Guide To Common Genetic Conditions

Turner Syndrome

One genetic condition that is known for only affecting females is Turner syndrome. This disorder is a result of the absence or deformity of a chromosome within the female body. In this condition, the X chromosome, one of the chromosomes that determine gender, is formed only partially or is completely missing before birth. Turner syndrome is not normally an inherited disorder. While not all individuals with it will have symptoms, those who do typically have physical development abnormalities.

A webbed neck, which is an excess skin fold around the neck, is the most common physical symptom. Compared to normal individuals, the ears of Turner syndrome patients are often lower, and their height is shorter. Many other physical symptoms, including heart defects, are sometimes present. Ovarian failure is also common, which normally means that Turner syndrome patients are unable to have children. Although intellectual symptoms are rare, some individuals may have trouble with executive function tasks. This can affect a patient's ability to organize, self-manage, focus attention, and maintain motivation.

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