Genetic Testing For Turners Syndrome

Genetic Testing For Turners Syndrome

Turner syndrome is a genetic disorder that affects one in every 2,000 female births. There is cure for the disorder and it is characterized by short stature, loose skin folds in the neck region and small jaw.

Girls suffering from this disorder do develop secondary sexual characters at puberty and have underdeveloped ovaries that lead to infertility later on. In addition, females suffering from Turner syndrome are more prone to heart, kidney and thyroid problems.

Usually the syndrome is discovered when the girl is small due to lack of growth, which leads the doctor to conduct a battery of tests. However, genetic testing for Turner's syndrome can be done before birth if the disorder is suspected. This genetic test involves analyzing the cells from the amniotic fluid or the placenta. Usually this is done if the doctor suspects Turner syndrome while conducting fetal ultrasound. Genetic testing for Turner's syndrome using the cells of the placenta or amniotic fluid is usually 99 percent accurate.

If the diagnosis is confirmed with the genetic testing, then the baby will be put under specialist care immediate after she is born.

Later on after the baby is born, the diagnosis is further confirmed only after a blood test is done. This blood test is known as karotype and it checks the number of chromosome of the female.

A girl suffering from Turner's syndrome will have 45 chromosomes instead 46 chromosomes. The usual chromosome composition is 44 autosomes and 2 X chromosomes. However, in girls suffering from Turner's syndrome, a part or all of one X chromosome is missing or misshapen. X chromosome is the sex chromosome.

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Genetic Testing For Turners Syndrome