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

Cristina Gutiérrez-Mateo, L. Gadea, J. Benet, D. Wells, S. Munné, Joaquima Navarro

    Research output: Contribution to journalArticleResearchpeer-review

    9 Citations (Scopus)

    Abstract

    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.
    Original languageEnglish
    Pages (from-to)1256-1260
    JournalHuman Reproduction
    Volume20
    DOIs
    Publication statusPublished - 1 Jan 2005

    Keywords

    • CGH
    • First polar body
    • Oocyte
    • SKY
    • Translocation

    Fingerprint Dive into the research topics of 'Aneuploidy 12 in a Robertsonian (13;14) carrier: Case report'. Together they form a unique fingerprint.

    Cite this