Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Turner Syndrome

  • Fred R. VolkmarEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_1843-3
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Synonyms

Definition

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...

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References and Reading

  1. 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
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  4. Skuse, D. H., James, R. S., Bishop, D. V., Coppin, B., Dalton, P., Aamodt-Leeper, G., et al. (1997). Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature, 387(6634), 705–708.CrossRefGoogle Scholar
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  6. Yorifuji, T., Muroi, J., Kawai, M., Uematsu, A., Sasaki, H., Momoi, T., et al. (1998). Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. Journal of Medical Genetics, 35(7), 539–544.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Child Study Center, Irving B. Harris Professor of Child Psychiatry, Pediatrics and PsychologyYale University School of MedicineNew HavenUSA