File:Turner Syndrome X Chromosome Variations.jpg

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Turner Syndrome - X Chromosome Variations

Figure shows Turner syndrome variations of the second X chromosome.

  • Completely absent (45,X)
  • Partially absent
  • Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)
  • In a ring formation (rX)
  • Is devoid of the homeobox gene, SHOX (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3

Image drawn by --z3217345 21:38, 19 September 2011 (EST).

References

Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R & Silberbach M. (2001). Recommendations for the diagnosis and management of Turner syndrome. J. Clin. Endocrinol. Metab. , 86, 3061-9. PMID: 11443168 DOI.

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Cite this page: Hill, M.A. (2024, June 17) Embryology Turner Syndrome X Chromosome Variations.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Turner_Syndrome_X_Chromosome_Variations.jpg

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current16:24, 20 September 2011Thumbnail for version as of 16:24, 20 September 2011977 × 1,434 (130 KB)Z3217345 (talk | contribs)==Turner Syndrome - X Chromosome Variations== Figure shows Turner syndrome variations of the second X chromosome. A. Completely absent (45,X) B. Partially absent C. Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid

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