Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas

Abstract

Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results of the cytogenetic study in peripheral blood of patients with infertility and other fertility defects, diagnosed and genetically counseled in Las Tunas, from January 2014 to August 2016.Methods: an observational, descriptive and retrospective research of the cytogenetic studies performed in the peripheral blood to study infertility was carried out in the province and during the period herein mentioned. The following variables were assessed: positivity of the cytogenetic study, patient sex, chromosomal alteration according to sexual phenotype, and the manifestations of infertility or fertility defects as criteria for the indication of the study.Results: 86 patients were studied. 5 patients presented chromosomal alterations, with a prevalence of the male sex with 4 patients for 10,5 %. The numerical chromosomal aberrations predominated over the structural ones, presenting the Klinefelter syndrome. Chromosomal markers related to chromosome 9 and 16, respectively, were detected in two patients. The highest number of indications corresponded to the clinical criterion of infertility, with 47 patients for 54,6 %, being insufficient the number of patients studied with other criteria.Conclusions: the results of the peripheral blood cytogenetic study of the patients included in the research were described.

Keywords

• infertility
• chromosome aberrations
• chromosome disorders