File:TurnerSyndromeXChromosomeFormations.jpg: Difference between revisions
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E. Is devoid of the homeobox gene, SHOX (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3 | E. 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 --[[User:Z3217345|z3217345]] 21:38, 19 September 2011 (EST). | |||
== References == | |||
P Saenger, K A Wikland, G S Conway, M Davenport, C H Gravholt, R Hintz, O Hovatta, M Hultcrantz, K Landin-Wilhelmsen, A Lin, B Lippe, A M Pasquino, M B Ranke, R Rosenfeld, M Silberbach, Fifth International Symposium on Turner Syndrome Recommendations for the diagnosis and management of Turner syndrome. J. Clin. Endocrinol. Metab.: 2001, 86(7);3061-9 PMID:11443168 | |||
Revision as of 21:38, 19 September 2011
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 of a short arm (p)
D. In a ring formation (rX)
E. 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
P Saenger, K A Wikland, G S Conway, M Davenport, C H Gravholt, R Hintz, O Hovatta, M Hultcrantz, K Landin-Wilhelmsen, A Lin, B Lippe, A M Pasquino, M B Ranke, R Rosenfeld, M Silberbach, Fifth International Symposium on Turner Syndrome Recommendations for the diagnosis and management of Turner syndrome. J. Clin. Endocrinol. Metab.: 2001, 86(7);3061-9 PMID:11443168
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