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Human Reproduction, Vol. 18, No. 10, 2058-2066, October 2003
© 2003 European Society of Human Reproduction and Embryology

A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure

J. Lespinasse1,5, M.O. North2, C. Paravy1, M.J. Brunel1, P. Malzac3 and J.L. Blouin4

1 Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, 2 Cytogenetic Laboratory, Cochin-Saint Vincent de Paul Hospital, Paris, 3 Department of Medical Genetics, Hopital d’Enfants de la Timone, Marseille, France and 4 Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland

5 To whom correspondence should be addressed at: e-mail: james.lespinasse{at}ch-chambery.rss.fr

Balanced complex chromosomal rearrangements are very rare events in the human population. Translocations involving three or more chromosomes frequently lead to a severe reproductive impairment secondary to meiotic disturbance in males and to chromosomal imbalance in gametes of females. We report a new familial case of complex chromosome anomaly involving chromosomes 13, 14 and 22. Cytogenetic investigations showed a complex chromosomal chromosome rearrangement involving: (i) a Robertsonian translocation between chromosomes 13 and 14; and (ii) a reciprocal translocation between the long arms of chromosome 14 and the long arm of chromosome 22. The aetiology of the translocation was characterized by conventional fluorescence in-situ hybridization (FISH) studies and routine R- and G-banding (RTBG and GBTG) combined with {alpha} and {beta} satellite centromeric FISH probes. Predicted configuration of the hexavalent at pachytene stage of meiosis was used to consider the modes of segregation; only two configurations resulted in a normal or balanced gamete karyotype. Reproductive management and genetic counselling are discussed.

Key words: chromosomes 13, 14 and 22/familial balanced complex chromosomal rearrangement/genetic counselling/infertility/meiosis


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R. Coco, M.I. Rahn, P. G. Estanga, G. Antonioli, and A.J. Solari
A constitutional complex chromosome rearrangement involving meiotic arrest in an azoospermic male: Case report
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