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Hum. Reprod. Advance Access originally published online on October 7, 2004
Human Reproduction 2004 19(12):2777-2783; doi:10.1093/humrep/deh539
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Human Reproduction vol. 19 no. 12 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Preimplantation genetic diagnosis for an insertional translocation carrier

C. Melotte1, S. Debrock2, T. D'Hooghe2, J.P. Fryns1 and J.R. Vermeesch1,3

1 Center for Human Genetics and 2 Leuven University Fertility Center, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium

3 To whom correspondence should be addressed. Email: joris.vermeesch{at}uz.kuleuven.ac.be

BACKGROUND: While preimplantation genetic diagnosis (PGD) is well established for carriers of reciprocal terminal translocations, reports on PGD for insertional translocation carriers are lacking. Here, we report on the PGD of an insertional translocation carrier with karyotype 46,XX,ins(14;2)(q21;q31q35). Due to the possibility of crossovers within the inserted region, rather than a single probe, four probes are required for proper embryo selection. METHODS: Probes were generated for PGD using fluorescence in situ hybridization and two PGD cycles. RESULTS: Analysis of 10 embryos revealed four embryos to be normal diploid. Two embryos were consistent with 3:1 segregation of the theoretical quadrivalent and one was consistent with 2:2 or 1:1 segregation. Furthermore, one embryo was mosaic abnormal and one remained without diagnosis. CONCLUSIONS: With increased acceptance of PGD, it is likely that more carriers of complex translocations will enter PGD programmes. The present results suggest that a careful genetic work-up of complex translocations is essential for proper embryo selection. While theoretical modelling may predict that quadrivalents will form during the meiosis of insertional translocations, experimental proof for the occurrence of quadrivalents is still lacking and more research on the meiotic process of both female and male insertional translocation carriers is warranted.

Key words: insertional translocation/meiosis/preimplantation genetic diagnosis (PGD)/quadrivalents/reciprocal translocation


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