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  • Title: Case report: chromatid exchange and predivision of chromatids as other sources of abnormal oocytes detected by preimplantation genetic diagnosis of translocations.
    Author: Munné S, Bahçe M, Schimmel T, Sadowy S, Cohen J.
    Journal: Prenat Diagn; 1998 Dec; 18(13):1450-8. PubMed ID: 9949445.
    Abstract:
    Preimplantation genetic diagnosis of translocations can be performed on first polar bodies (PB) at metaphase stage using FISH with whole-chromosome painting DNA probes. Here we report the use of this method in a couple in which the female was a carrier of a balanced translocation 46,XX,t(11;16)(q21;q22). This case unusual in that two polar bodies showed recombination events between the homologue chromosomes of 11 and 16 pairs, resulting in M-II oocytes with monovalent chromosomes having a normal and a derivative chromatid. For this type of case, PGD analysis on polar bodies cannot give a useful result, because, at the second meiotic division, either of these chromatids could remain in the oocyte, resulting in a normal, balanced or unbalanced embryo. PGD analysis on blastomeres can provide a solution. 11 previous cases of PGD of translocations performed by metaphase PB analysis are reviewed.
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