Abstract
We report an unusual case of a balanced reciprocal translocation with a recombinant chromosome which has arisen from a familial balanced complex translocation. Fluorescence in situ hybridization studies were essential for the identification of the breakpoints. A review of 60 cases of balanced complex translocations (BCT) has revealed three cases similar to ours. Carriers of BCT have a high risk of having spontaneous abortions or a child with an unbalanced karyotype. Certain types of balanced rearrangements involving an insertion can give rise to a simpler balanced translocation as a result of crossover. Our observations support the assumption that the chance that a de novo balanced complex translocation is associated with an abnormal phenotype increases with the number of breakpoints.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 27 March 1996 / Revised: 28 January 1997
Rights and permissions
About this article
Cite this article
Madan, K., Nieuwint, A. & van Bever, Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet 99, 806–815 (1997). https://doi.org/10.1007/s004390050453
Issue Date:
DOI: https://doi.org/10.1007/s004390050453