engleski

Cytogenetic analysis of turner syndrome

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.

Turner syndrome; Cytogenetic analysis

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