack some genes (Rosenfeld et al. 23).
It is caused during the sexual intercourse when a pair of chromosomes fails to separate hence leading to the formation of an embryo with only one X-chromosome. In the embryo formation during copulation, both the parents give out X-chromosomes leading to XX-chromosomes but when the sperm lacking the other X-chromosome pairs with another hence the nondisjunction. In the normal states, this type of a chromosome abnormality is not genetic since a number of women with the malfunction are not able to produce due to their sterile nature (Rosenfeld et al. 30).
The syndrome is always associated with stunted growth and inability to sexually produce. Most of the ladies with the disorder are shorter than the normal size; this is caused by the lack of a special gene in the missing X-chromosome responsible for the development of long bones. The sexual disorder is due to the lack of the special genes that are responsible for the determination of fertility in most of the women. Other related symptoms include the possession of stocky body like the hands that tends to turn out at the elbow tip and small possession of hairline at the back of the neck area. Most of the ladies suffering from the situation also experience abnormal ovulation by having earlier puberties than the appropriate time. A number of the patients with the disorder also tends to suffer from high blood pressure and the defects in other organs like the lungs and kidneys (Rosenfeld et al. 41).
Most of the doctors and other physicians are able to diagnose syndrome by analyzing the characteristics or symptoms within a frame of few months. Their blood sample can also be tested through diagnosis even during pregnancy of the child. After diagnosis, it can be treated through a therapy process of gene replacement.
The disorder is highly common among women in the United States. It was named after Dr. Henry Turner who wrote an article describing the disorder. It is also noted that female fetus that lacks one pair of an X-chromosome can survive, unlike the male fetus (Rosenfeld et al. 55).
Works Cited
Rosenfeld, Ron G, and Melvin M. Grumbach.Turner Syndrome. New York: M. Dekker, 1990. Print.
