Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles Anver Kuliev, Jeanine Cieslak Janzen,

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Presentation transcript:

Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles Anver Kuliev, Jeanine Cieslak Janzen, Zev Zlatopolsky, Irina Kirillova, Yury Ilkevitch, Yury Verlinsky Reproductive BioMedicine Online Volume 21, Issue 1, Pages 93-99 (July 2010) DOI: 10.1016/j.rbmo.2010.04.003 Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Preimplantation diagnosis for maternally derived rearrangement 46,XX,ins(11;5)(q22.2;q31.1q34) by chemical conversion distinguishing normal from unbalanced embryos. Fluorescent in-situ hybridization (FISH) was performed for chromosome 11 using whole chromosome paint 11 (WCP 11) in green and the centromeric enumeration probe for chromosome 11 (CEP 11) in aqua. Chromosome 5 is identified by a dual probe which targets a region of the p arm LSI D5S23, D5S721 (5p15.2) in green and the q arm LSI EGR1 (5q31) in orange. Remaining chromosomes are seen in blue after the application of 4(6-diamidino-2-phenylindole) counterstain. (A) FISH image of a metaphase from a peripheral blood lymphocyte from the female carrier. Normal chromosome 11 is seen with WCP 11 in green and CEP 11 in aqua. Derivative 11 is identified by a combination of WCP 11 green, CEP 11 aqua and 5q31 in orange identifying the inserted segment of chromosome 5 into derivative 11. Normal chromosome 5 is identified by the presence of both 5p15.2 in green and 5q31 in orange. Derivative 5 is identified by 5p15.2 in green only since it lacks the 5q31 region which has been inserted into the q arm of chromosome 11. (B) FISH image of condensed chromosomes isolated from a blastomere from a normal 8-cell embryo showing two normal chromosomes 5 and 11. (C) FISH image of condensed chromosomes from an unbalanced 8-cell embryo, which shows two normal chromosomes 5 (top, left and right) and one normal chromosome 11 (lower right). (D) FISH image of condensed chromosomes in close proximity to one another indicating an unbalanced chromosome complement. Two normal chromosomes 5 (top) and one normal chromosome 11 (middle), and a derivative chromosome 11 (bottom) are present. Reproductive BioMedicine Online 2010 21, 93-99DOI: (10.1016/j.rbmo.2010.04.003) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions