Detection of chromosomal translocations by cytogenetic diagnosis. Cienfuegos, 2006-2016

Abstract

Background: Chromosomal abnormalities frequently cause pregnancy losses and infertility, and they are an important cause of mental retardation. Early diagnosis allows extending the study to the families of these translocations carriers.Objective: to identify chromosomal translocations by cytogenetic diagnosis.Methods: a retrospective description was conducted of the studied cases between 2006 and 2016 of fetuses diagnosed with some translocation, which were grouped in 10 families (25 individuals). Data were taken from the CPGMC records, which contain the prenatal chromosomal diagnoses of population at risk, and postnatal studies in peripheral blood performed to parents and other fetuses relatives. The following variables were analyzed: diagnosis (sick, healthy carrier), type of chromosomal aberration (structural, numerical), heritability pathway of structural anomalies (father or mother), chromosome formula and type of translocation.Results: out of all positive cases and carriers diagnosed prenatally, 76.71% were numerical anomalies. From 17 cases of structural anomalies, 13 were chromosomal translocations, (balanced and unbalanced), all inherited from one of the progenitors. Two sick individuals and 23 healthy carriers in the studied families were identified by prenatal and postnatal diagnosis.Conclusion: in the Cienfuegos province, there is a healthy group of people who carry chromosomal translocations, which can be transmited to their descendants; therefore with the possibility that they are born with malformations.

Keywords

• aberraciones cromosómicas
• análisis citogenético
• translocación genética
• diagnóstico prenatal