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2014, Number 1

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Rev Cub Gen 2014; 8 (1)

Clinical-genetic relation in a sample of patients with Turner syndrome

Vega CV, Lantigua CA, Viñas PC, Barrios MA, González GN, del Monte SE

Language: Spanish
References: 25
Page: 41-46
PDF size: 356.18 Kb.


ABSTRACT

The Turner syndrome is a disorder caused by the total or partial absence of a second sex chromosome in females. This paper has as its main objective to describe the age-phenotype relation according to the indication of cases corresponding to Turner syndrome, analyzing the frequencies of the different karyotypes found in the Turner syndrome and establishing the phenotypic-karyotypic sex relation in cases of 45, X / 46, XY mosaicism. Taking into account the karyotype of 4 387 patients, carried out in the Cytogenetics Laboratory of the National Center of Medical Genetics Laboratory, those cases presenting Turner syndrome and 45,X/ 46, XY mosaicism were selected and analyzed. Karyotype 45, X predominated in mosaicisms, the 45, X/ 46, XX being the most frequent one. All cases with X chromosome ring were mosaic and the cases with 45, X/46, XY mosaicism can present different sex phenotypes. It was evidenced that low stature is an important sign to diagnose the syndrome, so it is relevant to carry on its early detection in order to supply the right treatment in the adequate stage.


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