Outcome of twin babies free of Von Hippel–Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive.

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Outcome of twin babies free of Von Hippel–Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening  Albert Obradors, M.Sc., Esther Fernández, Ph.D., Mariona Rius, M.Sc., Maria Oliver-Bonet, Ph.D., Maria Martínez-Fresno, M.Sc., Jordi Benet, Ph.D., Joaquima Navarro, Ph.D.  Fertility and Sterility  Volume 91, Issue 3, Pages 933.e1-933.e7 (March 2009) DOI: 10.1016/j.fertnstert.2008.11.013 Copyright © 2009 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Aneuploid profiles observed for chromosomes #2, #10, #12, #17, #19, and #X of first polar body #1. Fertility and Sterility 2009 91, 933.e1-933.e7DOI: (10.1016/j.fertnstert.2008.11.013) Copyright © 2009 American Society for Reproductive Medicine Terms and Conditions

Figure 2 The comparative genomic hybridization result for first polar body #8. Euploid profiles are observed from all analyzed chromosomes. The embryo that originated from it was transfered to the uterus, together with embryo #4, after being diagnosed as unaffected by VHL. Fertility and Sterility 2009 91, 933.e1-933.e7DOI: (10.1016/j.fertnstert.2008.11.013) Copyright © 2009 American Society for Reproductive Medicine Terms and Conditions

Figure 3 Electropherograms which resulted from the double-factor preimplantation genetic diagnosis of the biopsied embryos. (A) D3S1675 and D31537 short tandem repeat (STR) alleles from transfered embryo #8. (B) STR alleles from Von Hippel–Lindau syndrome (VHL)–affected embryo #6. (C) STRs from wild-type embryo #10, presenting allele dropout for allele 154 of D3S1675. (D) Minisequencing result for transfered embryo #8, showing a homozygote cytosine allele (black line). (E) Minisequencing result for VHL-affected embryo #6 with an allele for cytosine (black line) and the mutant one for thymine (red line). (F) Minisequencing result for VHL-affected embryo #10, presenting ADO for the wild-type allele (black line). Fertility and Sterility 2009 91, 933.e1-933.e7DOI: (10.1016/j.fertnstert.2008.11.013) Copyright © 2009 American Society for Reproductive Medicine Terms and Conditions