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In 1938 Dr Henry Turner an internist at the University of Oklahoma described what is now called Turners syndrome Turners syndrome is a relatively common genetic disorder found in females affecting many body systems Although this disorder was described in 1938 it was not until 1959 that the technology was available to determine the cause of this disorder Humans normally have a total of 46 chromosomes which are tiny DNA-containing elements that are present in every cell of the body DNA encodes genes which specify all the proteins that make up the body and control its functions There are 23 matched pairs of chromosomes in every cell Each cell contains 22 pairs of chromosomes called autosomes that are the same in males and females The remaining pair of chromosomes the X- and Y- chromosomes are not shaped similarly and thus are not matched in the same way as the autosomes The X- and Y- chromosomes are called sex chromosomes They are responsible for the difference in development between males and females A Y-chromosome contains genes responsible for testis development and the presence of an X-chromosome paired with a Y-chromosome will determine male development A female with normal genetic make-up has two X-chromosomes in each of her cells one which she received from her father and one which she received from her mother Two X- chromosomes are required for normal ovarian development in females The female with Turners syndrome has only one X- chromosome in each of her cells due to a nondisjunction event during meiosis of her parents gametes A careful examination of the genetic material usually by means of a blood sample can confirm the diagnosis of Turners Syndrome Depending on the degree of nondisjunction of her parents gametes the genotype of Turner Syndrome can vary The majority of patients with only
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