Abstract
Turner Syndrome (TS) is one of the most common human chromosome anomalies. It occurs in approximately 1:2000 female live births (1) regardless of ethnic background. Girls with TS have an abnormal or missing X chromosome that causes short stature and may cause lymphedema, cardiac abnormalities, gonadal dysgenesis, dysmorphic features and other problems (2,3). Approximately 50–60% of girls with TS are reported to have a 45,X karyotype. These girls tend to have the severest phenotype and are frequently diagnosed as newborns (4,5). Twenty to thirty percent ave structural abnormalities of the X chromosome such as rings, isochromosomes of the long arm, and partial deletions of the short arm. Thirty to forty percent have mosaic patterns (karyotypes having two or more distinct cell types) involving the X chromosome such as 45,X/46,XX, 45,X/46,X,i(X) and 45,X/46,XY. This is thought to result from chromosome loss after fertilization (6).
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Davenport, M.L., Rosenfeld, R.G. (2003). Turner Syndrome. In: Radovick, S., MacGillivray, M.H. (eds) Pediatric Endocrinology. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-336-1_7
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