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Hum. Reprod. Advance Access originally published online on February 3, 2005
Human Reproduction 2005 20(5):1256-1260; doi:10.1093/humrep/deh751
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Published by Oxford University Press 2005 on behalf of the European Society of Human Reproduction and Embryology

Aneuploidy 12 in a Robertsonian (13;14) carrier: Case report

C. Gutiérrez-Mateo1,4, L. Gadea2, J. Benet1, D. Wells3, S. Munné2,3 and J. Navarro1

1 Departament de Biologia Cel·lular, Fisiologia i Immunologia, Unitat de Biologia i Genètica Mèdica, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Spain, 2 Reprogenetics, 101 Old Short Hills Road, Suite 501, West Orange, NJ 07052, 3 Institute for Reproductive Medicine and Science, St Barnabas Medical Center, 94 Old Short Hills Road, Livingston, NJ 07039, USA

4 To whom correspondence should be addressed. Email: cristina.gutierrez{at}uab.es; Email: joaquima.navarro{at}uab.es

In translocation carriers, the presence of aneuploidy for the chromosomes unrelated to the rearrangement may lead to an additional risk of abnormal pregnancy or implantation failure. Consequently, it may be important to analyse not only the chromosomes involved in the rearrangement but also the rest of chromosomes. We combined spectral karyotyping (SKY) and comparative genomic hybridization (CGH) to karyotype one unfertilized oocyte and its first polar body (1PB) from a Robertsonian translocation carrier t(13;14) aged 29 years who was undergoing IVF and preimplantation genetic diagnosis (PGD) for translocations and aneuploidy screening. Two out of four embryos were aneuploid, as a result of an adjacent segregation. The unfertilized oocyte had a normal/ balanced constitution of the chromosomes involved in the reorganization. However, this 1PB–metaphase II doublet was aneuploid for chromosome 12, the oocyte being hyperhaploid (24, X, +12) and its 1PB hypohaploid (22, X, –12). The application of CGH for the study of Robertsonian translocations of maternal origin will be useful to study imbalances of the chromosomes involved in the rearrangement, as well as alterations in the copy number of any other chromosome. The combination of PGD for translocations with aneuploidy screening could help to reduce the replacement of chromosomally abnormal embryos.

Key words: CGH/first polar body/oocyte/SKY/translocation


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C. Gutierrez-Mateo, J. Benet, H. Starke, M. Oliver-Bonet, S. Munne, T. Liehr, and J. Navarro
Karyotyping of human oocytes by cenM-FISH, a new 24-colour centromere-specific technique
Hum. Reprod., December 1, 2005; 20(12): 3395 - 3401.
[Abstract] [Full Text] [PDF]


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