Turner's Syndrome

By Maggie Cristoforo

What is Turner's Syndrome?

A genetic defect in which affected women have only one X chromosome, (usually a woman has two X chromosomes) causing developmental abnormalities and infertility.

About Turner's Syndrome

How Does A Person Get This Syndrome? Is This A Mutation Or Genetically Inherited? What Does The Karyotype Look Like?

A person gets Turner's Syndrome when there is a nondisjunction. This happens when two sex chromosomes do not separate during the making of sperm or egg. When sperm with no X goes together with an egg to make an embryo, the embryo will only have one X chromosome inherited from the mother. The embryo then will grow and when the cells divide, every cell will be missing an X chromosome. Turner's Syndrome is not genetic, it is a mutation. The Karytope for this syndrome is 45X.
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Prevalence: How Many People Are Affected By This Syndrome? Is It Rare Or Common?

Every 1 in 2,500 female births worldwide have Turner's Syndrome. This syndrome is rare.

Who Discovered This Syndrome And When Was This Syndrome Discovered?

Doctor Henry Turner discovered this syndrome in 1938. He published a report describing the syndrome.

Other Facts About Turner's Syndrome

  • In 75-80% of cases, the single X chromosome comes from the mother's egg; the father's sperm that fertilizes the egg is missing its sex chromosome.
  • A female fetus (normally XX) that is missing one of its X chromosomes can survive, but a male fetus (normally XY) cannot. The X chromosome is a long DNA molecule with many genes that are needed for cells to function; it is essential for life. In contrast, the Y chromosome carries few genes and is not essential for life.
  • The average height of an untreated woman with Turner syndrome is 4 feet 8 inches.

Do I Think Genetic Testing Is A Useful And Important Science?

I do think genetic testing is a useful and important science. It helps people in many ways. The tests can tell someone what is wrong with them, and based on the test results, what a person can do to treat their syndrome. The testing can help people with pain and difficulties due to whatever is wrong with them. Overall, genetic testing helps make people's lives a little easier.