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Encyclopedia of Clinical Neuropsychology pp 3525–3530Cite as

Turner Syndrome

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Synonyms

Monosomy X (45,X); Ullrich-Turner syndrome

Definition

Turner syndrome (TS) is a genetic disorder appearing in females, caused by a complete or partial absence of one of the X chromosomes that manifests in variable phenotypic features including short stature, endocrine deficiency, cardiac and renal anomalies, and neurocognitive and behavioral challenges.

Categorization

Variants of TS are classified on the basis of results from cytogenetic testing, which can reveal sex chromosome abnormalities by means of a karyotype (Davenport et al. 2007). Approximately half of the females diagnosed with TS have a complete absence of one of the X chromosomes, termed monosomy X (45,X). Other structural variants found in individuals with TS include duplication (isochromosome) of the long arm of one X chromosome i(Xq), long-arm deletion (Xq-), small distal short-arm deletions (Xp-), and ring X. Mosaicism is frequently observed, where some cells are missing an X chromosome (45,X), while one or...

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References and Readings

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA

    Elizabeth I. Pierpont

  2. Curry School of Education, University of Virginia, Charlottesville, VA, USA

    Daniel B. Berch

  3. Institute of Child Development, University of Minnesota, Minneapolis, MN, USA

    Michèle M. M. Mazzocco

Authors
  1. Elizabeth I. Pierpont
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  2. Daniel B. Berch
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  3. Michèle M. M. Mazzocco
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Corresponding author

Correspondence to Michèle M. M. Mazzocco .

Editor information

Editors and Affiliations

  1. Department of Physical Medicine and Rehabilitation, Virginia Commonwealth University, Richmond, VA, USA

    Jeffrey S. Kreutzer

  2. Kessler Foundation, Pleasant Valley Way, West Orange, NJ, USA

    John DeLuca

  3. Independent Practice, Wynnewood, PA, USA

    Bruce Caplan

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Pierpont, E.I., Berch, D.B., Mazzocco, M.M.M. (2018). Turner Syndrome. In: Kreutzer, J.S., DeLuca, J., Caplan, B. (eds) Encyclopedia of Clinical Neuropsychology. Springer, Cham. https://doi.org/10.1007/978-3-319-57111-9_1601

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