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Turner Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1938, Turner (1938) reported a syndrome of sexual infantilism, short stature, webbed neck, cubitus valgus, and primary amenorrhea in seven female patients. Later in 1954, it was observed that the ovaries were usually replaced by streaks of stroma without follicles; hence, the name gonadal agenesis. Negative sex chromatin was discovered in 1954; only one X chromosome was demonstrated cytogenetically in these patients in 1959.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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Chen, H. (2016). Turner Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_238-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_238-2

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