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Turner Syndrome - Research Paper Example

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Diagnosis of Turner syndrome Name Institution Turner syndrome is a chromosome abnormality condition named after Henry Turner, endocrinologist , where the females lack or abnormalities in the part or entire sex chromosome, scientifically called monosomy x (Tohem, Tsuang & Goodwin, 2006)…
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Turner Syndrome
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Turner Syndrome

Download file to see previous pages... The condition has various symptoms, some of which are physical while the rest are biological (American Psychiatric Association, 2004). Physical symptoms include swollen broad necks, webbed necks, and reduced hair line, hanging ears and swollen eyes among others. Biological symptoms are irregular or no menstrual cycle. The condition could further to certain complications like heart diseases, impaired vision and hearing, diabetes and thyroid complications among others. This discourse is about turner syndrome, explaining its causes, symptoms and diagnosis among other relevant subjects. Causes Turner syndrome arises from absence or abnormalities of the x chromosomes in part or whole of the cells. A normal girl should have two x chromosomes inherited from both the male and female parents (Bondy, 2009). However, one of the x chromosomes may be affected or missing in the sex cells rising to turner syndrome. Abnormalities of the x chromosomes could rise from mosaicism, a condition resulting from inappropriate cell division in the early days or stages of fetal developments (Bondy, 2009). This may cause variations in the cells composition, with some having two x chromosomes while others having only one X chromosome (Bondy, 2009). Furthermore, a cell may have both complete and faulty X chromosome. Monosomy is another factor causing the condition and here the victim lacks one of the X chromosomes, due to complications in the father’s sperms or mother’s eggs (Bondy, 2009). Turner syndrome could also result from Y chromosome material, a condition where a female have cells with one complete X chromosome while other cells have X chromosome and Y chromosome material (Morgan, 2007). Apart from turner chromosome, chromosomal errors could lead to ovarian complications, short body structures and gonadoblastoma among others (Bondy, 2009). Signs and syndrome Turner syndrome has various signs and symptoms and this include swollen limps (hands and feet), low or reduced hair line, broad chest, obesity, lack of menstrual period, smaller finger nails, webbed or broadened neck, visual and hearing impairments, smaller hips when compared with the waist, low memory and concentrations, majorly in children and adolescents, difficulties in learning developments, drooping eyelids , smaller or receding lower jaw, upward turned fingernails, delayed growth, sensitivity to noise, broader chest with wide spaced nipples, and social withdrawal among others (Fink & Taylor, 2008). However, it is important to note that different patients or victims exhibit different symptoms depending on their body systems (Fink & Taylor, 2008). The signs and symptoms may change as the patient develops, for instance, older girls and young women may experience poor sexual developments or even inability to conceive, lack of menstrual cycles, even in the absence of pregnancy, difficulty to get along with peers, difficulty in learning spatial and math concepts and abnormal height of even 20 centimeters (Fink & Taylor, 2008). Parents are greatly advised tom take keen monitor of their daughters at early development stages and should any of the signs be noted, prompt diagnosis and care should be initiated (Morgan, T. (2007). Exams and Tests Turner syndrome could be diagnosed through testing the patients’ amniotic fluid (amniocentesis) as a prenatal procedure. The procedure helps deal with the chromosomal abnormalities and the fetal infections ...Download file to see next pagesRead More
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