Turner Syndrome Diagnosis

Health care providers use both physical symptoms and the results of a genetic blood test, called a karyotype, to determine the chromosomal characteristics of the cells in a female’s body. The test will show if one of the X chromosomes is partially or completely missing.



Turner syndrome also can be diagnosed during pregnancy by testing the cells. Newborns may be diagnosed after heart problems are detected or after certain physical features, such as swollen hands and feet or webbed skin on the neck, are noticed. Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.



Some girls may be diagnosed as teenagers because of a slow growth rate or a lack of puberty-related changes. Still others may be diagnosed as adults when they have difficulty becoming pregnant.



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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.