Clinical experience with balanced reciprocal translocations

Abstract

Clinical experience with balanced reciprocal translocations: In order to evaluate past experience with respect to the occurrence of balanced reciprocal translocations (BRT) in patients with malformation syndromes and/or mental retardation (MS/MR) and in couples with reproductive failure, 4,335 karyotypes from the Genetics Unit of the Universidad del Zulia from January 1971 to December 1994 were reviewed, resulting in the identification of 15 cases of BRT (0.34%). All BRT were classic (CT) according to the number of breakpoints. In 66.6% of the cases, the indication for chromosome analysis was a MS/MR; 20% reproductive failure and, in 13.3% the BRT was a fortuitous finding. BRT were of familial origin in 6/15 (40%), 3/15 (20%) were de novo and the other 6/15 (40%) were of unknown origin. It was concluded that BRT can affect the phenotype, particularly when the request for the karyotype is motivated by MS/MR, and that genetic counseling in individuals at risk to be carrier is indicated.