Abstract

BLANCO PEREZ, Irenia; MITJANS TORRES, María del Carmen; MINOSO PEREZ, Sahily  and  SOCARRAS GOMEZ, Ada. Chromosomal disorders diagnosed in peripheral blood. Rev Ciencias Médicas [online]. 2013, vol.17, n.6, pp.130-139. ISSN 1561-3194.

Introduction: the cytogenetic study of peripheral blood lymphocytes is a diagnosis means much demanded by different medical specialists, and used widely to diagnose different chromosomal disorders of genetic origin. Objective: to describe main chromosomal disorders diagnosed in peripheral blood, in Pinar del Río Province, from January 2007 to December 2012. Material and method: a retrospective descriptive study was carried out of 831 patients referred to the Province Center of Medical Genetics. The sample consisted of 117 patients who turned out to be positive on showing chromosomal disorders found in their karyotypes. The referral reason, the number of completed diagnoses, and the types of disorders detected were analyzed. Results: in the period studied 68 cases were detected. The frequency order of chromosomal disorders was: structural aberrations (60.6%), numeral aberrations (34.1%), and mosaics (5.1%). The most frequent disorders were trisomies, translocations, and chromosomal polymorphism, especially of chromosome 9. Conclusions: the results of this study are similar to those reported in the consulted bibliography and confirm the high prevalence of chromosomal disorders in the population of Pinar del Río, where it is important to highlight the cytogenetic study of peripheral blood in people with antecedents of miscarriage, infertility, dysmorphias, chromosomal balanced reordering, among others, in view of establishing an accurate, timely diagnosis and to provide good genetic counselling.

Keywords : Karyotype; Cytogenetics; Chromosome aberrations.

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