Disorders of the Sex Chromosomes: Medical Overview

  • Judith Levine Ross


In 1938 Doctor Henry Turner described 7 patients with short stature, sexual infantilism, and a wide-carrying angle at the elbow (cubitus valgus) (Turner, 1938). The original pathologic diagnosis in Turner syndrome was noted to be gonadal dysgenesis, with fibrous streaks replacing normal ovarian tissue (Wilkens & Fleishmann, 1954). The missing X chromosome was discovered by Barr in 1959 (Ford et al., 1959). The most common features constituting the phenotype of females with Turner syndrome are short stature, sexual infantilism, and gonadal dysgenesis. A group of associated characteristic features have also been described and are detailed below.


Essential Tremor Turner Syndrome Ethinyl Estradiol Klinefelter Syndrome Gonadal Dysgenesis 
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© Springer-Verlag New York Inc. 1990

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  • Judith Levine Ross

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