Symptoms of Turner SydromeAs previously discussed Turner Syndrome in What is Turner Syndrome Turner Syndrome is the absence of a whole X (sex) chromosome. This unique absence of an X chromosome therefore results in various physical features that differ greatly from the average standard human who has not obtained the defect. Turner Syndrome had several implications on the physical and mental aspect of the Human body and mind. The physical characteristics of Turner syndrome are widely varied and often visible to the naked eye, these can include;
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Figure 1.2 (above) [3] Is the visual comparison of a Normal Leg to a Leg with Lymphedema. The diagram reveals the swelling and inflammation that are the physical traits that are associated with Lymphedema.
Lymphedema is caused by a blockage in the Lymphedema system which plays a fundamental role in the immune and circulatory system. This blockage ultimately prevents fluid from draining resulting in swelling in the limbs. [4]
The three images above all show physical symptoms of Turner Syndrome. The first is a young child that has visible low-set ears, and a wider neck. The second image shows what a "shield chest" looks like. The third image is of short fingers, which is a common trait of Turner Syndrome.
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Turner girls are delightful, huggable, loving, brilliant, performers, doctors, nurses, attorneys; they are people who accomplish everything in the world.
- Dr Henry Anhalt
What causes these Characteristics?
With 800 new cases of Turner Syndrome being detected each year in the U.S [8] , it has still not been discovered which specific genes on the X chromosome are associated with all the characteristics of Turner syndrome.
In saying that, one gene has been identified called SHOX or formally known as short stature homeobox. This gene exists on both X and Y sex chromosomes and is located in the pseudoautosomal region, refer to Figure 1.4. This gene plays a critically important role in bone development and growth. When one copy of this gene is absent, skeletal abnormalities occur. In the context of Turner Syndrome the skeletal structure will be reduced to the short stature that is a fundamental characteristic for the defect [9]. |
Reference List
[1] http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Turner's_syndrome[2] http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/symptoms/con-20032572[2] http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/symptoms/con-20032572
[2] http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/symptoms/con-20032572
[3] Cptadmin, Comprehensive Physical Therapy, What is Lymphedema?, 2012. Accessed on: 26th July, Available at:
http://www.comprehensivephysicaltherapy.com/what-is-lymphedema/
[4] Cptadmin, Comprehensive Physical Therapy, What is Lymphedema?, 2012. Accessed on: 26th July, Available at: http://www.comprehensivephysicaltherapy.com/what-is-lymphedema/
[5] National Institute of Health. (2013). What is Turner syndrome?.Available: http://www.genome.gov/19519119. Last accessed 12th August 2014
[6] Patient.co.uk. ([Unknown Publish Date]). Understanding genes.Available: http://www.patient.co.uk/health/turner's-syndrome-leaflet. Last accessed 13th August 2014
[7] Joanne F Rovert, Journal of Learning Disabilities, The Psychoeducational characteristics of Children with Turner Syndrome. 1993 vol 5, pg 333-341. Accessed on 13rd July 2014, Available at: [http://www.ncbi.nlm.nih.gov/pubmed/8492052].
[8] University of Utah, Health Sciences. (2014). Turner Syndrome.Available: http://learn.genetics.utah.edu/content/disorders/chromosomal/turner/. Last accessed 10th August 2014
[9] Unknown. (2012). Turner Syndrome. Available: http://ghr.nlm.nih.gov/condition/turner-syndrome. Last accessed 8th August 2014.
[2] http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/symptoms/con-20032572
[3] Cptadmin, Comprehensive Physical Therapy, What is Lymphedema?, 2012. Accessed on: 26th July, Available at:
http://www.comprehensivephysicaltherapy.com/what-is-lymphedema/
[4] Cptadmin, Comprehensive Physical Therapy, What is Lymphedema?, 2012. Accessed on: 26th July, Available at: http://www.comprehensivephysicaltherapy.com/what-is-lymphedema/
[5] National Institute of Health. (2013). What is Turner syndrome?.Available: http://www.genome.gov/19519119. Last accessed 12th August 2014
[6] Patient.co.uk. ([Unknown Publish Date]). Understanding genes.Available: http://www.patient.co.uk/health/turner's-syndrome-leaflet. Last accessed 13th August 2014
[7] Joanne F Rovert, Journal of Learning Disabilities, The Psychoeducational characteristics of Children with Turner Syndrome. 1993 vol 5, pg 333-341. Accessed on 13rd July 2014, Available at: [http://www.ncbi.nlm.nih.gov/pubmed/8492052].
[8] University of Utah, Health Sciences. (2014). Turner Syndrome.Available: http://learn.genetics.utah.edu/content/disorders/chromosomal/turner/. Last accessed 10th August 2014
[9] Unknown. (2012). Turner Syndrome. Available: http://ghr.nlm.nih.gov/condition/turner-syndrome. Last accessed 8th August 2014.