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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...
References and Reading
- Donnelly, S. L., Wolpert, C. M., Menold, M. M., Bass, M. P., Gilbert, J. R., Cuccaro, M. L., Delong, G. R., & Pericak-Vance, M. A. (2000). Female with autistic disorder and monosomy X (Turner syndrome): Parent-of-origin effect of the X chromosome. American Journal of Medical Genetics, 96(3), 312–316.CrossRefGoogle Scholar
- Rourke, B. (Ed.). (1994). Syndrome of nonverbal learning disabilities: Manifestations in neurological disease disorder and dysfunction. New York: Guilford Press.Google Scholar