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Turner syndrome is caused by the absence of all or part of the second sex chromosome. In our study on 100 female patients clinically diagnosed with Turner syndrome: 46 patients were 45, X 10 patients were mos 45, X/46, XX 2 patients were mos 45, X/47, XXX/46, XX 8 patients were mos 45, X/47, XXX 31 patients had a structurally abnormal X chromosome (mainly isochromosome, deletion p or q arm, ring X chromosome) and 2 patients had a structurally changed Y chromosome The phenotype is variable and includes short stature and gonadal dysgenesis. Mental retardation is not a feature of Turner syndrome. Conventional cytogenetical G-banding method and Fluorescence in situ hybridization technique were considered in cultured peripheral blood. Postnatal recognation of the syndrome requires genetic counselling of parents and supportive multidisciplinary treatment. |
