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

• Published in: Human genetics Vol. 99; no. 6; pp. 806 - 815
• Main Authors: MADAN, K, NIEUWINT, A. W. M, VAN BEVER, Y
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.06.1997; Berlin; New York, NY
• Subjects: Abortion, Habitual - genetics; Adult; Biological and medical sciences; Chromosome aberrations; Chromosome Banding; Chromosomes, Human, Pair 2; Female; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Infertility, Male - genetics; Karyotyping; Male; Medical genetics; Medical sciences; Pedigree; Pregnancy; Recombination, Genetic; Translocation, Genetic; Chromosomal aberration; Human; Review; Case study; Abnormal chromosome C8; Mother; Abnormal chromosome A3; Abnormal chromosome A2; Cytogenetics; Abnormal chromosome; Genetics; Child; Chromosome translocation
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390050453

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.