
pmid: 9187678
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.
Adult, Male, Recombination, Genetic, Abortion, Habitual, Infant, Newborn, Translocation, Genetic, Chromosome Banding, Pedigree, Pregnancy, Chromosomes, Human, Pair 2, Karyotyping, Humans, Female, In Situ Hybridization, Fluorescence, Infertility, Male
Adult, Male, Recombination, Genetic, Abortion, Habitual, Infant, Newborn, Translocation, Genetic, Chromosome Banding, Pedigree, Pregnancy, Chromosomes, Human, Pair 2, Karyotyping, Humans, Female, In Situ Hybridization, Fluorescence, Infertility, Male
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