File:Turner Syndrome X Chromosome Variations.jpg

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, April 24) 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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