Essay on Turner Syndrome

Submitted By dangleesacks
Words: 594
Pages: 3

Turner Syndrome, discovered by Henry H. Turner, is a chromosomal deficiency that mainly affects females. Those affected by Turner Syndrome usually only have 45 chromosomes versus the normal 46. The most common symptoms are short stature and lack of sexual development as well as infertility.

The chromosomal makeup of a human being is what characterizes who they really are. Hair color, eye color, height, shoe size, and many other characteristics are predetermined the moment the sperm and the egg meet. A normal human being is composed of 46 chromosomes divided into 23 pairs. Henry Turner noticed some abnormalities in humans with only 45 chromosomes or a damaged pair. This later became known as Turner Syndrome.
Henry H. Turner, born in 1892, was a consulting endocrinologist in Oklahoma City. His work in the hospital led to many fascinating discoveries. In 1938, Turner was observing several patients when he noticed similar physical features within all of them. He realized that these seven patients had some type of chromosomal abnormalities that would not be fully determined until 1960. While patients were coming to Turner for diagnosis of what they believed to be dwarfism and lack of sexual development, but Turner called it something else. All the patients were females who were short in stature and had some type of sexual development or infertility problems. It has been discovered that Turner Syndrome, referred to as TS, results in either a missing, broken, or an extra X chromosome.
Patients of Turner Syndrome do not all have the same abnormality of their chromosomes. In fact, there are three different types of patterns that can be obtained. One is the complete absence of an X chromosome. Sixty percent of TS patients have this diagnosis which is referred to as the 45 X pattern. (Medscape, 2004.) Another abnormality is called the partial X deletion. This occurs when one arm of the X chromosome may be missing or damaged. The last pattern is the chromosomal mosaicism. This is when certain cells with have a normal chromosomal makeup, but some will be deficient.
The earliest patients of Turner Syndrome simply believed they had dwarfism or did not fully develop sexually. After the discovery of TS, more research was conducted to find the causes of these problems. A gene in all patients of Turner Syndrome is called the SHOX (Short Stature Homeobox)