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, May 21) 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
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
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Date/Time | Thumbnail | Dimensions | User | Comment | |
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current | 16:24, 20 September 2011 | 977 × 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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