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Hum. Reprod. Advance Access originally published online on August 6, 2004
Human Reproduction 2004 19(10):2231-2237; doi:10.1093/humrep/deh391
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Human Reproduction vol. 19 no. 10 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology

Laurie J. McKenzie1, Sandra A. Carson1, Susan Marcelli1, Erin Rooney1, Pauline Cisneros1, Sergy Torskey1, John Buster1, Joe Leigh Simpson1,2 and Farideh Z. Bischoff1,3

1 Departments of Obstetrics and Gynecology and 2 Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA

3 To whom correspondence should be addressed at: Baylor College of Medicine, Department of Obstetrics and Gynecology, 6550 Fannin Street, Suite 885, Houston, TX 77030, USA. Email: bischoff{at}bcm.tmc.edu

BACKGROUND: Spatial organization of chromosomes is hypothesized to reflect transcriptional activity and regulatory protein function. Preimplantation genetic diagnosis allows assessment of the spatial relationship of chromosomes in human blastomeres. We thus examined the localization of chromosomes 13, 16, 18, 21, 22, X and Y in blastomeres from 6–8-cell stage embryos, correlating localization to aneuploidy and embryo morphology. METHODS: Following fluorescence in situ hybridization to enumerate chromosomes 13, 16, 18, 21, 22, X and Y, signal positions were localized within one of four concentric shells. Statistical analysis compared chromosome localization between euploid and aneuploid blastomeres as well as morphologically normal and abnormal embryos. RESULTS: Of 98 embryos, 109 blastomeres were evaluated. Within chromosomally normal blastomeres, no difference in the location of all seven chromosomes (P≤0.10) was observed. However, a significant difference was observed between the organization of chromosomes in euploid versus aneuploid blastomeres (P≤0.001). Localization of chromosomes 13, 18, 21 and 22 was significantly different when an abnormality involving that chromosome existed (P≤0.001, P≤0.01, P≤0.025 and P≤0.01 respectively). CONCLUSIONS: We report for the first time that localization of chromosomes is altered in chromosomally aneuploid but not in chromosomally normal nor morphologically abnormal euploid blastomeres.

Key words: aneuploidy/chromosomal nuclear localization/preimplantation genetic diagnosis


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