Turner syndrome: Difference between revisions
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Turner Syndrome is a [[Monosomic|monosomic]] condition in which only one [[X chromosome|X chromosome]] is present (XO). A person with this syndrome will have no [[ | Turner Syndrome is a [[Monosomic|monosomic]] condition in which only one [[X chromosome|X chromosome]] is present (XO). A person with this syndrome will have no [[Barr bodies|barr bodies]] as they only have 1 X chromosome. Instead of having a set of 44 [[Autosomes|autosomes]] + 1 pair of sex [[Chromosome|chromosomes]] (either XX or XY), the person has only 44 [[Autosomes|autosomes]] + 1 X [[Chromosome|chromosomes]]. Turner syndrome ocurrs as a result of nondisjunction, which is when chromosomes do not separate successfully during meiosis. It happens in about 1 in 5000 female births. The affected females are of a characteristic [[Phenotype|phenotype]] e.g sterile, have a short height, low hairline, small finger nails, and poor breast development with the nipples spread a distance apart <ref>Anthony JF Griffiths et al., 1990, Modern Genetic Analysis, New York : W.H.Freeman, Chapter 8</ref>. Different karyotypes found in patients with Turner Syndrome will manifest themselves as different phenotypes of the disease<ref name="null">Al Alwan, Khadora M et.al. 2014. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis.(www.ncbi.nlm.nih.gov/pmc/articles/PMC4166992/) (22/10/2014)</ref>. | ||
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Revision as of 11:38, 23 October 2014
Turner Syndrome is a monosomic condition in which only one X chromosome is present (XO). A person with this syndrome will have no barr bodies as they only have 1 X chromosome. Instead of having a set of 44 autosomes + 1 pair of sex chromosomes (either XX or XY), the person has only 44 autosomes + 1 X chromosomes. Turner syndrome ocurrs as a result of nondisjunction, which is when chromosomes do not separate successfully during meiosis. It happens in about 1 in 5000 female births. The affected females are of a characteristic phenotype e.g sterile, have a short height, low hairline, small finger nails, and poor breast development with the nipples spread a distance apart [1]. Different karyotypes found in patients with Turner Syndrome will manifest themselves as different phenotypes of the disease[2].
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