The inherited Robertsonian 13q14q translocation and sex chromosome aneuploidies in the same family

Abstract

There is reported a large family with four healthy persons possessing Robertsonian t(13q14q) translocation. After karyotype investigation in 106 relatives, three additional individuals with sex chromosome aneuploidines were established: one carrier of translocation has a son with chromosomų mosaics 45,X/46,XY/47,XYY, and in a collateral branch of the family by the woman 45,X the karyotype of her grandmother was 46,XX/45,X. The possible genetic control of aneuploidy is discussed (the role of centromere, heterochromatin, centrosome, proteolytic enzymes). In some cases the factors predetermining aneuploidy show the Mendelian inheritance. However, the familial concentration of chromosome anomalies should be evaluated as multifactorially influenced. Keywords: Robertsonian translocation, sex chromosomes, familial aneuploidy