Journal of assisted reproduction and genetics · 2003
Higher degree of chromosome mosaicism in preimplantation embryos from carriers of robertsonian translocation t(13;14) in comparison with embryos from karyotypically normal IVF patients.
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Emiliani Serena, Gonzalez-Merino Eric, Van den Bergh Marc, Abramowicz Marc, Englert Yvon
Аннотация
PURPOSE: To compare the frequency and the degree of mosaicism in human embryos from Robertsonian translocation (RT) t(13;14) carriers, with embryos from karyotypically normal IVF patients
METHODS: FISH analysis of embryos from PGD cycles for RT t(13;14), with probes for chromosomes 13, 14, and 18 (Group I) and of embryos from karyotypically normal IVF patients with probes for chromosomes 13, 18, 21, X, and Y (Group II).
RESULTS: The incidence of abnormal mosaic embryos was significantly higher in group I (38/51) as compared with group II (6/45) (chi2: P < 0.01). Furthermore, in group I the percentage of diploid cells per embryo was lower for chromosome 13 and 14 in comparison with 18, while in group II no differences were observed between the five chromosomes analyzed.
CONCLUSIONS: RT induces a high frequency of mosaicism specifically for the chromosomes implicated in the translocation; the analysis by FISH of two blastomeres is strongly recommended for these patients
METHODS: FISH analysis of embryos from PGD cycles for RT t(13;14), with probes for chromosomes 13, 14, and 18 (Group I) and of embryos from karyotypically normal IVF patients with probes for chromosomes 13, 18, 21, X, and Y (Group II).
RESULTS: The incidence of abnormal mosaic embryos was significantly higher in group I (38/51) as compared with group II (6/45) (chi2: P < 0.01). Furthermore, in group I the percentage of diploid cells per embryo was lower for chromosome 13 and 14 in comparison with 18, while in group II no differences were observed between the five chromosomes analyzed.
CONCLUSIONS: RT induces a high frequency of mosaicism specifically for the chromosomes implicated in the translocation; the analysis by FISH of two blastomeres is strongly recommended for these patients
Предметные рубрики MeSH
AdultBlastocystChromosome AberrationsChromosomes, Human, Pair 13Chromosomes, Human, Pair 14Chromosomes, Human, Pair 18Chromosomes, Human, Pair 21Chromosomes, Human, XChromosomes, Human, YFemaleFertilization in VitroHumansIn Situ Hybridization, FluorescenceMaleMosaicismPregnancyPreimplantation DiagnosisTranslocation, Genetic