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.
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.
Madan
K
K
Department of Clinical Genetics, Polikliniek Gebouw, Academisch Ziekenhuis Vrije Universiteit, Amsterdam, The Netherlands.
Nieuwint
A W
AW
van Bever
Y
Y
D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011995:Recombination, Genetic; D014178:Translocation, Genetic