What is Turner Syndrome?

What is Turner Syndrome? Generally, a syndrome is a set of symptoms/features within a group of people that often occur together. In 1938, Dr. Hnery Turner published a report that he had recognized a group of girls with many of the same characteristics.  These included arms angled away from the body, short stature, webbing of the neck, lack of sexual development, and a low hairline at the base of the neck. This is why we now call this Turner Syndrome. Some refer to it in the medical term of gonadal dysgenesis because one of the main features is abnormal development of the ovaries. There are other causes for this abnormal development as well.

In 1959, Dr. C.E. Ford discovered that the cause of TS is a chromosomal condition involving the sex chromosomes. This genetic disorder only affects females. All females with TS are missing all or part of their X chromosome. This can happen before or soon after the time of conception. There is nothing that either parent does to make this happen, the age, ethnicity, diet, or any other factors are completely unrelated to “causing” Turner Syndrome. About 50% of the females with TS are missing an X chromosome in every cell, while about 30% have some cells that are complete and some which are missing the entire X chromosome, this is called mosaicism.

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