Abstract

MARTIN CUESTA, Nelson H; PIMENTEL BENITEZ, Héctor I  and  CONDE RAMIREZ, Arturo. Gonosomopathies detected in the Cytogenetic laboratory of Camagüey. AMC [online]. 2010, vol.14, n.6, pp.1-11. ISSN 1025-0255.

Background: the cytogenetic study in lymphocytes of peripheral blood is a diagnostic medium very requested by different medical specialties, it is used thoroughly to diagnose different chromosomopathies which have a great interest those related with patient's sexual characteristics. Objective: to expose the results of seventeen years of work of the Cytogenetic Laboratory of Camagüey, on gonosomopathies of the diagnosed sexual chromosomes. Method: a descriptive analysis of data of the entrance and egress register of samples for cytogenetic studies of the Provincial laboratory of Camagüey was performed, between the years 1989 and 2006, the remitted cases were reviewed in this period with a presumptive diagnosis of gonosomopathy, which were processed and organized in tables by frequency distribution. Results: ninety-five cases that showed different disorders of sexual development were found, classified in the Klinefelter and Turner´s syndromes, androgenic insensibility, incomplete testicular feminization, tetraploidy of X chromosome, mixed gonadal digenesis and hermaphrodism. Conclusions: those that most affect population are the Turner and Klinefelter´s syndromes, which agree with what is reported in the literature.

Keywords : SEX CHROMOSOMES; CITOGENETIC ANALYSIS; TURNER SYNDROME; ADROGEN INSENSITIVITY SYNDROME.

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