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Turner Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1938, Turner 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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© 2006 Humana Press Inc.

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(2006). Turner Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_190

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  • DOI: https://doi.org/10.1007/978-1-60327-161-5_190

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

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