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
Symptoms and Characteristics
Girls and women with Turner's Syndrome often have a short stature They have non functioning ovaries and they have infertility. they often fave a webbed neck, swollen hands and feet, skeletal abnormalities, and different heart and blood pressure problems. Girls and women also have less-developed breasts, and do not hit puberty at the age they should.
Is Turner's Syndrome Fatal or Life Threatening?
Girls with this syndrome are sometimes born without full function or die when born. Often times mothers go through miscarriage with babies who have this syndrome. If born alive and well, girls should live a full life, unless the heart problems from the syndrome are bad enough. Although, most heart problems that come with the disease are easily treatable.
Do People Who Have This Syndrome Experience Symptoms Early In Life Or Later In Life?
Symptoms are shown throughout a girl's childhood. Sometimes symptoms can be shown at birth, for example a webbed neck, or swollen feet and hands. At about the age of five, Turner's Syndrome is evident due to a girl's short stature. Other times, Turner's Syndrome is not discovered in a girl until puberty. Girls with Turner's Syndrome do not start their menstrual cycles, so that is always a sign of the 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.
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.