Abstract

CASTILLO ZALLES, Claudia et al. Manifestaciones clínicas más frecuentes en pacientes con sindrome de Turner del Instituto de Genética, La Paz - Bolivia periodo 1990 -2004. Cuad. - Hosp. Clín. [online]. 2006, vol.51, n.1, pp.27-32. ISSN 1562-6776.

Objective Identify the most frequents clinical Turner syndrome patients features. Design Cross section. Place Genetic Institute, La Paz, Bolivia. Participants 36 patients with Turner Syndrome. Methods Clinical features data were collected from Genetic Institute records. Patients with similar clinical features with out cariotyping diagnosis where not included. Results We find small stature 77.8%, gonads dysgenesis 61.1%, pterigium colli 27.8%, anomalous auricles 33.3%. Age of diagnosis was less than 5 years 11.1%, between to 10 to 14 years 44.4%. Cytogenetic analysis report monosomy in 72% , mosaics (28%). Conclusions The clinical features of Turner Syndrome are variable, the diagnosis it's most frequency during puberty, age where could it be late to prevent consequences. The phenotype of Turner Syndrome has been related to RPS4X and SOS genes.

Keywords : Turner Syndrome; cytogenetic analysis; features; gonads dysgenesis; small stature.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )