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A genetic condition in girls in which only one of two X chromosomes is present. In this condition, the individual is phenotypically female and is at risk for a range of difficulties. It is named after Henry Turner who described cases in the 1930s. Various forms of Turner’s syndrome have been identified. These can include a complete or a partial absence of one X chromosome. In some cases, only some cells are missing the chromosome (mosaic Turner’s syndrome). Diagnosis is sometimes made during the pregnancy (e.g., by amniocentesis or sometimes by ultrasound). A karyotype analysis confirms the diagnosis. Various forms of Turner’s syndrome have been identified. These can include a complete or a partial absence of the X chromosome.
Physical abnormalities include low-set ears, webbed neck, short stature, and other features. Medical problems include amenorrhea and sterility and heart as well as visual and hearing problems. A substantial minority of...
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Volkmar, F.R. (2020). Turner Syndrome. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_1843-3
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DOI: https://doi.org/10.1007/978-1-4614-6435-8_1843-3
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