Encyclopedia of Clinical Neuropsychology

2018 Edition
| Editors: Jeffrey S. Kreutzer, John DeLuca, Bruce Caplan

Turner Syndrome

  • Elizabeth I. Pierpont
  • Daniel B. Berch
  • Michèle M. M. MazzoccoEmail author
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-57111-9_1601

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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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Elizabeth I. Pierpont
    • 1
  • Daniel B. Berch
    • 2
  • Michèle M. M. Mazzocco
    • 3
    Email author
  1. 1.Department of Pediatrics, Division of Clinical Behavioral NeuroscienceUniversity of MinnesotaMinneapolisUSA
  2. 2.Curry School of EducationUniversity of VirginiaCharlottesvilleUSA
  3. 3.Institute of Child DevelopmentUniversity of MinnesotaMinneapolisUSA