Abstract

PIMENTEL BENITEZ, Héctor I et al. Fertility disorders and associated chromosomal aberrations. AMC [online]. 2011, vol.15, n.5, pp. 791-801. ISSN 1025-0255.

Background: nowadays, in spite of the development of molecular diagnostic tools, the karyotype in peripheral blood is the first line of study to detect chromosomal abnormalities in the unfertile couple. Objective: to describe the results of postnatal cytogenetic diagnoses performed on patients with fertility disorders when the presence of a chromosomopathy is suspected to be the cause. Method: a retrospective and descriptive research was performed from the results of chromosomal studies in peripheral blood and the indications of those studies. The studied universe included two hundred and eighty-seven patients referred to the Cytogenetics Laboratory of the Provincial Center of Medical Genetics, from 1987 to 2009. The obtained data were processed, analyzed and displayed in charts and tables of frequencies’ distribution. Results: ninety-one chromosomopathies are described, mainly in female subjects (phenotypically and chromosomally). Turner´s syndrome and its variants were the most represented. The reproductive disorders and the confirmation or exclusion of genetic syndromes were the most frequent indication of a cytogenetic study. Conclusions: chromosomal diagnosis constitutes an important tool for the detection of chromosomal anomalies involved in fertility disorders.

Keywords : SEX CHROMOSOME DISORDERS [diagnosis]; INFERTILITY, FAMALE; EPIDEMIOLOGY, DESCRIPTIVE; CITOGENETIC ANALISYS.

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