Chromosomal translocations prenatally diagnosed in the Cytogenetics Laboratory in Villa Clara Province
Keywords:
chromosomal aberrations, cytogenetic, human chromosomesAbstract
Introduction: Translocations are the most frequent chromosomal rearrangements.
Objective: To describe the reciprocal and by centromeric fusion translocations prenatally diagnosed, their origin and the kind of segregation in inherited cases.
Methods: A descriptive retrospective study was performed at Villa Clara province lab during a 1988-2020 period of time. 56 carriers of balanced translocations fetuses were included whose were diagnosed at the Cytogenetic laboratory.
Results: 56 fetuses with translocations were diagnosed, which the same proportion of cases with reciprocal and by centromeric fusion translocations. The 78,6% of reciprocal translocations were balanced with paternal origin, meanwhile in the centromeric fusion translocations the maternal origin was predominant (60.7%). The alternant segregation was observed in all cases with inherited centromeric fusion translocations and in the 77% of reciprocal translocations, in the remaining 23% adjacent 1 segregation was occurred.
Conclusions: Reciprocal translocations and by centromeric fusion has a similar frequency, with predominance of the maternal origin in the centromeric fusion translocations and paternal origin in the reciprocal translocations.
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15 junio 2025
